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class="vector-dropdown-content"> <div id="p-personal" class="vector-menu mw-portlet mw-portlet-personal user-links-collapsible-item" title="用户菜单" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="pt-sitesupport" class="user-links-collapsible-item mw-list-item"><a href="https://donate.wikimedia.org/?utm_source=donate&utm_medium=sidebar&utm_campaign=spontaneous&uselang=zh-hans"><span>资助维基百科</span></a></li><li id="pt-createaccount" class="user-links-collapsible-item mw-list-item"><a href="/w/index.php?title=Special:%E5%88%9B%E5%BB%BA%E8%B4%A6%E6%88%B7&returnto=%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84" title="我们推荐您创建账号并登录，但这不是强制性的"><span class="vector-icon mw-ui-icon-userAdd mw-ui-icon-wikimedia-userAdd"></span> <span>创建账号</span></a></li><li id="pt-login" class="user-links-collapsible-item mw-list-item"><a href="/w/index.php?title=Special:%E7%94%A8%E6%88%B7%E7%99%BB%E5%BD%95&returnto=%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84" title="建议你登录，尽管并非必须。[o]" accesskey="o"><span class="vector-icon mw-ui-icon-logIn mw-ui-icon-wikimedia-logIn"></span> <span>登录</span></a></li> </ul> </div> </div> <div id="p-user-menu-anon-editor" class="vector-menu mw-portlet mw-portlet-user-menu-anon-editor" > <div class="vector-menu-heading"> 未登录编辑者的页面 <a href="/wiki/Help:%E6%96%B0%E6%89%8B%E5%85%A5%E9%97%A8" aria-label="了解有关编辑的更多信息"><span>了解详情</span></a> </div> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="pt-anoncontribs" class="mw-list-item"><a href="/wiki/Special:%E6%88%91%E7%9A%84%E8%B4%A1%E7%8C%AE" title="来自此IP地址的编辑列表[y]" accesskey="y"><span>贡献</span></a></li><li id="pt-anontalk" class="mw-list-item"><a href="/wiki/Special:%E6%88%91%E7%9A%84%E8%AE%A8%E8%AE%BA%E9%A1%B5" title="对于来自此IP地址编辑的讨论[n]" accesskey="n"><span>讨论</span></a></li> </ul> </div> </div> </div> </div> </nav> </div> </header> </div> <div class="mw-page-container"> <div class="mw-page-container-inner"> <div class="vector-sitenotice-container"> <div id="siteNotice"></div> </div> <div class="vector-column-start"> <div class="vector-main-menu-container"> <div id="mw-navigation"> <nav id="mw-panel" class="vector-main-menu-landmark" aria-label="站点"> <div id="vector-main-menu-pinned-container" class="vector-pinned-container"> </div> </nav> </div> </div> <div class="vector-sticky-pinned-container"> <nav id="mw-panel-toc" aria-label="目录" data-event-name="ui.sidebar-toc" class="mw-table-of-contents-container vector-toc-landmark"> <div id="vector-toc-pinned-container" class="vector-pinned-container"> <div id="vector-toc" class="vector-toc vector-pinnable-element"> <div class="vector-pinnable-header vector-toc-pinnable-header vector-pinnable-header-pinned" data-feature-name="toc-pinned" data-pinnable-element-id="vector-toc" > <h2 class="vector-pinnable-header-label">目录</h2> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-pin-button" data-event-name="pinnable-header.vector-toc.pin">移至侧栏</button> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-unpin-button" data-event-name="pinnable-header.vector-toc.unpin">隐藏</button> </div> <ul class="vector-toc-contents" id="mw-panel-toc-list"> <li id="toc-mw-content-text" class="vector-toc-list-item vector-toc-level-1"> <a href="#" class="vector-toc-link"> <div class="vector-toc-text">序言</div> </a> </li> <li id="toc-組成" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#組成"> <div class="vector-toc-text"> <span class="vector-toc-numb">1</span> <span>組成</span> </div> </a> <button aria-controls="toc-組成-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>开关組成子章节</span> </button> <ul id="toc-組成-sublist" class="vector-toc-list"> <li id="toc-染色體" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#染色體"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.1</span> <span>染色體</span> </div> </a> <ul id="toc-染色體-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-基因" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#基因"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.2</span> <span>基因</span> </div> </a> <ul id="toc-基因-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-調控序列" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#調控序列"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.3</span> <span>調控序列</span> </div> </a> <ul id="toc-調控序列-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-其他DNA" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#其他DNA"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.4</span> <span>其他DNA</span> </div> </a> <ul id="toc-其他DNA-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-變異" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#變異"> <div class="vector-toc-text"> <span class="vector-toc-numb">2</span> <span>變異</span> </div> </a> <ul id="toc-變異-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-遺傳疾病" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#遺傳疾病"> <div class="vector-toc-text"> <span class="vector-toc-numb">3</span> <span>遺傳疾病</span> </div> </a> <ul id="toc-遺傳疾病-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-演化" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#演化"> <div class="vector-toc-text"> <span class="vector-toc-numb">4</span> <span>演化</span> </div> </a> <ul id="toc-演化-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-粒線體基因組" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#粒線體基因組"> <div class="vector-toc-text"> <span class="vector-toc-numb">5</span> <span>粒線體基因組</span> </div> </a> <ul id="toc-粒線體基因組-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-研究" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#研究"> <div class="vector-toc-text"> <span class="vector-toc-numb">6</span> <span>研究</span> </div> </a> <button aria-controls="toc-研究-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>开关研究子章节</span> </button> <ul id="toc-研究-sublist" class="vector-toc-list"> <li id="toc-人類基因組計畫" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#人類基因組計畫"> <div class="vector-toc-text"> <span class="vector-toc-numb">6.1</span> <span>人類基因組計畫</span> </div> </a> <ul id="toc-人類基因組計畫-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-專利問題" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#專利問題"> <div class="vector-toc-text"> <span class="vector-toc-numb">6.2</span> <span>專利問題</span> </div> </a> <ul id="toc-專利問題-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-圖譜" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#圖譜"> <div class="vector-toc-text"> <span class="vector-toc-numb">6.3</span> <span>圖譜</span> </div> </a> <ul id="toc-圖譜-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-參考文獻" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#參考文獻"> <div class="vector-toc-text"> <span class="vector-toc-numb">7</span> <span>參考文獻</span> </div> </a> <button aria-controls="toc-參考文獻-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>开关參考文獻子章节</span> </button> <ul id="toc-參考文獻-sublist" class="vector-toc-list"> <li id="toc-引用" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#引用"> <div class="vector-toc-text"> <span class="vector-toc-numb">7.1</span> <span>引用</span> </div> </a> <ul id="toc-引用-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-来源" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#来源"> <div class="vector-toc-text"> <span class="vector-toc-numb">7.2</span> <span>来源</span> </div> </a> <ul id="toc-来源-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-外部連結" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#外部連結"> <div class="vector-toc-text"> <span class="vector-toc-numb">8</span> <span>外部連結</span> </div> </a> <ul id="toc-外部連結-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-參見" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#參見"> <div class="vector-toc-text"> <span class="vector-toc-numb">9</span> <span>參見</span> </div> </a> <ul id="toc-參見-sublist" class="vector-toc-list"> </ul> </li> </ul> </div> </div> </nav> </div> </div> <div class="mw-content-container"> <main id="content" class="mw-body"> <header class="mw-body-header vector-page-titlebar"> <nav aria-label="目录" class="vector-toc-landmark"> <div id="vector-page-titlebar-toc" class="vector-dropdown vector-page-titlebar-toc vector-button-flush-left" > <input type="checkbox" id="vector-page-titlebar-toc-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-page-titlebar-toc" class="vector-dropdown-checkbox " aria-label="开关目录" > <label id="vector-page-titlebar-toc-label" for="vector-page-titlebar-toc-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only " aria-hidden="true" ><span class="vector-icon mw-ui-icon-listBullet mw-ui-icon-wikimedia-listBullet"></span> <span class="vector-dropdown-label-text">开关目录</span> </label> <div class="vector-dropdown-content"> <div id="vector-page-titlebar-toc-unpinned-container" class="vector-unpinned-container"> </div> </div> </div> </nav> <h1 id="firstHeading" class="firstHeading mw-first-heading"><span class="mw-page-title-main">人類基因組</span></h1> <div id="p-lang-btn" class="vector-dropdown mw-portlet mw-portlet-lang" > <input type="checkbox" id="p-lang-btn-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-p-lang-btn" class="vector-dropdown-checkbox mw-interlanguage-selector" aria-label="前往另一种语言写成的文章。49种语言可用" > <label id="p-lang-btn-label" for="p-lang-btn-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--action-progressive mw-portlet-lang-heading-49" aria-hidden="true" ><span class="vector-icon mw-ui-icon-language-progressive mw-ui-icon-wikimedia-language-progressive"></span> <span class="vector-dropdown-label-text">49种语言</span> </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-ar mw-list-item"><a href="https://ar.wikipedia.org/wiki/%D8%AC%D9%8A%D9%86%D9%88%D9%85_%D8%A8%D8%B4%D8%B1%D9%8A" title="جينوم بشري – 阿拉伯语" lang="ar" hreflang="ar" data-title="جينوم بشري" data-language-autonym="العربية" data-language-local-name="阿拉伯语" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-ast mw-list-item"><a href="https://ast.wikipedia.org/wiki/Xenoma_humanu" title="Xenoma humanu – 阿斯图里亚斯语" lang="ast" hreflang="ast" data-title="Xenoma humanu" data-language-autonym="Asturianu" data-language-local-name="阿斯图里亚斯语" class="interlanguage-link-target"><span>Asturianu</span></a></li><li class="interlanguage-link interwiki-az mw-list-item"><a href="https://az.wikipedia.org/wiki/%C4%B0nsan_xromosomlar%C4%B1" title="İnsan xromosomları – 阿塞拜疆语" lang="az" hreflang="az" data-title="İnsan xromosomları" data-language-autonym="Azərbaycanca" data-language-local-name="阿塞拜疆语" class="interlanguage-link-target"><span>Azərbaycanca</span></a></li><li class="interlanguage-link interwiki-bg mw-list-item"><a href="https://bg.wikipedia.org/wiki/%D0%A7%D0%BE%D0%B2%D0%B5%D1%88%D0%BA%D0%B8_%D0%B3%D0%B5%D0%BD%D0%BE%D0%BC" title="Човешки геном – 保加利亚语" lang="bg" hreflang="bg" data-title="Човешки геном" data-language-autonym="Български" data-language-local-name="保加利亚语" class="interlanguage-link-target"><span>Български</span></a></li><li class="interlanguage-link interwiki-bn mw-list-item"><a href="https://bn.wikipedia.org/wiki/%E0%A6%AE%E0%A6%BE%E0%A6%A8%E0%A6%AC_%E0%A6%AC%E0%A6%82%E0%A6%B6%E0%A6%BE%E0%A6%A3%E0%A7%81%E0%A6%B8%E0%A6%AE%E0%A6%97%E0%A7%8D%E0%A6%B0" title="মানব বংশাণুসমগ্র – 孟加拉语" lang="bn" hreflang="bn" data-title="মানব বংশাণুসমগ্র" data-language-autonym="বাংলা" data-language-local-name="孟加拉语" class="interlanguage-link-target"><span>বাংলা</span></a></li><li class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/Ljudski_genom" title="Ljudski genom – 波斯尼亚语" lang="bs" hreflang="bs" data-title="Ljudski genom" data-language-autonym="Bosanski" data-language-local-name="波斯尼亚语" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-ca mw-list-item"><a href="https://ca.wikipedia.org/wiki/Genoma_hum%C3%A0" title="Genoma humà – 加泰罗尼亚语" lang="ca" hreflang="ca" data-title="Genoma humà" data-language-autonym="Català" data-language-local-name="加泰罗尼亚语" class="interlanguage-link-target"><span>Català</span></a></li><li class="interlanguage-link interwiki-cs mw-list-item"><a href="https://cs.wikipedia.org/wiki/Lidsk%C3%BD_genom" title="Lidský genom – 捷克语" lang="cs" hreflang="cs" data-title="Lidský genom" data-language-autonym="Čeština" data-language-local-name="捷克语" class="interlanguage-link-target"><span>Čeština</span></a></li><li class="interlanguage-link interwiki-cv mw-list-item"><a href="https://cv.wikipedia.org/wiki/%C3%87%D1%8B%D0%BD_%D0%B3%D0%B5%D0%BD%D0%BE%D0%BC%C4%95" title="Çын геномĕ – 楚瓦什语" lang="cv" hreflang="cv" data-title="Çын геномĕ" data-language-autonym="Чӑвашла" data-language-local-name="楚瓦什语" class="interlanguage-link-target"><span>Чӑвашла</span></a></li><li class="interlanguage-link interwiki-cy mw-list-item"><a href="https://cy.wikipedia.org/wiki/Y_genom_dynol" title="Y genom dynol – 威尔士语" lang="cy" hreflang="cy" data-title="Y genom dynol" data-language-autonym="Cymraeg" data-language-local-name="威尔士语" class="interlanguage-link-target"><span>Cymraeg</span></a></li><li class="interlanguage-link interwiki-diq mw-list-item"><a href="https://diq.wikipedia.org/wiki/C%C3%AAnom%C3%AA_merdumi" title="Cênomê merdumi – Zazaki" lang="diq" hreflang="diq" data-title="Cênomê merdumi" data-language-autonym="Zazaki" data-language-local-name="Zazaki" class="interlanguage-link-target"><span>Zazaki</span></a></li><li class="interlanguage-link interwiki-el mw-list-item"><a href="https://el.wikipedia.org/wiki/%CE%91%CE%BD%CE%B8%CF%81%CF%8E%CF%80%CE%B9%CE%BD%CE%BF_%CE%B3%CE%BF%CE%BD%CE%B9%CE%B4%CE%AF%CF%89%CE%BC%CE%B1" title="Ανθρώπινο γονιδίωμα – 希腊语" lang="el" hreflang="el" data-title="Ανθρώπινο γονιδίωμα" data-language-autonym="Ελληνικά" data-language-local-name="希腊语" class="interlanguage-link-target"><span>Ελληνικά</span></a></li><li class="interlanguage-link interwiki-en mw-list-item"><a href="https://en.wikipedia.org/wiki/Human_genome" title="Human genome – 英语" lang="en" hreflang="en" data-title="Human genome" data-language-autonym="English" data-language-local-name="英语" class="interlanguage-link-target"><span>English</span></a></li><li class="interlanguage-link interwiki-es badge-Q17437796 badge-featuredarticle mw-list-item" title="典范条目"><a href="https://es.wikipedia.org/wiki/Genoma_humano" title="Genoma humano – 西班牙语" lang="es" hreflang="es" data-title="Genoma humano" data-language-autonym="Español" data-language-local-name="西班牙语" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-et mw-list-item"><a href="https://et.wikipedia.org/wiki/Inimese_genoom" title="Inimese genoom – 爱沙尼亚语" lang="et" hreflang="et" data-title="Inimese genoom" data-language-autonym="Eesti" data-language-local-name="爱沙尼亚语" class="interlanguage-link-target"><span>Eesti</span></a></li><li class="interlanguage-link interwiki-eu mw-list-item"><a href="https://eu.wikipedia.org/wiki/Giza_genoma" title="Giza genoma – 巴斯克语" lang="eu" hreflang="eu" data-title="Giza genoma" data-language-autonym="Euskara" data-language-local-name="巴斯克语" class="interlanguage-link-target"><span>Euskara</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%DA%98%D9%86%D9%88%D9%85_%D8%A7%D9%86%D8%B3%D8%A7%D9%86" title="ژنوم انسان – 波斯语" lang="fa" hreflang="fa" data-title="ژنوم انسان" data-language-autonym="فارسی" data-language-local-name="波斯语" class="interlanguage-link-target"><span>فارسی</span></a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/Ihmisen_perim%C3%A4" title="Ihmisen perimä – 芬兰语" lang="fi" hreflang="fi" data-title="Ihmisen perimä" data-language-autonym="Suomi" data-language-local-name="芬兰语" class="interlanguage-link-target"><span>Suomi</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/G%C3%A9nome_humain" title="Génome humain – 法语" lang="fr" hreflang="fr" data-title="Génome humain" data-language-autonym="Français" data-language-local-name="法语" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-ga mw-list-item"><a href="https://ga.wikipedia.org/wiki/G%C3%A9an%C3%B3m_daonna" title="Géanóm daonna – 爱尔兰语" lang="ga" hreflang="ga" data-title="Géanóm daonna" data-language-autonym="Gaeilge" data-language-local-name="爱尔兰语" class="interlanguage-link-target"><span>Gaeilge</span></a></li><li class="interlanguage-link interwiki-gl mw-list-item"><a href="https://gl.wikipedia.org/wiki/Xenoma_humano" title="Xenoma humano – 加利西亚语" lang="gl" hreflang="gl" data-title="Xenoma humano" data-language-autonym="Galego" data-language-local-name="加利西亚语" class="interlanguage-link-target"><span>Galego</span></a></li><li class="interlanguage-link interwiki-he mw-list-item"><a href="https://he.wikipedia.org/wiki/%D7%92%D7%A0%D7%95%D7%9D_%D7%94%D7%90%D7%93%D7%9D" title="גנום האדם – 希伯来语" lang="he" hreflang="he" data-title="גנום האדם" data-language-autonym="עברית" data-language-local-name="希伯来语" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-hr mw-list-item"><a href="https://hr.wikipedia.org/wiki/Ljudski_genom" title="Ljudski genom – 克罗地亚语" lang="hr" hreflang="hr" data-title="Ljudski genom" data-language-autonym="Hrvatski" data-language-local-name="克罗地亚语" class="interlanguage-link-target"><span>Hrvatski</span></a></li><li class="interlanguage-link interwiki-ht mw-list-item"><a href="https://ht.wikipedia.org/wiki/Jen%C3%B2m_imen" title="Jenòm imen – 海地克里奥尔语" lang="ht" hreflang="ht" data-title="Jenòm imen" data-language-autonym="Kreyòl ayisyen" data-language-local-name="海地克里奥尔语" class="interlanguage-link-target"><span>Kreyòl ayisyen</span></a></li><li class="interlanguage-link interwiki-hu mw-list-item"><a href="https://hu.wikipedia.org/wiki/Hum%C3%A1n_genom" title="Humán genom – 匈牙利语" lang="hu" hreflang="hu" data-title="Humán genom" data-language-autonym="Magyar" data-language-local-name="匈牙利语" class="interlanguage-link-target"><span>Magyar</span></a></li><li class="interlanguage-link interwiki-id mw-list-item"><a href="https://id.wikipedia.org/wiki/Genom_manusia" title="Genom manusia – 印度尼西亚语" lang="id" hreflang="id" data-title="Genom manusia" data-language-autonym="Bahasa Indonesia" data-language-local-name="印度尼西亚语" class="interlanguage-link-target"><span>Bahasa Indonesia</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Genoma_umano" title="Genoma umano – 意大利语" lang="it" hreflang="it" data-title="Genoma umano" data-language-autonym="Italiano" data-language-local-name="意大利语" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/%E3%83%92%E3%83%88%E3%82%B2%E3%83%8E%E3%83%A0" title="ヒトゲノム – 日语" lang="ja" hreflang="ja" data-title="ヒトゲノム" data-language-autonym="日本語" data-language-local-name="日语" class="interlanguage-link-target"><span>日本語</span></a></li><li class="interlanguage-link interwiki-ko mw-list-item"><a href="https://ko.wikipedia.org/wiki/%EC%9D%B8%EA%B0%84_%EC%9C%A0%EC%A0%84%EC%B2%B4" title="인간 유전체 – 韩语" lang="ko" hreflang="ko" data-title="인간 유전체" data-language-autonym="한국어" data-language-local-name="韩语" class="interlanguage-link-target"><span>한국어</span></a></li><li class="interlanguage-link interwiki-mk mw-list-item"><a href="https://mk.wikipedia.org/wiki/%D0%A7%D0%BE%D0%B2%D0%B5%D1%87%D0%BA%D0%B8_%D0%B3%D0%B5%D0%BD%D0%BE%D0%BC" title="Човечки геном – 马其顿语" lang="mk" hreflang="mk" data-title="Човечки геном" data-language-autonym="Македонски" data-language-local-name="马其顿语" class="interlanguage-link-target"><span>Македонски</span></a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Menselijke_chromosomen" title="Menselijke chromosomen – 荷兰语" lang="nl" hreflang="nl" data-title="Menselijke chromosomen" data-language-autonym="Nederlands" data-language-local-name="荷兰语" class="interlanguage-link-target"><span>Nederlands</span></a></li><li class="interlanguage-link interwiki-nn mw-list-item"><a href="https://nn.wikipedia.org/wiki/Menneskegenomet" title="Menneskegenomet – 挪威尼诺斯克语" lang="nn" hreflang="nn" data-title="Menneskegenomet" data-language-autonym="Norsk nynorsk" data-language-local-name="挪威尼诺斯克语" class="interlanguage-link-target"><span>Norsk nynorsk</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Genom_cz%C5%82owieka" title="Genom człowieka – 波兰语" lang="pl" hreflang="pl" data-title="Genom człowieka" data-language-autonym="Polski" data-language-local-name="波兰语" class="interlanguage-link-target"><span>Polski</span></a></li><li class="interlanguage-link interwiki-ps mw-list-item"><a href="https://ps.wikipedia.org/wiki/%D8%A7%D9%86%D8%B3%D8%A7%D9%86%D9%8A_%D8%AC%D9%8A%D9%86%D9%88%D9%85" title="انساني جينوم – 普什图语" lang="ps" hreflang="ps" data-title="انساني جينوم" data-language-autonym="پښتو" data-language-local-name="普什图语" class="interlanguage-link-target"><span>پښتو</span></a></li><li class="interlanguage-link interwiki-pt mw-list-item"><a href="https://pt.wikipedia.org/wiki/Genoma_humano" title="Genoma humano – 葡萄牙语" lang="pt" hreflang="pt" data-title="Genoma humano" data-language-autonym="Português" data-language-local-name="葡萄牙语" class="interlanguage-link-target"><span>Português</span></a></li><li class="interlanguage-link interwiki-ro mw-list-item"><a href="https://ro.wikipedia.org/wiki/Genomul_uman" title="Genomul uman – 罗马尼亚语" lang="ro" hreflang="ro" data-title="Genomul uman" data-language-autonym="Română" data-language-local-name="罗马尼亚语" class="interlanguage-link-target"><span>Română</span></a></li><li class="interlanguage-link interwiki-ru mw-list-item"><a href="https://ru.wikipedia.org/wiki/%D0%93%D0%B5%D0%BD%D0%BE%D0%BC_%D1%87%D0%B5%D0%BB%D0%BE%D0%B2%D0%B5%D0%BA%D0%B0" title="Геном человека – 俄语" lang="ru" hreflang="ru" data-title="Геном человека" data-language-autonym="Русский" data-language-local-name="俄语" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-sd mw-list-item"><a href="https://sd.wikipedia.org/wiki/%D8%A7%D9%86%D8%B3%D8%A7%D9%86%D9%8A_%D8%AC%D9%8A%D9%86%D9%88%D9%85" title="انساني جينوم – 信德语" lang="sd" hreflang="sd" data-title="انساني جينوم" data-language-autonym="سنڌي" data-language-local-name="信德语" class="interlanguage-link-target"><span>سنڌي</span></a></li><li class="interlanguage-link interwiki-sh mw-list-item"><a href="https://sh.wikipedia.org/wiki/Ljudski_genom" title="Ljudski genom – 塞尔维亚-克罗地亚语" lang="sh" hreflang="sh" data-title="Ljudski genom" data-language-autonym="Srpskohrvatski / српскохрватски" data-language-local-name="塞尔维亚-克罗地亚语" class="interlanguage-link-target"><span>Srpskohrvatski / српскохрватски</span></a></li><li class="interlanguage-link interwiki-simple mw-list-item"><a href="https://simple.wikipedia.org/wiki/Human_genome" title="Human genome – Simple English" lang="en-simple" hreflang="en-simple" data-title="Human genome" data-language-autonym="Simple English" data-language-local-name="Simple English" class="interlanguage-link-target"><span>Simple English</span></a></li><li class="interlanguage-link interwiki-sr mw-list-item"><a href="https://sr.wikipedia.org/wiki/%D0%A5%D1%83%D0%BC%D0%B0%D0%BD%D0%B8_%D0%B3%D0%B5%D0%BD%D0%BE%D0%BC" title="Хумани геном – 塞尔维亚语" lang="sr" hreflang="sr" data-title="Хумани геном" data-language-autonym="Српски / srpski" data-language-local-name="塞尔维亚语" class="interlanguage-link-target"><span>Српски / srpski</span></a></li><li class="interlanguage-link interwiki-su mw-list-item"><a href="https://su.wikipedia.org/wiki/G%C3%A9nom_manusa" title="Génom manusa – 巽他语" lang="su" hreflang="su" data-title="Génom manusa" data-language-autonym="Sunda" data-language-local-name="巽他语" class="interlanguage-link-target"><span>Sunda</span></a></li><li class="interlanguage-link interwiki-sv mw-list-item"><a href="https://sv.wikipedia.org/wiki/M%C3%A4nniskans_genom" title="Människans genom – 瑞典语" lang="sv" hreflang="sv" data-title="Människans genom" data-language-autonym="Svenska" data-language-local-name="瑞典语" class="interlanguage-link-target"><span>Svenska</span></a></li><li class="interlanguage-link interwiki-ta mw-list-item"><a href="https://ta.wikipedia.org/wiki/%E0%AE%AE%E0%AE%A9%E0%AE%BF%E0%AE%A4_%E0%AE%AE%E0%AE%B0%E0%AE%AA%E0%AE%A3%E0%AF%81%E0%AE%A4%E0%AF%8D%E0%AE%A4%E0%AF%8A%E0%AE%95%E0%AF%88" title="மனித மரபணுத்தொகை – 泰米尔语" lang="ta" hreflang="ta" data-title="மனித மரபணுத்தொகை" data-language-autonym="தமிழ்" data-language-local-name="泰米尔语" class="interlanguage-link-target"><span>தமிழ்</span></a></li><li class="interlanguage-link interwiki-th mw-list-item"><a href="https://th.wikipedia.org/wiki/%E0%B8%88%E0%B8%B5%E0%B9%82%E0%B8%99%E0%B8%A1%E0%B8%A1%E0%B8%99%E0%B8%B8%E0%B8%A9%E0%B8%A2%E0%B9%8C" title="จีโนมมนุษย์ – 泰语" lang="th" hreflang="th" data-title="จีโนมมนุษย์" data-language-autonym="ไทย" data-language-local-name="泰语" class="interlanguage-link-target"><span>ไทย</span></a></li><li class="interlanguage-link interwiki-tl mw-list-item"><a href="https://tl.wikipedia.org/wiki/Genome_ng_tao" title="Genome ng tao – 他加禄语" lang="tl" hreflang="tl" data-title="Genome ng tao" data-language-autonym="Tagalog" data-language-local-name="他加禄语" class="interlanguage-link-target"><span>Tagalog</span></a></li><li class="interlanguage-link interwiki-tr mw-list-item"><a href="https://tr.wikipedia.org/wiki/%C4%B0nsan_genomu" title="İnsan genomu – 土耳其语" lang="tr" hreflang="tr" data-title="İnsan genomu" data-language-autonym="Türkçe" data-language-local-name="土耳其语" class="interlanguage-link-target"><span>Türkçe</span></a></li><li class="interlanguage-link interwiki-uk mw-list-item"><a href="https://uk.wikipedia.org/wiki/%D0%93%D0%B5%D0%BD%D0%BE%D0%BC_%D0%BB%D1%8E%D0%B4%D0%B8%D0%BD%D0%B8" title="Геном людини – 乌克兰语" lang="uk" hreflang="uk" data-title="Геном людини" data-language-autonym="Українська" data-language-local-name="乌克兰语" class="interlanguage-link-target"><span>Українська</span></a></li><li class="interlanguage-link interwiki-vi mw-list-item"><a href="https://vi.wikipedia.org/wiki/B%E1%BB%99_gen_ng%C6%B0%E1%BB%9Di" title="Bộ gen người – 越南语" lang="vi" hreflang="vi" data-title="Bộ gen người" data-language-autonym="Tiếng Việt" data-language-local-name="越南语" class="interlanguage-link-target"><span>Tiếng Việt</span></a></li> </ul> <div class="after-portlet after-portlet-lang"><span class="wb-langlinks-edit wb-langlinks-link"><a href="https://www.wikidata.org/wiki/Special:EntityPage/Q720988#sitelinks-wikipedia" title="编辑跨语言链接" class="wbc-editpage">编辑链接</a></span></div> </div> </div> </div> </header> <div class="vector-page-toolbar"> 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.ambox-move{border-left-color:#9932cc!important}html.skin-theme-clientpref-night .mw-parser-output .ambox-protection{border-left-color:#a2a9b1!important}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .ambox{border-left-color:#36c!important}html.skin-theme-clientpref-os .mw-parser-output .ambox-speedy,html.skin-theme-clientpref-os .mw-parser-output .ambox-delete{border-left-color:#b32424!important}html.skin-theme-clientpref-os .mw-parser-output .ambox-speedy{background-color:#300!important}html.skin-theme-clientpref-os .mw-parser-output .ambox-content{border-left-color:#f28500!important}html.skin-theme-clientpref-os .mw-parser-output .ambox-style{border-left-color:#fc3!important}html.skin-theme-clientpref-os .mw-parser-output .ambox-move{border-left-color:#9932cc!important}html.skin-theme-clientpref-os .mw-parser-output .ambox-protection{border-left-color:#a2a9b1!important}}</style><table class="box-Refimprove plainlinks metadata ambox ambox-content" role="presentation"><tbody><tr><td class="mbox-image"><div style="width:52px"><span typeof="mw:File"><a href="/wiki/File:Tango-nosources.svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Tango-nosources.svg/45px-Tango-nosources.svg.png" decoding="async" width="45" height="45" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Tango-nosources.svg/68px-Tango-nosources.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Tango-nosources.svg/90px-Tango-nosources.svg.png 2x" data-file-width="48" data-file-height="48" /></a></span></div></td><td class="mbox-text"><div class="mbox-text-span">此條目<b>需要补充更多<a href="/wiki/Wikipedia:%E5%88%97%E6%98%8E%E6%9D%A5%E6%BA%90" title="Wikipedia:列明来源">来源</a></b>。<span class="hide-when-compact"></span> <small class="date-container"><i>(<span class="date">2015年2月28日</span>)</i></small><span class="hide-when-compact"><br /><small>请协助補充多方面<a href="/wiki/Wikipedia:%E5%8F%AF%E9%9D%A0%E6%9D%A5%E6%BA%90" title="Wikipedia:可靠来源">可靠来源</a>以<a class="external text" href="https://zh.wikipedia.org/w/index.php?title=%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit">改善这篇条目</a>，<a href="/wiki/Wikipedia:%E5%8F%AF%E4%BE%9B%E6%9F%A5%E8%AF%81" class="mw-redirect" title="Wikipedia:可供查证">无法查证</a>的内容可能會因為<a href="/wiki/Template:Fact" class="mw-redirect" title="Template:Fact">异议提出</a>而被移除。<br />致使用者：请搜索一下条目的标题（来源搜索：<span class="plainlinks"><a rel="nofollow" class="external text" href="//www.google.com/search?&as_eq=wikipedia&q=%22%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84%22">"人類基因組"</a> — <a rel="nofollow" class="external text" href="//www.google.com/search?q=%22%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84%22">网页</a>、<a rel="nofollow" class="external text" href="//www.google.com/search?tbm=nws&q=&as_src=-newswire+-wire+-presswire+-PR+-press+-release+-wikipedia&q=%22%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84%22">新闻</a>、<a rel="nofollow" class="external text" href="//books.google.com/books?&as_brr=0&as_pub=-icon&q=%22%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84%22">书籍</a>、<a rel="nofollow" class="external text" href="//scholar.google.com/scholar?&q=%22%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84%22">学术</a>、<a rel="nofollow" class="external text" href="//www.google.com/search?tbm=isch&safe=off&q=%22%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84%22">图像</a></span>），以检查网络上是否存在该主题的更多可靠来源（<a href="/wiki/Wikipedia:%E5%8F%AF%E9%9D%A0%E6%9D%A5%E6%BA%90" title="Wikipedia:可靠来源">判定指引</a>）。</small></span><span class="hide-when-compact"></span></div></td></tr></tbody></table> <figure class="mw-halign-right" typeof="mw:File/Thumb"><a href="/wiki/File:Human_karyotype_with_bands_and_sub-bands.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/b/b1/Human_karyotype_with_bands_and_sub-bands.png/300px-Human_karyotype_with_bands_and_sub-bands.png" decoding="async" width="300" height="496" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/b/b1/Human_karyotype_with_bands_and_sub-bands.png/450px-Human_karyotype_with_bands_and_sub-bands.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/b/b1/Human_karyotype_with_bands_and_sub-bands.png/600px-Human_karyotype_with_bands_and_sub-bands.png 2x" data-file-width="9684" data-file-height="16008" /></a><figcaption>根據一般人類體細胞所擁有的染色體而繪製的「<a href="/wiki/%E6%9F%93%E8%89%B2%E4%BD%93%E7%BB%84%E5%9E%8B%E5%9B%BE" class="mw-redirect" title="染色体组型图">染色體組型圖</a>」。</figcaption></figure> <p><b>人類基因組</b>（human genome）又称<b>人類基因體</b>，是一套完整的人类核酸序列，其被编码成“细胞核中23对染色体内的DNA”及“个别线粒体内的一条小DNA分子”；通常被分成<b>核基因组</b>和<b>线粒体基因组</b>两类探讨。人类基因组含有約30億個<a href="/wiki/DNA" class="mw-redirect" title="DNA">DNA</a><a href="/wiki/%E9%B9%BC%E5%9F%BA%E5%B0%8D" class="mw-redirect" title="鹼基對">鹼基對</a>，鹼基對是以<a href="/wiki/%E6%B0%AB%E9%8D%B5" class="mw-redirect" title="氫鍵">氫鍵</a>相結合的兩個<a href="/wiki/%E5%90%AB%E6%B0%AE%E9%B9%BC%E5%9F%BA" class="mw-redirect" title="含氮鹼基">含氮鹼基</a>，以<a href="/wiki/%E8%83%B8%E8%85%BA%E5%98%A7%E5%95%B6" title="胸腺嘧啶">胸腺嘧啶</a>（T）、<a href="/wiki/%E8%85%BA%E5%98%8C%E5%91%A4" title="腺嘌呤">腺嘌呤</a>（A）、<a href="/wiki/%E8%83%9E%E5%98%A7%E5%95%B6" title="胞嘧啶">胞嘧啶</a>（C）和<a href="/wiki/%E9%B3%A5%E5%98%8C%E5%91%A4" title="鳥嘌呤">鳥嘌呤</a>（G）四種鹼基排列成鹼基序列，其中A与T之间由两个氢键连接，G与C之间由三个氢键连接，碱基对的排列在DNA中也只能是A对T，G对C。其中一部分的鹼基對組成了大約20000到25000個蛋白質編碼<a href="/wiki/%E5%9F%BA%E5%9B%A0" title="基因">基因</a>。 </p><p>全世界的<a href="/wiki/%E7%94%9F%E7%89%A9%E5%AD%B8" class="mw-redirect" title="生物學">生物學</a>與<a href="/wiki/%E9%86%AB%E5%AD%B8" class="mw-redirect" title="醫學">醫學</a>界在<a href="/wiki/%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84%E8%A8%88%E7%95%AB" class="mw-redirect" title="人類基因組計畫">人類基因組計畫</a>中，調查人類基因組中的<a href="/wiki/%E7%9C%9F%E6%9F%93%E8%89%B2%E8%B3%AA" title="真染色質">真染色質</a><a href="/wiki/%E5%9F%BA%E5%9B%A0%E5%BA%8F%E5%88%97" class="mw-redirect" title="基因序列">基因序列</a>，發現人類的基因数量比原先預期的少得多，其中的<a href="/wiki/%E5%A4%96%E6%98%BE%E5%AD%90" title="外显子">外顯子</a>，也就是能夠製造<a href="/wiki/%E8%9B%8B%E7%99%BD%E8%B3%AA" class="mw-redirect" title="蛋白質">蛋白質</a>的編碼序列，只佔總長度的1.5%<sup id="cite_ref-IHSGC2001_1-0" class="reference"><a href="#cite_note-IHSGC2001-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup>。 </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="組成"><span id=".E7.B5.84.E6.88.90"></span>組成</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&section=1" title="编辑章节：組成"><span>编辑</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-heading mw-heading3"><h3 id="染色體"><span id=".E6.9F.93.E8.89.B2.E9.AB.94"></span>染色體</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&section=2" title="编辑章节：染色體"><span>编辑</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure typeof="mw:File/Thumb"><a href="/wiki/File:Human_genome_to_genes_zh.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/f/fc/Human_genome_to_genes_zh.png/300px-Human_genome_to_genes_zh.png" decoding="async" width="300" height="179" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/f/fc/Human_genome_to_genes_zh.png/450px-Human_genome_to_genes_zh.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/f/fc/Human_genome_to_genes_zh.png/600px-Human_genome_to_genes_zh.png 2x" data-file-width="1454" data-file-height="866" /></a><figcaption>人類基因組是由23對<a href="/wiki/%E6%9F%93%E8%89%B2%E9%AB%94" class="mw-redirect" title="染色體">染色體</a>（共46個）所構成，每一個染色體皆含有數百個<a href="/wiki/%E5%9F%BA%E5%9B%A0" title="基因">基因</a>，在基因與基因之間，會有一段可能含有<a class="mw-selflink-fragment" href="#調控序列">調控序列</a>和非編碼DNA的<a href="/wiki/%E5%9F%BA%E5%9B%A0%E9%96%93%E5%8D%80%E6%AE%B5" title="基因間區段">基因間區段</a>。</figcaption></figure> <p>人類擁有23對不同的<a href="/wiki/%E6%9F%93%E8%89%B2%E9%AB%94" class="mw-redirect" title="染色體">染色體</a>，其中22對屬於<a href="/wiki/%E5%B8%B8%E6%9F%93%E8%89%B2%E9%AB%94" class="mw-redirect" title="常染色體">常染色體</a>（<a href="/wiki/%E9%AB%94%E6%9F%93%E8%89%B2%E9%AB%94" class="mw-redirect" title="體染色體">體染色體</a>），另外還有1對能夠決定性別的<a href="/wiki/%E6%80%A7%E6%9F%93%E8%89%B2%E9%AB%94" title="性染色體">性染色體</a>，分別是2或1條<a href="/wiki/X%E6%9F%93%E8%89%B2%E9%AB%94" title="X染色體">X染色體</a>與0或1條<a href="/wiki/Y%E6%9F%93%E8%89%B2%E9%AB%94" title="Y染色體">Y染色體</a>。1號到22號染色體的編號順序，大致符合他們由大到小的尺寸排列。最大的染色體約含有2億5千萬個鹼基對，最小的則約有3800萬個鹼基對<sup id="cite_ref-LGG_2-0" class="reference"><a href="#cite_note-LGG-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup>。這些染色體通常以細絲狀存於<a href="/wiki/%E7%B4%B0%E8%83%9E%E6%A0%B8" class="mw-redirect" title="細胞核">細胞核</a>內，若將單一細胞內的染色體拉成直線，那麼將大約有1.83公尺（6英尺）長<sup id="cite_ref-GEN_3-0" class="reference"><a href="#cite_note-GEN-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup>（1英尺=30.48公分）。 </p><p>在人類個體的<a href="/wiki/%E4%BD%93%E7%BB%86%E8%83%9E" title="体细胞">體細胞</a>中，通常含有來自親代的1到22對體染色體，再加上來自母親的X染色體，以及來自父親的X或Y染色體，總共是46個（23對）染色體。科學家將這些染色體分為7組：1號到3號是A組；4號與5號是B組；X染色體以及6號到12號是C組；13號到15號是D組；16號到18號是E組；19號與20號是F組；21號、22號與Y染色體是G組<sup id="cite_ref-DGAS_4-0" class="reference"><a href="#cite_note-DGAS-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup>。對於一般人類來說，每個細胞核內只有兩套染色體。 </p> <div class="mw-heading mw-heading3"><h3 id="基因"><span id=".E5.9F.BA.E5.9B.A0"></span>基因</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&section=3" title="编辑章节：基因"><span>编辑</span></a><span class="mw-editsection-bracket">]</span></span></div> <table class="wikitable" style="float: top; margin:0 0 1em 1em; clear: left;"> <tbody><tr> <th colspan="3"><b>人類與其他物種的基因組比較（大約）</b><sup id="cite_ref-Watson_5-0" class="reference"><a href="#cite_note-Watson-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-DGAS_4-1" class="reference"><a href="#cite_note-DGAS-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </th></tr> <tr> <th><small>物種</small> </th> <th><small>鹼基對數量</small> </th> <th><small>基因數量</small> </th></tr> <tr> <td><small><i>Mycoplasma genitalium</i><br /><a href="/wiki/%E9%BB%B4%E6%BC%BF%E8%8F%8C" class="mw-redirect" title="黴漿菌">黴漿菌</a>（生殖器支原體）</small> </td> <td>580,000 </td> <td>500 </td></tr> <tr> <td><small><i>Streptococcus pneumoniae</i><br /><a href="/wiki/%E8%82%BA%E7%82%8E%E9%9B%99%E7%90%83%E8%8F%8C" class="mw-redirect" title="肺炎雙球菌">肺炎雙球菌</a></small> </td> <td>2,200,000 </td> <td>2,300 </td></tr> <tr> <td><small><i>Haemophilus influenzae</i><br /><a href="/wiki/%E6%B5%81%E6%84%9F%E5%97%9C%E8%A1%80%E6%A1%BF%E8%8F%8C" title="流感嗜血桿菌">流感嗜血桿菌</a></small> </td> <td>1,830,140 </td> <td>1,700 </td></tr> <tr> <td><small><i>Escherichia coli</i><br /><a href="/wiki/%E5%A4%A7%E8%85%B8%E6%A1%BF%E8%8F%8C" title="大腸桿菌">大腸桿菌</a></small> </td> <td>4,600,000 </td> <td>4,400 </td></tr> <tr> <td><small><i>Saccharomyces cerevisiae</i><br /><a href="/wiki/%E9%87%80%E9%85%92%E9%85%B5%E6%AF%8D" title="釀酒酵母">釀酒酵母</a></small> </td> <td>12,000,000 </td> <td>5,538 </td></tr> <tr> <td><small><i>Caenorhabditis elegans</i><br /><a href="/wiki/%E7%A7%80%E4%B8%BD%E9%9A%90%E6%9D%86%E7%BA%BF%E8%99%AB" class="mw-redirect" title="秀丽隐杆线虫">秀麗隱杆線蟲</a></small> </td> <td>97,000,000 </td> <td>18,250 </td></tr> <tr> <td><small><i>Arabidopsis thaliana</i><br /><a href="/wiki/%E9%98%BF%E6%8B%89%E4%BC%AF%E8%8A%A5" class="mw-redirect" title="阿拉伯芥">阿拉伯芥</a>（擬南芥）</small> </td> <td>125,000,000 </td> <td>25,500 </td></tr> <tr> <td><small><i>Drosophila melanogaster</i><br /><a href="/wiki/%E9%BB%91%E8%85%B9%E6%9E%9C%E8%A0%85" class="mw-redirect" title="黑腹果蠅">黑腹果蠅</a></small> </td> <td>180,000,000 </td> <td>13,350 </td></tr> <tr> <td><small><i>Oryza sativa</i><br /><a href="/wiki/%E7%A8%BB" title="稻">亞洲稻</a></small> </td> <td>466,000,000 </td> <td>45,000-55,000 </td></tr> <tr> <td><small><i>Mus musculus</i><br /><a href="/wiki/%E5%B0%8F%E5%AE%B6%E9%BC%A0" title="小家鼠">小家鼠</a></small> </td> <td>2,500,000,000 </td> <td>29,000 </td></tr> <tr> <td><small><i>Homo sapiens</i><br /><a href="/wiki/%E4%BA%BA%E9%A1%9E" title="人類">人類</a></small> </td> <td>2,900,000,000 </td> <td>27,000 </td></tr></tbody></table> <p>人體內估計約有20000到25000個蛋白質編碼<a href="/wiki/%E5%9F%BA%E5%9B%A0" title="基因">基因</a>。原本這個估計的數目超過100000，在更好的基因組序列品質與基因識別技術出現之後，才逐漸向下修正為現在的數字。雖然人類的基因數量比起某些較為原始的生物（如<a href="/wiki/%E7%BA%BF%E8%99%AB" class="mw-redirect" title="线虫">線蟲</a>與<a href="/wiki/%E6%9E%9C%E8%A0%85" class="mw-redirect mw-disambig" title="果蠅">果蠅</a>）更少，但是在人類細胞中使用了大量的<a href="/wiki/%E9%81%B8%E6%93%87%E6%80%A7%E5%89%AA%E6%8E%A5" title="選擇性剪接">選擇性剪接</a>（alternative splicing；將穿插在內含子中的外顯子以選擇性的方式進行<a href="/wiki/%E8%BD%89%E9%8C%84" class="mw-redirect" title="轉錄">轉錄</a>），這使得一個基因能夠製造出多種不同的蛋白質，且人類的<a href="/wiki/%E8%9B%8B%E7%99%BD%E8%B3%AA%E7%B5%84" class="mw-redirect" title="蛋白質組">蛋白質組</a>規模也較前述的兩個物種更龐大。 </p><p>大多數人類基因擁有許多的<a href="/wiki/%E5%A4%96%E6%98%BE%E5%AD%90" title="外显子">外顯子</a>，且人類的<a href="/wiki/%E5%86%85%E5%90%AB%E5%AD%90" title="内含子">內含子</a>比位在其兩端的外顯子更長。這些基因參差不齊地分佈在染色體中，每一個染色體皆含有一些基因較多的區段與基因較少的區段。這些區段的差異，則與<a href="/w/index.php?title=%E6%9F%93%E8%89%B2%E9%AB%94%E5%B8%B6&action=edit&redlink=1" class="new" title="染色體帶（页面不存在）">染色體帶</a>（chromosome bands）及<a href="/wiki/GC%E5%90%AB%E9%87%8F" title="GC含量">GC含量</a>相關。基因密度所顯現的非隨機模式之涵義與重要性尚未明瞭。 </p><p>除了蛋白質編碼基因之外，人類的基因組還包含了數千個<a href="/wiki/RNA%E5%9F%BA%E5%9B%A0" class="mw-redirect" title="RNA基因">RNA基因</a>（製造<a href="/wiki/%E9%9D%9E%E7%B7%A8%E7%A2%BCRNA" class="mw-redirect" title="非編碼RNA">非編碼RNA</a>），其中包括用來轉錄<a href="/wiki/%E8%BD%89%E9%81%8BRNA" class="mw-redirect" title="轉運RNA">轉運RNA</a>（tRNA）、<a href="/wiki/%E6%A0%B8%E7%B3%96%E9%AB%94RNA" class="mw-redirect" title="核糖體RNA">核糖體RNA</a>（rRNA）與<a href="/wiki/%E4%BF%A1%E4%BD%BFRNA" class="mw-redirect" title="信使RNA">信使RNA</a>（mRNA）的基因。其中轉錄rRNA的基因稱為rDNA，分佈在許多不同的染色體上。 </p> <div class="mw-heading mw-heading3"><h3 id="調控序列"><span id=".E8.AA.BF.E6.8E.A7.E5.BA.8F.E5.88.97"></span>調控序列</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&section=4" title="编辑章节：調控序列"><span>编辑</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>人類基因組含有許多不同的調控序列，並以此來控制<a href="/wiki/%E5%9F%BA%E5%9B%A0%E8%A1%A8%E7%8F%BE" title="基因表現">基因表現</a>。這些序列是典型的短序列，會出現在靠近基因的位置。由於<b>高通量表達</b>（high-throughput expression；指利用電腦與機器輔助以進行大量的序列分析）技術與<a href="/wiki/%E6%AF%94%E8%BE%83%E5%9F%BA%E5%9B%A0%E7%BB%84%E5%AD%A6" title="比较基因组学">比較基因組學</a>研究的出現，人們開始系統性地了解這些調控序列，以及它們共同構成的<a href="/w/index.php?title=%E5%9F%BA%E5%9B%A0%E8%AA%BF%E6%8E%A7%E7%B6%B2%E8%B7%AF&action=edit&redlink=1" class="new" title="基因調控網路（页面不存在）">基因調控網路</a>（gene regulatory network）。 </p><p>人們之所以能夠出辨認哪些基因序列是調控序列，是因為生物在<a href="/wiki/%E6%BC%94%E5%8C%96" title="演化">演化</a>過程中對基因的保留。以大約7千萬年前到9千萬年前分支的<a href="/wiki/%E4%BA%BA%E9%A1%9E" title="人類">人類</a>與<a href="/wiki/%E8%80%81%E9%BC%A0" class="mw-redirect" title="老鼠">老鼠</a>為例<sup id="cite_ref-6" class="reference"><a href="#cite_note-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup>：若以<a href="/wiki/%E9%9B%BB%E8%85%A6" class="mw-redirect" title="電腦">電腦</a>比較兩者的基因序列，並且將兩者皆保有的非編碼序列辨識出來，就可以知道哪些基因序列可能對於基因調控來說相當重要<sup id="cite_ref-7" class="reference"><a href="#cite_note-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup>。 </p><p>人類所擁有的調控序列所在位置，可以利用<a href="/wiki/%E6%B2%B3%E8%B1%9A" class="mw-disambig" title="河豚">河豚</a>的基因定位出來。因為河豚與人類擁有相同的基因，同時也擁有和人類相同的調控序列，但是「垃圾」基因比人類更少。如此較為簡潔的DNA序列，使得調控基因的位置較容易定位<sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup>。 </p> <div class="mw-heading mw-heading3"><h3 id="其他DNA"><span id=".E5.85.B6.E4.BB.96DNA"></span>其他DNA</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&section=5" title="编辑章节：其他DNA"><span>编辑</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>蛋白質編碼序列（也就是<a href="/wiki/%E5%A4%96%E6%98%BE%E5%AD%90" title="外显子">外顯子</a>）在人類基因組中少於1.5%<sup id="cite_ref-IHSGC2001_1-1" class="reference"><a href="#cite_note-IHSGC2001-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup>。在基因與調控序列之外，仍然有許多功能未知的廣大區域。科學家估計這些區域在人類基因組中約占有97%，其中許多是屬於<a href="/wiki/%E9%87%8D%E8%A4%87%E5%BA%8F%E5%88%97" title="重複序列">重複序列</a>（<a href="/wiki/%E9%87%8D%E8%A4%87%E5%BA%8F%E5%88%97" title="重複序列">重複序列</a>）、<a href="/wiki/%E8%BD%89%E4%BD%8D%E5%AD%90" class="mw-redirect" title="轉位子">轉位子</a>（transposon）與<a href="/wiki/%E5%81%BD%E5%9F%BA%E5%9B%A0" class="mw-redirect" title="偽基因">偽基因</a>（pseudogene）。除此之外，還有大量序列不屬於上述的已知分類。 </p><p>這些序列大多數可能是<a href="/wiki/%E6%BC%94%E5%8C%96" title="演化">演化</a>的產物，現在已經沒有作用，也因此有時會被稱作是「<a href="/wiki/%E5%9E%83%E5%9C%BEDNA" class="mw-redirect" title="垃圾DNA">垃圾DNA</a>」（junk DNA）<sup id="cite_ref-9" class="reference"><a href="#cite_note-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup>。不過有一些跡象顯示，這些序列可能會經由某些仍然未知的方式產生作用。最近一些使用<a href="/wiki/DNA%E5%BE%AE%E9%99%A3%E5%88%97" title="DNA微陣列">微陣列技術</a>所作的實驗發現，大量非基因DNA事實上會被<a href="/wiki/%E8%BD%89%E9%8C%84" class="mw-redirect" title="轉錄">轉錄</a>成為RNA<sup id="cite_ref-10" class="reference"><a href="#cite_note-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup>，這顯示轉錄作用背後可能還存在一些未知的機制。此外，不同種類的哺乳動物在演化的過程中共同保留了這些序列，也顯示基因組中還有很多作用未知的部分<sup id="cite_ref-Mouse2004_11-0" class="reference"><a href="#cite_note-Mouse2004-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup>。人類基因組內大量功能未知的序列，是目前科學研究的重點之一。 </p> <div class="mw-heading mw-heading2"><h2 id="變異"><span id=".E8.AE.8A.E7.95.B0"></span>變異</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&section=6" title="编辑章节：變異"><span>编辑</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>大多數對於人類遺傳變異的研究集中在<a href="/wiki/%E5%96%AE%E4%B8%80%E6%A0%B8%E8%8B%B7%E9%85%B8%E5%A4%9A%E5%9E%8B%E6%80%A7" class="mw-redirect" title="單一核苷酸多型性">單一核苷酸多型性</a>（single nucleotide polymorphisms；SNPs），也就是DNA中的個別<a href="/wiki/%E9%B9%BC%E5%9F%BA" class="mw-disambig" title="鹼基">鹼基</a>變換。科學家分析估計，在人類的<a href="/wiki/%E7%9C%9F%E6%9F%93%E8%89%B2%E8%B3%AA" title="真染色質">真染色質</a>（富含基因的染色質）中，平均每100到1000個<a href="/wiki/%E9%B9%BC%E5%9F%BA" class="mw-disambig" title="鹼基">鹼基</a>會出現1個SNPs，不過密度並不均勻。由於SNPs的存在，如「所有人類的基因有99%都是相同的」一的說法並不精確。<a href="/wiki/%E5%9B%BD%E9%99%85%E4%BA%BA%E7%B1%BB%E5%9F%BA%E5%9B%A0%E7%BB%84%E5%8D%95%E4%BD%93%E5%9E%8B%E5%9B%BE%E8%AE%A1%E5%88%92" title="国际人类基因组单体型图计划">國際人類基因組單體型圖計劃</a>（International HapMap Project），便是爲了要將人類基因組中的SNP變異作編錄，而組成的一個大規模合作計畫。 </p><p>基因組中有一些小型的<a href="/wiki/%E9%87%8D%E8%A4%87%E5%BA%8F%E5%88%97" title="重複序列">重複序列</a>，它們所擁有的<a href="/wiki/%E5%9F%BA%E5%9B%A0%E5%BA%A7" title="基因座">基因座</a>與基因長度，在不同的人類個體之間有很大的變異性。這也是<a href="/wiki/DNA%E6%8C%87%E7%B4%8B" class="mw-redirect" title="DNA指紋">DNA指紋</a>（DNA fingerprinting）與<a href="/wiki/%E8%A6%AA%E5%AD%90%E9%91%91%E5%AE%9A" class="mw-redirect" title="親子鑑定">親子鑑定</a>（paternity testing）技術得以應用的基礎。<a href="/wiki/%E7%95%B0%E6%9F%93%E8%89%B2%E8%B3%AA" title="異染色質">異染色質</a>（heterochromatin）是人類基因組的一些部分，總共包括有數百萬個<a href="/wiki/%E9%B9%BC%E5%9F%BA%E5%B0%8D" class="mw-redirect" title="鹼基對">鹼基對</a>，這些鹼基對在人類族群之中的變異性也相當大。而且由於異染色質的重複性很高而且長度很長，因此目前的技術仍然無法精確地解出它們的序列。此外異染色質不含基因，對於表現型也沒有顯著的作用。 </p><p><a href="/wiki/%E9%85%8D%E5%AD%90" title="配子">配子</a>細胞中大多數的基因組突變，可能會造成<a href="/wiki/%E8%83%9A%E8%83%8E" title="胚胎">胚胎</a>不正常發育，而人類的一些疾病也與大尺度的基因組異常有關。例如<a href="/wiki/%E5%94%90%E6%B0%8F%E7%97%87" class="mw-redirect" title="唐氏症">唐氏症</a>、<a href="/wiki/%E9%80%8F%E7%B4%8D%E6%B0%8F%E7%97%87" class="mw-redirect" title="透納氏症">透納氏症</a>（Turner Syndrome），以及許多其他疾病，是染色體的<a href="/w/index.php?title=%E4%B8%8D%E5%88%86%E9%9B%A2&action=edit&redlink=1" class="new" title="不分離（页面不存在）">不分離</a>（nondisjunction）現象所造成。在<a href="/wiki/%E7%99%8C%E7%97%87" title="癌症">癌</a>細胞中的染色體，則是頻繁地出現<a href="/w/index.php?title=%E9%9D%9E%E6%95%B4%E5%80%8D%E6%80%A7&action=edit&redlink=1" class="new" title="非整倍性（页面不存在）">非整倍性</a>（aneuploidy）現象，不過這種現象與癌症之間的關係仍然不明。 </p><p>2006年一篇發表在《<a href="/wiki/%E8%87%AA%E7%84%B6_(%E6%9C%9F%E5%88%8A)" title="自然 (期刊)">自然</a>》的研究報告中<sup id="cite_ref-12" class="reference"><a href="#cite_note-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup>，研究人員發現在人類與其他哺乳類DNA序列中的<a href="/w/index.php?title=%E6%8B%B7%E8%B2%9D%E6%95%B8%E8%AE%8A%E7%95%B0&action=edit&redlink=1" class="new" title="拷貝數變異（页面不存在）">拷貝數變異</a>（copy number variation；CNV），可能非常重要。<a href="/w/index.php?title=%E6%8B%B7%E8%B2%9D%E6%95%B8%E8%AE%8A%E7%95%B0&action=edit&redlink=1" class="new" title="拷貝數變異（页面不存在）">拷貝數變異</a>又稱為<a href="/w/index.php?title=%E6%8B%B7%E8%B2%9D%E6%95%B8%E5%A4%9A%E5%9E%8B%E6%80%A7&action=edit&redlink=1" class="new" title="拷貝數多型性（页面不存在）">拷貝數多型性</a>（copy number polymorphisms；CNPs），是缺失（deletion）、插入（insertion）、複寫（duplication），以及複雜多位置變異（complex multi-site variants）的合稱，在所有人類以及其他已測試的哺乳動物中皆可發現。 </p> <div class="mw-heading mw-heading2"><h2 id="遺傳疾病"><span id=".E9.81.BA.E5.82.B3.E7.96.BE.E7.97.85"></span>遺傳疾病</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&section=7" title="编辑章节：遺傳疾病"><span>编辑</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r84833064">.mw-parser-output .hatnote{font-size:small}.mw-parser-output div.hatnote{padding-left:2em;margin-bottom:0.8em;margin-top:0.8em}.mw-parser-output .hatnote-notice-img::after{content:"\202f \202f \202f \202f "}.mw-parser-output .hatnote-notice-img-small::after{content:"\202f \202f "}.mw-parser-output .hatnote+link+.hatnote{margin-top:-0.5em}body.skin-minerva .mw-parser-output .hatnote-notice-img,body.skin-minerva .mw-parser-output .hatnote-notice-img-small{display:none}@media print{body.ns-0 .mw-parser-output .hatnote{display:none!important}}</style><div role="note" class="hatnote navigation-not-searchable">参见：<a href="/wiki/%E9%81%BA%E5%82%B3%E7%96%BE%E7%97%85" class="mw-redirect" title="遺傳疾病">遺傳疾病</a></div> <p>當一個或多個基因發生不正常表現時，便可能會使某個相對應的表型產生一些症狀。遺傳異常的原因包括了<a href="/wiki/%E5%9F%BA%E5%9B%A0%E7%AA%81%E5%8F%98" class="mw-redirect" title="基因突变">基因突變</a>、<a href="/w/index.php?title=%E6%9F%93%E8%89%B2%E9%AB%94%E6%95%B8%E7%9B%AE%E7%95%B0%E5%B8%B8&action=edit&redlink=1" class="new" title="染色體數目異常（页面不存在）">染色體數目異常</a>，或是<a href="/w/index.php?title=%E4%B8%89%E8%81%AF%E9%AB%94%E6%93%B4%E5%BC%B5%E9%87%8D%E8%A4%87%E7%AA%81%E8%AE%8A&action=edit&redlink=1" class="new" title="三聯體擴張重複突變（页面不存在）">三聯體擴張重複突變</a>（triplet expansion repeat mutations）。如果受損的基因會從親代遺傳到子代，那就會成為一種遺傳性疾病。目前已知有大約4000種遺傳疾病，<a href="/wiki/%E5%9B%8A%E8%85%AB%E6%80%A7%E7%BA%96%E7%B6%AD%E5%8C%96" title="囊腫性纖維化">囊腫性纖維化</a>是其中最普遍的疾病之一。 </p><p>科學家通常會以<a href="/wiki/%E7%BE%A4%E9%AB%94%E9%81%BA%E5%82%B3%E5%AD%B8" class="mw-redirect" title="群體遺傳學">群體遺傳學</a>的方法進行遺傳疾病的研究，對於疾病的治療，則是由一些經過臨床遺傳學訓練，且同時也是遺傳學家的醫生來進行。<a href="/wiki/%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84%E8%A8%88%E7%95%AB" class="mw-redirect" title="人類基因組計畫">人類基因組計畫</a>的成果，使<a href="/w/index.php?title=%E9%81%BA%E5%82%B3%E6%AA%A2%E6%B8%AC&action=edit&redlink=1" class="new" title="遺傳檢測（页面不存在）">遺傳檢測</a>技術能夠更有效地檢查出一些與基因有關的疾病，並且改進治療方法。父母能夠透過<a href="/wiki/%E9%81%97%E4%BC%A0%E5%92%A8%E8%AF%A2" title="遗传咨询">遺傳諮詢</a>來偵詢一些遺傳症狀的嚴重性、遺傳的機率，以及如何避免或是改善這些症狀。 </p><p><a href="/wiki/%E5%9F%BA%E5%9B%A0%E5%89%82%E9%87%8F" title="基因剂量">基因劑量</a>（Gene dosage）會對人類的<a href="/wiki/%E8%A1%A8%E7%8F%BE%E5%9E%8B" title="表現型">表現型</a>產生龐大的影響，對於染色體中造成疾病的複寫、省略與分裂等現象的形成擁有一定的角色。例如<a href="/wiki/%E5%94%90%E6%B0%8F%E7%97%87" class="mw-redirect" title="唐氏症">唐氏症</a>患者（21號染色體為<a href="/wiki/%E6%9F%93%E8%89%B2%E9%AB%94%E5%80%8D%E6%80%A7" title="染色體倍性">三體</a>）有較高的比率得到<a href="/wiki/%E9%98%BF%E8%8C%B2%E6%B5%B7%E9%BB%98%E7%97%87" class="mw-redirect" title="阿茲海默症">阿茲海默症</a>，可能是因為與阿茲海默症有關的<a href="/w/index.php?title=%E9%A1%9E%E6%BE%B1%E7%B2%89%E5%89%8D%E8%B6%A8%E8%9B%8B%E7%99%BD&action=edit&redlink=1" class="new" title="類澱粉前趨蛋白（页面不存在）">類澱粉前趨蛋白</a>基因（位在<a href="/wiki/21%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94_(%E4%BA%BA%E9%A1%9E)" class="mw-redirect" title="21號染色體 (人類)">21號染色體</a>上）的過度表現所致<sup id="cite_ref-Armstrong_13-0" class="reference"><a href="#cite_note-Armstrong-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup>。而且相對而言，唐氏症患者中則有較低的比率得到<a href="/wiki/%E4%B9%B3%E7%99%8C" title="乳癌">乳癌</a>，可能是因為<a href="/wiki/%E8%82%BF%E7%98%A4%E6%8A%91%E5%88%B6%E5%9F%BA%E5%9B%A0" title="肿瘤抑制基因">腫瘤抑制基因</a>（tumor-suppressor gene）的過度表現<sup id="cite_ref-Kwak_14-0" class="reference"><a href="#cite_note-Kwak-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup>。 </p> <div class="mw-heading mw-heading2"><h2 id="演化"><span id=".E6.BC.94.E5.8C.96"></span>演化</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&section=8" title="编辑章节：演化"><span>编辑</span></a><span class="mw-editsection-bracket">]</span></span></div> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r84833064"><div role="note" class="hatnote navigation-not-searchable">参见：<a href="/wiki/%E4%BA%BA%E9%A1%9E%E6%BC%94%E5%8C%96" title="人類演化">人類演化</a></div> <p><a href="/wiki/%E6%AF%94%E8%BE%83%E5%9F%BA%E5%9B%A0%E7%BB%84%E5%AD%A6" title="比较基因组学">比較基因組學</a>（Comparative genomics）對於哺乳類基因組的研究顯示，人類與大約兩億年前就已經分化的各物種相比，有大約5%的比例在人類基因組中保留了下來，其中包含許多的基因與調控序列。而且人類與大多數已知的脊椎動物間，也享有了一些相同的基因。 </p><p><a href="/wiki/%E9%BB%91%E7%8C%A9%E7%8C%A9" title="黑猩猩">黑猩猩</a>的基因組與人類的基因組之間，有98.77%是相似的。而平均每一個屬於人類的標準蛋白質編碼基因，只與屬於黑猩猩的<a href="/wiki/%E5%90%8C%E6%BA%90%E5%9F%BA%E5%9B%A0" title="同源基因">同源基因</a>相差兩個<a href="/wiki/%E6%B0%A8%E5%9F%BA%E9%85%B8" title="氨基酸">氨基酸</a>；並且有將近三分之一的人類基因與黑猩猩的同源基因，能夠轉譯出相同的蛋白質。人類的<a href="/wiki/2%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94_(%E4%BA%BA%E9%A1%9E)" class="mw-redirect" title="2號染色體 (人類)">2號染色體</a>，是人類與黑猩猩基因組之間的主要差異，這一條染色體是由黑猩猩的染色體<a href="/w/index.php?title=12%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94_(%E9%BB%91%E7%8C%A9%E7%8C%A9)&action=edit&redlink=1" class="new" title="12號染色體 (黑猩猩)（页面不存在）">12號</a>與<a href="/w/index.php?title=13%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94_(%E9%BB%91%E7%8C%A9%E7%8C%A9)&action=edit&redlink=1" class="new" title="13號染色體 (黑猩猩)（页面不存在）">13號</a>融合而成<sup id="cite_ref-15" class="reference"><a href="#cite_note-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup>。 </p><p>人類在晚近的演化過程中失去了<a href="/wiki/%E5%97%85%E8%A6%BA%E5%8F%97%E5%99%A8" title="嗅覺受器">嗅覺受器</a><a href="/wiki/%E5%9F%BA%E5%9B%A0" title="基因">基因</a>，這解釋了為何人類比起其他的哺乳動物來說，擁有較差的<a href="/wiki/%E5%97%85%E8%A6%BA" class="mw-redirect" title="嗅覺">嗅覺</a>。演化上的證據顯示，人類與某些<a href="/wiki/%E9%9D%88%E9%95%B7%E9%A1%9E" class="mw-redirect" title="靈長類">靈長類</a>所擁有的<a href="/wiki/%E5%BD%A9%E8%89%B2%E8%A7%86%E8%A7%89" title="彩色视觉">彩色視覺</a>，降低了這些物種對於嗅覺能力的需求<sup id="cite_ref-16" class="reference"><a href="#cite_note-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup>。 </p> <div class="mw-heading mw-heading2"><h2 id="粒線體基因組"><span id=".E7.B2.92.E7.B7.9A.E9.AB.94.E5.9F.BA.E5.9B.A0.E7.B5.84"></span>粒線體基因組</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&section=9" title="编辑章节：粒線體基因組"><span>编辑</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>大多數的基因是存在<a href="/wiki/%E7%B4%B0%E8%83%9E%E6%A0%B8" class="mw-redirect" title="細胞核">細胞核</a>中，但是細胞中一個稱為<a href="/wiki/%E7%B2%92%E7%B7%9A%E9%AB%94" class="mw-redirect" title="粒線體">粒線體</a>的<a href="/wiki/%E8%83%9E%E5%99%A8" class="mw-redirect" title="胞器">胞器</a>，也擁有自己的基因組。粒線體基因組在<a href="/w/index.php?title=%E7%B2%92%E7%B7%9A%E9%AB%94%E7%96%BE%E7%97%85&action=edit&redlink=1" class="new" title="粒線體疾病（页面不存在）">粒線體疾病</a>（mitochondrial disease）中具有一定的重要性。而且這些基因也可以用來研究<a href="/wiki/%E4%BA%BA%E9%A1%9E%E6%BC%94%E5%8C%96" title="人類演化">人類的演化</a>，舉例而言，若分析人類粒線體基因組的變異情況，將能夠使科學家描繪出人類的共同祖先，稱為「<a href="/wiki/%E7%B2%92%E7%B7%9A%E9%AB%94%E5%A4%8F%E5%A8%83" title="粒線體夏娃">粒線體夏娃</a>」（Mitochondrial Eve）。之所以稱為<a href="/wiki/%E5%A4%8F%E5%A8%83" title="夏娃">夏娃</a>，是因為粒線體是位於<a href="/wiki/%E7%B4%B0%E8%83%9E%E8%B3%AA" title="細胞質">細胞質</a>中，而人類的精子與卵子結合時，源自母親（女性）的卵子提供了絕大多數的細胞質，因此人類細胞中的粒線體基因皆是來自母親。 </p><p>由於<a href="/wiki/%E7%B2%92%E7%B7%9A%E9%AB%94" class="mw-redirect" title="粒線體">粒線體</a>缺乏用來檢查複製錯誤的能力，因此粒線體DNA（mDNA）的變異速率比細胞核DNA（一般所指的DNA）更快。粒線體的突變速率快了20倍，這使mDNA能夠用來較為精確地追溯出母系祖先。研究族群中的mDNA，也能使人們得知此族群過去的遷移路徑，例如來自<a href="/wiki/%E8%A5%BF%E4%BC%AF%E5%88%A9%E4%BA%9E" class="mw-redirect" title="西伯利亞">西伯利亞</a>的<a href="/wiki/%E7%BE%8E%E6%B4%B2%E5%8E%9F%E4%BD%8F%E6%B0%91" title="美洲原住民">美洲原住民</a>；以及來自<a href="/wiki/%E6%9D%B1%E5%8D%97%E4%BA%9E" class="mw-redirect" title="東南亞">東南亞</a>的<a href="/wiki/%E6%B3%A2%E9%87%8C%E5%B0%BC%E8%A5%BF%E4%BA%9E" class="mw-redirect" title="波里尼西亞">波里尼西亞</a>人。更有甚者，mDNA研究顯示在歐洲人的基因中並無參雜<a href="/wiki/%E5%B0%BC%E5%AE%89%E5%BE%B7%E5%A1%94%E4%BA%BA" class="mw-redirect" title="尼安德塔人">尼安德塔人</a>的DNA<sup id="cite_ref-17" class="reference"><a href="#cite_note-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup>。 </p><p>與每個細胞核皆只有兩套染色體組成的核基因組不同，粒線體基因組在每個粒線體當中，皆有大約10個以環狀DNA，整個細胞裡則約有8000個。每個環DNA上有16569個鹼基對，共組成37個基因，其中13個是蛋白質編碼，22個是RNA基因<sup id="cite_ref-18" class="reference"><a href="#cite_note-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup>。這些基因大多與<a href="/wiki/%E5%91%BC%E5%90%B8%E4%BD%9C%E7%94%A8" title="呼吸作用">呼吸作用</a>有關。 </p> <div class="mw-heading mw-heading2"><h2 id="研究"><span id=".E7.A0.94.E7.A9.B6"></span>研究</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&section=10" title="编辑章节：研究"><span>编辑</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-heading mw-heading3"><h3 id="人類基因組計畫"><span id=".E4.BA.BA.E9.A1.9E.E5.9F.BA.E5.9B.A0.E7.B5.84.E8.A8.88.E7.95.AB"></span>人類基因組計畫</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&section=11" title="编辑章节：人類基因組計畫"><span>编辑</span></a><span class="mw-editsection-bracket">]</span></span></div> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r84833064"><div role="note" class="hatnote navigation-not-searchable">主条目：<a href="/wiki/%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84%E8%A8%88%E7%95%AB" class="mw-redirect" title="人類基因組計畫">人類基因組計畫</a></div> <p><a href="/wiki/%E9%9B%B7%E7%BA%B3%E6%89%98%C2%B7%E6%9D%9C%E5%B0%94%E8%B4%9D%E7%A7%91" class="mw-redirect" title="雷纳托·杜尔贝科">雷纳托·杜爾貝科</a>（Renato Dulbecco；主要研究基因與腫瘤的關係）是最早提出人類基因組定序的科學家之一。他認為如果能夠知道所有人類基因的序列，對於<a href="/wiki/%E7%99%8C%E7%97%87" title="癌症">癌症</a>的研究將會很有幫助。不過以1986年的技術而言，若要將所有人類的DNA都定序完成，需要花上1500年。<a href="/wiki/%E7%BE%8E%E5%9C%8B%E8%83%BD%E6%BA%90%E9%83%A8" title="美國能源部">美國能源部</a>（DOE）與美國<a href="/wiki/%E5%9C%8B%E5%AE%B6%E8%A1%9B%E7%94%9F%E7%A0%94%E7%A9%B6%E9%99%A2" class="mw-redirect" title="國家衛生研究院">國家衛生研究院</a>（NIH），分別在1986年與1987年加入人類基因組計畫。除了美國之外，<a href="/wiki/%E6%97%A5%E6%9C%AC" title="日本">日本</a>在1981年就已經開始研究相關問題，但是並沒有美國那樣積極。 </p><p>到了1988年，<a href="/wiki/%E8%A9%B9%E5%A7%86%E5%A3%AB%C2%B7%E8%8F%AF%E7%94%9F" class="mw-redirect" title="詹姆士·華生">詹姆士·華生</a>（DNA雙螺旋結構發現者之一）成為NIH的基因組部門主管。1990年，開始國際合作。1996年，多個國家招開百慕達會議，以2005年完成定序為目標，分配了各國負責的工作，並且宣布研究結果將會即時公佈，並完全免費。 </p><p>1998年，<a href="/wiki/%E5%85%8B%E8%90%8A%E6%A0%BC%C2%B7%E5%87%A1%E7%89%B9" title="克萊格·凡特">克萊格·凡特</a>的<a href="/wiki/%E5%A1%9E%E9%9B%B7%E6%8B%89%E5%9F%BA%E5%9B%A0%E7%B5%84" class="mw-redirect" title="塞雷拉基因組">塞雷拉基因組</a>公司成立，邀請具基因定序之父的<a href="/w/index.php?title=%E9%99%B3%E5%A5%95%E9%9B%84&action=edit&redlink=1" class="new" title="陳奕雄（页面不存在）">陳奕雄</a>博士擔任首席科學家，開發出全世界第一台全自動定序儀，啟動了全自動定序的時代來到；賽雷拉宣布將在2001年完成定序工作。隨後，國際團隊也將完成工作的期限提前。2000年6月26日，塞雷拉公司的代表凡特，以及國際合作團隊的代表<a href="/wiki/%E5%BC%97%E6%9C%97%E8%A5%BF%E6%96%AF%C2%B7%E6%9F%AF%E6%9E%97%E6%96%AF" class="mw-redirect" title="弗朗西斯·柯林斯">弗朗西斯·柯林斯</a>（Francis Collins），在美國總統<a href="/wiki/%E6%AF%94%E5%B0%94%C2%B7%E5%85%8B%E6%9E%97%E9%A1%BF" title="比尔·克林顿">柯林頓</a>的陪同下發表演說，宣布人類基因組的概要已經完成。2001年2月，國際團隊與塞雷拉公司，分別將研究成果發表於《<a href="/wiki/%E8%87%AA%E7%84%B6_(%E6%9C%9F%E5%88%8A)" title="自然 (期刊)">自然</a>》與《<a href="/wiki/%E7%A7%91%E5%AD%B8_(%E6%9C%9F%E5%88%8A)" class="mw-redirect" title="科學 (期刊)">科學</a>》兩份期刊<sup id="cite_ref-LGG_2-1" class="reference"><a href="#cite_note-LGG-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup>。 </p><p>在基因組計畫的研究過程中，<a href="/w/index.php?title=%E9%99%B3%E5%A5%95%E9%9B%84&action=edit&redlink=1" class="new" title="陳奕雄（页面不存在）">陳奕雄</a>博士使用的是<a href="/wiki/%E9%9C%B0%E5%BD%88%E6%A7%8D%E5%AE%9A%E5%BA%8F%E6%B3%95" title="霰彈槍定序法">霰彈槍定序法</a>（shotgun sequencing），這種方法較為迅速，但是仍需以傳統定序來分析細節<sup id="cite_ref-19" class="reference"><a href="#cite_note-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup>。 </p> <div class="mw-heading mw-heading3"><h3 id="專利問題"><span id=".E5.B0.88.E5.88.A9.E5.95.8F.E9.A1.8C"></span>專利問題</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&section=12" title="编辑章节：專利問題"><span>编辑</span></a><span class="mw-editsection-bracket">]</span></span></div> <table class="wikitable" style="float:right; margin:0 0 1em 1em"> <tbody><tr> <th colspan="3"><b>23條染色體上的專利數目</b><sup id="cite_ref-SAGS_20-0" class="reference"><a href="#cite_note-SAGS-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup> </th></tr> <tr> <th><small>染色體編號</small> </th> <th><small>基因數目</small> </th> <th><small>專利數目</small> </th></tr> <tr> <td><small>1號</small> </td> <td>2769 </td> <td>504 </td></tr> <tr> <td><small>2號</small> </td> <td>1776 </td> <td>330 </td></tr> <tr> <td><small>3號</small> </td> <td>1445 </td> <td>307 </td></tr> <tr> <td><small>4號</small> </td> <td>1023 </td> <td>215 </td></tr> <tr> <td><small>5號</small> </td> <td>1261 </td> <td>254 </td></tr> <tr> <td><small>6號</small> </td> <td>1401 </td> <td>225 </td></tr> <tr> <td><small>7號</small> </td> <td>1410 </td> <td>232 </td></tr> <tr> <td><small>8號</small> </td> <td>952 </td> <td>208 </td></tr> <tr> <td><small>9號</small> </td> <td>1086 </td> <td>233 </td></tr> <tr> <td><small>10號</small> </td> <td>1042 </td> <td>170 </td></tr> <tr> <td><small>11號</small> </td> <td>1626 </td> <td>312 </td></tr> <tr> <td><small>12號</small> </td> <td>1347 </td> <td>252 </td></tr> <tr> <td><small>13號</small> </td> <td>477 </td> <td>97 </td></tr> <tr> <td><small>14號</small> </td> <td>821 </td> <td>155 </td></tr> <tr> <td><small>15號</small> </td> <td>915 </td> <td>141 </td></tr> <tr> <td><small>16號</small> </td> <td>1139 </td> <td>192 </td></tr> <tr> <td><small>17號</small> </td> <td>1471 </td> <td>313 </td></tr> <tr> <td><small>18號</small> </td> <td>408 </td> <td>74 </td></tr> <tr> <td><small>19號</small> </td> <td>1715 </td> <td>270 </td></tr> <tr> <td><small>20號</small> </td> <td>762 </td> <td>178 </td></tr> <tr> <td><small>21號</small> </td> <td>357 </td> <td>66 </td></tr> <tr> <td><small>22號</small> </td> <td>106 </td> <td>657 </td></tr> <tr> <td><small>X</small> </td> <td>1090 </td> <td>200 </td></tr> <tr> <td><small>Y</small> </td> <td>144 </td> <td>14 </td></tr></tbody></table> <p>從1981年到1995年間，全世界共有1175件DNA序列的專利許可。早期的申請對象主要是機能已知的基因，後來原屬於美國<a href="/wiki/%E5%9C%8B%E5%AE%B6%E8%A1%9B%E7%94%9F%E7%A0%94%E7%A9%B6%E9%99%A2" class="mw-redirect" title="國家衛生研究院">國家衛生研究院</a>的<a href="/wiki/%E5%85%8B%E8%90%8A%E6%A0%BC%C2%B7%E5%87%A1%E7%89%B9" title="克萊格·凡特">克萊格·凡特</a>，將2716件尚未了解功能的基因，<a href="/wiki/%E5%8F%8D%E8%BD%AC%E5%BD%95" class="mw-redirect" title="反转录">反轉錄</a>成<a href="/wiki/CDNA" class="mw-redirect" title="CDNA">cDNA</a>型式，並且提交<a href="/wiki/%E5%B0%88%E5%88%A9" class="mw-redirect" title="專利">專利</a>申請。這些申請受到了當時掌管NIH基因組部門的<a href="/wiki/%E8%A9%B9%E5%A7%86%E5%A3%AB%C2%B7%E8%8F%AF%E7%94%9F" class="mw-redirect" title="詹姆士·華生">詹姆士·華生</a>等許多科學家的反對，並且被專利局駁回<sup id="cite_ref-LGG_2-2" class="reference"><a href="#cite_note-LGG-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup>。 </p><p>目前人們對於基因資訊是否應該登記專利仍有爭議。由於學術研究並非營利性，因此通常不受這些專利所拘束。此外由於美國政府近年來將專利申請條件提高，因此與DNA有關的專利許可，在2001年之後已逐漸減少。到2005年4月為止，美國國家生計資訊中心所記載的基因資料中，有82%沒有專利標示，另外有14%屬於私人機構，3%屬於公家單位<sup id="cite_ref-SAGS_20-1" class="reference"><a href="#cite_note-SAGS-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup>。 </p><p>右表顯示2006年時每條染色體上的基因數目與專利數目，由於有時候會有多個基因登記成一項專利；或者是一個基因擁有多項專利，因此表中的基因與專利不一定有一對一的關係<sup id="cite_ref-SAGS_20-2" class="reference"><a href="#cite_note-SAGS-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup>。 </p> <div class="mw-heading mw-heading3"><h3 id="圖譜"><span id=".E5.9C.96.E8.AD.9C"></span>圖譜</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&section=13" title="编辑章节：圖譜"><span>编辑</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>基因組圖譜主要可以分成兩種，一種是<a href="/wiki/%E9%81%97%E4%BC%A0%E5%9B%BE%E8%B0%B1" class="mw-redirect" title="遗传图谱">遺傳圖譜</a>（genetic map），另一種則是<a href="/w/index.php?title=%E7%89%A9%E7%90%86%E5%9C%96%E8%AD%9C&action=edit&redlink=1" class="new" title="物理圖譜（页面不存在）">物理圖譜</a>（physical map）。遺傳圖譜是利用基因的<a href="/w/index.php?title=%E9%87%8D%E7%B5%84%E7%8E%87&action=edit&redlink=1" class="new" title="重組率（页面不存在）">重組率</a>來做分析，單位是<a href="/w/index.php?title=%E5%88%86%E8%8E%AB%E7%94%98&action=edit&redlink=1" class="new" title="分莫甘（页面不存在）">分莫甘</a>（centimorgan）。這種圖譜表現出來的是基因或特定DNA片段之間的相對位置，而不是它們各自的絕對位置。物理圖譜則是DNA兩點的實際距離，是實際將DNA片段排序而得，單位是鹼基的數目（如Kb；kilobase）。有時候物理圖譜上相隔很遠的基因，可能會因為發生互換的機率較少（雖然理論上相隔愈遠互換率愈高），而在遺傳圖譜上顯得較相近<sup id="cite_ref-21" class="reference"><a href="#cite_note-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup>。 </p> <div class="mw-heading mw-heading2"><h2 id="參考文獻"><span id=".E5.8F.83.E8.80.83.E6.96.87.E7.8D.BB"></span>參考文獻</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&section=14" title="编辑章节：參考文獻"><span>编辑</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-heading mw-heading3"><h3 id="引用"><span id=".E5.BC.95.E7.94.A8"></span>引用</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&section=15" title="编辑章节：引用"><span>编辑</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="reflist columns references-column-count references-column-count-2" style="-moz-column-count: 2; -webkit-column-count: 2; column-count: 2; list-style-type: decimal;"> <ol class="references"> <li id="cite_note-IHSGC2001-1"><span class="mw-cite-backlink">^ <a href="#cite_ref-IHSGC2001_1-0"><sup><b>1.0</b></sup></a> <a href="#cite_ref-IHSGC2001_1-1"><sup><b>1.1</b></sup></a></span> <span class="reference-text"><cite class="citation journal">International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome.. Nature. 2001, <b>409</b> (6822): 860–921. <a class="external mw-magiclink-pmid" rel="nofollow" href="//www.ncbi.nlm.nih.gov/pubmed/11237011?dopt=Abstract">PMID 11237011</a>.</cite><span title="ctx_ver=Z39.88-2004&rfr_id=info%3Asid%2Fzh.wikipedia.org%3A%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&rft.atitle=Initial+sequencing+and+analysis+of+the+human+genome.&rft.au=International+Human+Genome+Sequencing+Consortium&rft.date=2001&rft.genre=article&rft.issue=6822&rft.jtitle=Nature&rft.pages=860-921&rft.volume=409&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal" class="Z3988"><span style="display:none;"> </span></span> <a rel="nofollow" class="external autonumber" href="http://www.nature.com/nature/journal/v409/n6822/full/409860a0.html">[1]</a> （<a rel="nofollow" class="external text" href="//web.archive.org/web/20090803024952/http://www.nature.com/nature/journal/v409/n6822/full/409860a0.html">页面存档备份</a>，存于<a href="/wiki/%E4%BA%92%E8%81%94%E7%BD%91%E6%A1%A3%E6%A1%88%E9%A6%86" title="互联网档案馆">互联网档案馆</a>）</span> </li> <li id="cite_note-LGG-2"><span class="mw-cite-backlink">^ <a href="#cite_ref-LGG_2-0"><sup><b>2.0</b></sup></a> <a href="#cite_ref-LGG_2-1"><sup><b>2.1</b></sup></a> <a href="#cite_ref-LGG_2-2"><sup><b>2.2</b></sup></a></span> <span class="reference-text">大石正道著，林碧清譯：《圖解人類基因組的構造》，世茂出版社，2002年12月。<a href="/wiki/Special:%E7%BD%91%E7%BB%9C%E4%B9%A6%E6%BA%90/9577764320" class="internal mw-magiclink-isbn">ISBN 957-776-432-0</a></span> </li> <li id="cite_note-GEN-3"><span class="mw-cite-backlink"><b><a href="#cite_ref-GEN_3-0">^</a></b></span> <span class="reference-text">Matt Ridley 著，蔡承志、許優優譯：《23對染色體》（<i>Genome</i>），商周出版，2000年。<a href="/wiki/Special:%E7%BD%91%E7%BB%9C%E4%B9%A6%E6%BA%90/9576676789" class="internal mw-magiclink-isbn">ISBN 957-667-678-9</a></span> </li> <li id="cite_note-DGAS-4"><span class="mw-cite-backlink">^ <a href="#cite_ref-DGAS_4-0"><sup><b>4.0</b></sup></a> <a href="#cite_ref-DGAS_4-1"><sup><b>4.1</b></sup></a></span> <span class="reference-text">Daniel Hartl & Elizabath W. Jones. Genetic, 6th ed., Jones and Bartlett Publishers. <a href="/wiki/Special:%E7%BD%91%E7%BB%9C%E4%B9%A6%E6%BA%90/0763715115" class="internal mw-magiclink-isbn">ISBN 0-7637-1511-5</a></span> </li> <li id="cite_note-Watson-5"><span class="mw-cite-backlink"><b><a href="#cite_ref-Watson_5-0">^</a></b></span> <span class="reference-text">Watson, JD, Baker TA, Bell SP, Gann A, Levine M, Losick R. (2004). “Ch9-10”, Molecular Biology of the Gene, 5th ed., Peason Benjamin Cummings; CSHL Press.</span> </li> <li id="cite_note-6"><span class="mw-cite-backlink"><b><a href="#cite_ref-6">^</a></b></span> <span class="reference-text"><cite class="citation journal">Nei M, Xu P, Glazko G. <a rel="nofollow" class="external text" href="http://www.pnas.org/cgi/content/full/051611498">Estimation of divergence times from multiprotein sequences for a few mammalian species and several distantly related organisms.</a>. Proc Natl Acad Sci U S A. 2001, <b>98</b> (5): 2497–502 <span class="reference-accessdate"> [<span class="nowrap">2007-02-02</span>]</span>. <a class="external mw-magiclink-pmid" rel="nofollow" href="//www.ncbi.nlm.nih.gov/pubmed/11226267?dopt=Abstract">PMID 11226267</a>. （原始内容<a rel="nofollow" class="external text" href="https://web.archive.org/web/20080615134346/http://www.pnas.org/cgi/content/full/051611498">存档</a>于2008-06-15）.</cite><span title="ctx_ver=Z39.88-2004&rfr_id=info%3Asid%2Fzh.wikipedia.org%3A%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&rft.atitle=Estimation+of+divergence+times+from+multiprotein+sequences+for+a+few+mammalian+species+and+several+distantly+related+organisms.&rft.au=Nei+M%2C+Xu+P%2C+Glazko+G&rft.date=2001&rft.genre=article&rft.issue=5&rft.jtitle=Proc+Natl+Acad+Sci+U+S+A&rft.pages=2497-502&rft.volume=98&rft_id=http%3A%2F%2Fwww.pnas.org%2Fcgi%2Fcontent%2Ffull%2F051611498&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal" class="Z3988"><span style="display:none;"> </span></span></span> </li> <li id="cite_note-7"><span class="mw-cite-backlink"><b><a href="#cite_ref-7">^</a></b></span> <span class="reference-text"><cite class="citation journal">Loots G, Locksley R, Blankespoor C, Wang Z, Miller W, Rubin E, Frazer K. Identification of a coordinate regulator of interleukins 4, 13, and 5 by cross-species sequence comparisons.. Science. 2000, <b>288</b> (5463): 136–40. <a class="external mw-magiclink-pmid" rel="nofollow" href="//www.ncbi.nlm.nih.gov/pubmed/10753117?dopt=Abstract">PMID 10753117</a>.</cite><span title="ctx_ver=Z39.88-2004&rfr_id=info%3Asid%2Fzh.wikipedia.org%3A%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&rft.atitle=Identification+of+a+coordinate+regulator+of+interleukins+4%2C+13%2C+and+5+by+cross-species+sequence+comparisons.&rft.au=Loots+G%2C+Locksley+R%2C+Blankespoor+C%2C+Wang+Z%2C+Miller+W%2C+Rubin+E%2C+Frazer+K&rft.date=2000&rft.genre=article&rft.issue=5463&rft.jtitle=Science&rft.pages=136-40&rft.volume=288&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal" class="Z3988"><span style="display:none;"> </span></span> <a rel="nofollow" class="external text" href="http://www.lbl.gov/Science-Articles/Archive/mouse-dna-model.html">Summary</a> （<a rel="nofollow" class="external text" href="//web.archive.org/web/20091106091608/http://www.lbl.gov/Science-Articles/Archive/mouse-dna-model.html">页面存档备份</a>，存于<a href="/wiki/%E4%BA%92%E8%81%94%E7%BD%91%E6%A1%A3%E6%A1%88%E9%A6%86" title="互联网档案馆">互联网档案馆</a>）</span> </li> <li id="cite_note-8"><span class="mw-cite-backlink"><b><a href="#cite_ref-8">^</a></b></span> <span class="reference-text"><cite class="citation web">Meunier, Monique. <a rel="nofollow" class="external text" href="https://web.archive.org/web/20090122143526/http://www.cns.fr/externe/English/Actualites/Presse/261001_1.html">Genoscope and Whitehead announce a high sequence coverage of the Tetraodon nigroviridis genome</a>. 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Fewer genes, more noncoding RNA.. Science. 2005, <b>309</b> (5740): 1529–30. <a class="external mw-magiclink-pmid" rel="nofollow" href="//www.ncbi.nlm.nih.gov/pubmed/16141064?dopt=Abstract">PMID 16141064</a>.</cite><span title="ctx_ver=Z39.88-2004&rfr_id=info%3Asid%2Fzh.wikipedia.org%3A%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&rft.atitle=Fewer+genes%2C+more+noncoding+RNA.&rft.au=Claverie+J&rft.date=2005&rft.genre=article&rft.issue=5740&rft.jtitle=Science&rft.pages=1529-30&rft.volume=309&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal" class="Z3988"><span style="display:none;"> </span></span></span> </li> <li id="cite_note-Mouse2004-11"><span class="mw-cite-backlink"><b><a href="#cite_ref-Mouse2004_11-0">^</a></b></span> <span class="reference-text">"<cite>...the proportion of small (50-100 bp) segments in the mammalian genome that is under (purifying) selection can be estimated to be about 5%. 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Genome sequence, comparative analysis and haplotype structure of the domestic dog.. Nature. 2005, <b>438</b> (7069): 803–19. <a rel="nofollow" class="external text" href="//www.ncbi.nlm.nih.gov/pubmed/16341006"><span title="公共医学识别码">PMID 16341006</span></a>.</cite><span title="ctx_ver=Z39.88-2004&rfr_id=info%3Asid%2Fzh.wikipedia.org%3A%E4%BA%BA%E9%A1%9E%E5%9F%BA%E5%9B%A0%E7%B5%84&rft.atitle=Genome+sequence%2C+comparative+analysis+and+haplotype+structure+of+the+domestic+dog.&rft.au=Lindblad-Toh+K&rft.date=2005&rft.genre=article&rft.issue=7069&rft.jtitle=Nature&rft.pages=803-19&rft.volume=438&rft_id=info%3Apmid%2F16341006&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal" class="Z3988"><span style="display:none;"> </span></span><span class="citation-comment" style="display:none; color:#33aa33"> 引文格式1维护：显式使用等标签 (<a href="/wiki/Category:%E5%BC%95%E6%96%87%E6%A0%BC%E5%BC%8F1%E7%BB%B4%E6%8A%A4%EF%BC%9A%E6%98%BE%E5%BC%8F%E4%BD%BF%E7%94%A8%E7%AD%89%E6%A0%87%E7%AD%BE" title="Category:引文格式1维护：显式使用等标签">link</a>)</span></li></ul> <div class="mw-heading mw-heading2"><h2 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bold;" title="英語">（英文）</span><a rel="nofollow" class="external text" href="http://www.ncbi.nlm.nih.gov/mapview/map_search.cgi?taxid=9606">National Library of Medicine human genome viewer </a> （<a rel="nofollow" class="external text" href="//web.archive.org/web/20100309072155/http://www.ncbi.nlm.nih.gov/mapview/map_search.cgi?taxid=9606">页面存档备份</a>，存于<a href="/wiki/%E4%BA%92%E8%81%94%E7%BD%91%E6%A1%A3%E6%A1%88%E9%A6%86" title="互联网档案馆">互联网档案馆</a>）.</li> <li><span style="font-family: sans-serif; cursor: default; color:var(--color-subtle, #54595d); font-size: 0.8em; bottom: 0.1em; font-weight: bold;" title="英語">（英文）</span><a rel="nofollow" class="external text" href="http://genome.ucsc.edu/">UCSC Genome Browser</a>（<a rel="nofollow" class="external text" href="//web.archive.org/web/20180127045600/http://genome.ucsc.edu/">页面存档备份</a>，存于<a href="/wiki/%E4%BA%92%E8%81%94%E7%BD%91%E6%A1%A3%E6%A1%88%E9%A6%86" title="互联网档案馆">互联网档案馆</a>）.</li> <li><span style="font-family: sans-serif; cursor: default; color:var(--color-subtle, #54595d); font-size: 0.8em; bottom: 0.1em; font-weight: bold;" title="英語">（英文）</span><a rel="nofollow" class="external text" href="https://web.archive.org/web/20130102065343/http://www.ornl.gov/sci/techresources/Human_Genome/project/info.shtml">Human Genome Project</a>.</li> <li><span style="font-family: sans-serif; cursor: default; color:var(--color-subtle, #54595d); font-size: 0.8em; bottom: 0.1em; font-weight: bold;" title="英語">（英文）</span><a rel="nofollow" class="external text" href="https://www.cdc.gov/genomics/default.htm">The National Office of Public Health Genomics</a> （<a rel="nofollow" class="external text" href="//web.archive.org/web/20091103212432/http://www.cdc.gov/genomics/default.htm">页面存档备份</a>，存于<a href="/wiki/%E4%BA%92%E8%81%94%E7%BD%91%E6%A1%A3%E6%A1%88%E9%A6%86" title="互联网档案馆">互联网档案馆</a>）</li></ul> <div class="mw-heading mw-heading2"><h2 id="參見"><span id=".E5.8F.83.E8.A6.8B"></span>參見</h2><span class="mw-editsection"><span 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font-weight:bold;"> ·</span> <a href="/w/index.php?title=%E9%BB%B4%E6%BC%BF%E8%8F%8C%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&redlink=1" class="new" title="黴漿菌基因組（页面不存在）">黴漿菌</a></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/%E5%B7%B2%E6%B5%8B%E5%BA%8F%E5%8F%A4%E8%8F%8C%E5%9F%BA%E5%9B%A0%E7%BB%84%E5%88%97%E8%A1%A8" title="已测序古菌基因组列表">古菌</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0px"><div style="padding:0em 0.25em"><a href="/w/index.php?title=Acidilobus_saccharovorans&action=edit&redlink=1" class="new" title="Acidilobus saccharovorans（页面不存在）">Acidilobus saccharovorans</a></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/%E5%B7%B2%E6%B5%8B%E5%BA%8F%E7%9C%9F%E6%A0%B8%E7%94%9F%E7%89%A9%E5%9F%BA%E5%9B%A0%E7%BB%84%E5%88%97%E8%A1%A8" title="已测序真核生物基因组列表">真核生物</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0px"><div style="padding:0em 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/%E5%B7%B2%E6%B5%8B%E5%BA%8F%E5%8A%A8%E7%89%A9%E5%9F%BA%E5%9B%A0%E7%BB%84%E5%88%97%E8%A1%A8" title="已测序动物基因组列表">動物</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0px"><div style="padding:0em 0.25em"><a href="/wiki/%E7%A7%80%E9%BA%97%E9%9A%B1%E6%A1%BF%E7%B7%9A%E8%9F%B2#基因组学" title="秀麗隱桿線蟲">秀麗隱桿線蟲</a><span style="white-space:nowrap; font-weight:bold;"> ·</span> <a href="/wiki/%E9%BB%91%E8%85%B9%E6%9E%9C%E8%A0%85" class="mw-redirect" title="黑腹果蠅">黑腹果蠅</a><span style="white-space:nowrap; font-weight:bold;"> ·</span> <a class="mw-selflink selflink">人類</a><span style="white-space:nowrap; font-weight:bold;"> ·</span> <a href="/w/index.php?title=%E8%80%81%E9%BC%A0%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&redlink=1" class="new" title="老鼠基因組（页面不存在）">老鼠</a><span style="white-space:nowrap; font-weight:bold;"> ·</span> <a href="/w/index.php?title=%E5%A4%A7%E9%BC%A0%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&redlink=1" class="new" title="大鼠基因組（页面不存在）">大鼠</a><span style="white-space:nowrap; font-weight:bold;"> ·</span> <a href="/wiki/%E9%BB%91%E7%8C%A9%E7%8C%A9%E5%9F%BA%E5%9B%A0%E7%BB%84" class="mw-redirect" title="黑猩猩基因组">黑猩猩</a><span style="white-space:nowrap; font-weight:bold;"> ·</span> <a href="/w/index.php?title=%E6%B5%B7%E9%9E%98%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&redlink=1" class="new" title="海鞘基因組（页面不存在）">海鞘</a><span style="white-space:nowrap; font-weight:bold;"> ·</span> <a href="/w/index.php?title=%E7%8B%97%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&redlink=1" class="new" title="狗基因組（页面不存在）">狗</a><span style="white-space:nowrap; font-weight:bold;"> ·</span> <a href="/wiki/%E5%9F%83%E5%8F%8A%E8%A1%80%E5%90%B8%E8%9F%B2" title="埃及血吸蟲">埃及血吸虫</a></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/%E5%B7%B2%E6%B5%8B%E5%BA%8F%E6%A4%8D%E7%89%A9%E5%9F%BA%E5%9B%A0%E7%BB%84%E5%88%97%E8%A1%A8" title="已测序植物基因组列表">植物</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0px"><div style="padding:0em 0.25em"><a href="/w/index.php?title=%E6%8B%9F%E5%8D%97%E8%8A%A5%E5%9F%BA%E5%9B%A0%E7%B5%84&action=edit&redlink=1" class="new" title="拟南芥基因組（页面不存在）">拟南芥</a><span style="white-space:nowrap; font-weight:bold;"> ·</span> <a href="/wiki/%E6%B0%B4%E7%A8%BB%E5%9F%BA%E5%9B%A0%E7%B5%84" title="水稻基因組">水稻</a><span style="white-space:nowrap; font-weight:bold;"> ·</span> <a href="/wiki/%E8%8B%B9%E6%9E%9C" title="苹果">苹果</a> <span style="white-space:nowrap; font-weight:bold;"> ·</span> <a href="/wiki/%E8%8D%89%E8%8E%93" title="草莓">草莓</a> <span style="white-space:nowrap; font-weight:bold;"> ·</span> <a href="/wiki/%E6%9C%A8%E8%B1%86" title="木豆">木豆</a> <span style="white-space:nowrap; font-weight:bold;"> ·</span> <a href="/wiki/%E8%8B%9C%E8%93%BF" class="mw-redirect" title="苜蓿">苜蓿</a> <span style="white-space:nowrap; font-weight:bold;"> ·</span> <a href="/wiki/%E6%9C%A8%E7%93%9C_(%E8%94%B7%E8%96%87%E7%A7%91)" title="木瓜 (蔷薇科)">木瓜</a><span style="white-space:nowrap; font-weight:bold;"> ·</span> <a href="/wiki/%E8%91%A1%E8%90%84" title="葡萄">葡萄</a><span style="white-space:nowrap; font-weight:bold;"> ·</span> <a href="/wiki/%E7%9B%90%E8%8A%A5" title="盐芥">盐芥</a><span style="white-space:nowrap; font-weight:bold;"> ·</span> <a href="/wiki/%E6%AF%9B%E7%AB%B9" class="mw-redirect" title="毛竹">毛竹</a> <span style="white-space:nowrap; font-weight:bold;"> ·</span> <a href="/wiki/%E6%A2%A8" title="梨">梨</a></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/w/index.php?title=%E5%B7%B2%E6%B5%8B%E5%BA%8F%E7%9C%9F%E8%8F%8C%E5%9F%BA%E5%9B%A0%E7%BB%84%E5%88%97%E8%A1%A8&action=edit&redlink=1" class="new" title="已测序真菌基因组列表（页面不存在）">真菌</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0px"><div style="padding:0em 0.25em"><a href="/wiki/%E9%87%80%E9%85%92%E9%85%B5%E6%AF%8D#基因組" title="釀酒酵母">釀酒酵母</a><span style="white-space:nowrap; font-weight:bold;"> ·</span> <a href="/wiki/%E7%81%B5%E8%8A%9D" title="灵芝">灵芝</a></div></td></tr></tbody></table><div></div></td></tr><tr><td class="navbox-abovebelow" colspan="3"><div><a rel="nofollow" class="external autonumber" href="http://www.nature.com/ncomms/journal/v3/n6/full/ncomms1923.html">[2]</a></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r84265675"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r84261037"></div><div role="navigation" class="navbox" aria-labelledby="人类基因组" style="padding:3px"><table class="nowraplinks hlist mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="collapsible-title navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r84265675"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r84244141"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:%E4%BA%BA%E7%B1%BB%E5%9F%BA%E5%9B%A0%E7%BB%84" title="Template:人类基因组"><abbr title="查看该模板">查</abbr></a></li><li class="nv-talk"><a href="/w/index.php?title=Template_talk:%E4%BA%BA%E7%B1%BB%E5%9F%BA%E5%9B%A0%E7%BB%84&action=edit&redlink=1" class="new" title="Template talk:人类基因组（页面不存在）"><abbr title="讨论该模板">论</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:%E7%BC%96%E8%BE%91%E9%A1%B5%E9%9D%A2/Template:%E4%BA%BA%E7%B1%BB%E5%9F%BA%E5%9B%A0%E7%BB%84" title="Special:编辑页面/Template:人类基因组"><abbr title="编辑该模板">编</abbr></a></li></ul></div><div id="人类基因组" style="font-size:110%;margin:0 5em"><a href="/wiki/%E4%BA%BA%E7%B1%BB" class="mw-redirect" title="人类">人类</a><a class="mw-selflink selflink">基因组</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/w/index.php?title=%E7%BB%86%E8%83%9E%E6%A0%B8%E5%9F%BA%E5%9B%A0&action=edit&redlink=1" class="new" title="细胞核基因（页面不存在）">细胞核基因</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0px"><div style="padding:0em 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93" title="常染色体">常染色体</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0px"><div style="padding:0em 0.25em"><span class="nowrap"><a href="/wiki/1%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94" title="1號染色體">1</a> ·</span> <span class="nowrap"><a href="/wiki/2%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94" title="2號染色體">2</a> ·</span> <span class="nowrap"><a href="/wiki/3%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94" title="3號染色體">3</a> ·</span> <span class="nowrap"><a href="/wiki/4%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94" title="4號染色體">4</a> ·</span> <span class="nowrap"><a href="/wiki/5%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94" title="5號染色體">5</a> ·</span> <span class="nowrap"><a href="/wiki/6%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94" title="6號染色體">6</a> ·</span> <span class="nowrap"><a href="/wiki/7%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94" title="7號染色體">7</a> ·</span> <span class="nowrap"><a href="/wiki/8%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94" title="8號染色體">8</a> ·</span> <span class="nowrap"><a href="/wiki/9%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94" title="9號染色體">9</a> ·</span> <span class="nowrap"><a href="/wiki/10%E5%8F%B7%E6%9F%93%E8%89%B2%E4%BD%93" title="10号染色体">10</a> ·</span> <span class="nowrap"><a href="/wiki/11%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94" title="11號染色體">11</a> ·</span> <span class="nowrap"><a href="/wiki/12%E5%8F%B7%E6%9F%93%E8%89%B2%E4%BD%93" title="12号染色体">12</a> ·</span> <span class="nowrap"><a href="/wiki/13%E5%8F%B7%E6%9F%93%E8%89%B2%E4%BD%93" title="13号染色体">13</a> ·</span> <span class="nowrap"><a href="/wiki/14%E5%8F%B7%E6%9F%93%E8%89%B2%E4%BD%93" title="14号染色体">14</a> ·</span> <span class="nowrap"><a href="/wiki/15%E5%8F%B7%E6%9F%93%E8%89%B2%E4%BD%93" title="15号染色体">15</a> ·</span> <span class="nowrap"><a href="/wiki/16%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94" title="16號染色體">16</a> ·</span> <span class="nowrap"><a href="/wiki/17%E5%8F%B7%E6%9F%93%E8%89%B2%E4%BD%93" title="17号染色体">17</a> ·</span> <span class="nowrap"><a href="/wiki/18%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94" title="18號染色體">18</a> ·</span> <span class="nowrap"><a href="/wiki/19%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94" title="19號染色體">19</a> ·</span> <span class="nowrap"><a href="/wiki/20%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94" title="20號染色體">20</a> ·</span> <span class="nowrap"><a href="/wiki/21%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94" title="21號染色體">21</a> ·</span> <span class="nowrap"><a href="/wiki/22%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94" title="22號染色體">22</a></span></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/%E6%80%A7%E6%9F%93%E8%89%B2%E9%AB%94" title="性染色體">性染色體</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0px"><div style="padding:0em 0.25em"><span class="nowrap"><a href="/wiki/X%E6%9F%93%E8%89%B2%E9%AB%94" title="X染色體">X</a> ·</span> <span class="nowrap"><a href="/wiki/Y%E6%9F%93%E8%89%B2%E9%AB%94" title="Y染色體">Y</a> ·</span> <span class="nowrap"><a href="/wiki/%E5%81%BD%E9%AB%94%E6%9F%93%E8%89%B2%E9%AB%94%E5%8D%80" title="偽體染色體區">偽體染色體區</a></span></div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/%E7%BA%BF%E7%B2%92%E4%BD%93DNA" title="线粒体DNA">线粒体DNA</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0px"><div style="padding:0em 0.25em"><span class="ilh-all" data-orig-title="人类线粒体遗传学" data-lang-code="en" data-lang-name="英语" data-foreign-title="Human mitochondrial genetics"><span class="ilh-page"><a href="/w/index.php?title=%E4%BA%BA%E7%B1%BB%E7%BA%BF%E7%B2%92%E4%BD%93%E9%81%97%E4%BC%A0%E5%AD%A6&action=edit&redlink=1" class="new" title="人类线粒体遗传学（页面不存在）">线粒体遗传学</a></span><span class="noprint ilh-comment">（<span class="ilh-lang">英语</span><span class="ilh-colon">：</span><span class="ilh-link"><a href="https://en.wikipedia.org/wiki/Human_mitochondrial_genetics" class="extiw" title="en:Human mitochondrial genetics"><span lang="en" dir="auto">Human mitochondrial genetics</span></a></span>）</span></span></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">有关</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0px"><div style="padding:0em 0.25em"> <ul><li><a class="mw-selflink selflink">人类基因组</a> <ul><li><a href="/wiki/%E4%BA%BA%E7%B1%BB%E5%9F%BA%E5%9B%A0%E7%BB%84%E8%AE%A1%E5%88%92" title="人类基因组计划">人类基因组计划</a></li></ul></li> <li><span class="ilh-all" data-orig-title="人类基因列表" data-lang-code="en" data-lang-name="英语" data-foreign-title="Lists of human genes"><span class="ilh-page"><a href="/w/index.php?title=%E4%BA%BA%E7%B1%BB%E5%9F%BA%E5%9B%A0%E5%88%97%E8%A1%A8&action=edit&redlink=1" class="new" title="人类基因列表（页面不存在）">人类基因列表</a></span><span class="noprint ilh-comment">（<span class="ilh-lang">英语</span><span class="ilh-colon">：</span><span class="ilh-link"><a href="https://en.wikipedia.org/wiki/Lists_of_human_genes" class="extiw" title="en:Lists of human genes"><span lang="en" dir="auto">Lists of human genes</span></a></span>）</span></span></li></ul> </div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r84265675"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r84261037"><style data-mw-deduplicate="TemplateStyles:r79005747">.mw-parser-output .tooltip-dotted{border-bottom:1px dotted;cursor:help}</style></div><div 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