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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">Giriş</div> </a> </li> <li id="toc-Genler" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Genler"> <div class="vector-toc-text"> <span class="vector-toc-numb">1</span> <span>Genler</span> </div> </a> <button aria-controls="toc-Genler-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>Genler alt bölümünü aç/kapa</span> </button> <ul id="toc-Genler-sublist" class="vector-toc-list"> <li id="toc-Genlerin_modifikasyonu" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Genlerin_modifikasyonu"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.1</span> <span>Genlerin modifikasyonu</span> </div> </a> <ul id="toc-Genlerin_modifikasyonu-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Gen_mutasyonları" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Gen_mutasyonları"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.2</span> <span>Gen mutasyonları</span> </div> </a> <ul id="toc-Gen_mutasyonları-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Kalıtımda_Genetik_İşleyiş" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Kalıtımda_Genetik_İşleyiş"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.3</span> <span>Kalıtımda Genetik İşleyiş</span> </div> </a> <ul id="toc-Kalıtımda_Genetik_İşleyiş-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Kromozomlar" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Kromozomlar"> <div class="vector-toc-text"> <span class="vector-toc-numb">2</span> <span>Kromozomlar</span> </div> </a> <ul id="toc-Kromozomlar-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Kaynakça" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Kaynakça"> <div class="vector-toc-text"> <span class="vector-toc-numb">3</span> <span>Kaynakça</span> </div> </a> <ul id="toc-Kaynakça-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="İçindekiler" class="vector-toc-landmark"> <div id="vector-page-titlebar-toc" class="vector-dropdown vector-page-titlebar-toc vector-button-flush-left" title="İçindekiler" > <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="İçindekiler tablosunu değiştir" > <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">İçindekiler tablosunu değiştir</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">Genetik hastalıkların kökeni</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="Başka bir dildeki sayfaya gidin. 18 dilde mevcut" > <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-18" 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">18 dil</span> </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-az mw-list-item"><a href="https://az.wikipedia.org/wiki/%C4%B0rsi_x%C9%99st%C9%99likl%C9%99r" title="İrsi xəstəliklər - Azerbaycan dili" lang="az" hreflang="az" data-title="İrsi xəstəliklər" data-language-autonym="Azərbaycanca" data-language-local-name="Azerbaycan dili" class="interlanguage-link-target"><span>Azərbaycanca</span></a></li><li class="interlanguage-link interwiki-be mw-list-item"><a href="https://be.wikipedia.org/wiki/%D0%A1%D0%BF%D0%B0%D0%B4%D1%87%D1%8B%D0%BD%D0%BD%D1%8B%D1%8F_%D1%85%D0%B2%D0%B0%D1%80%D0%BE%D0%B1%D1%8B" title="Спадчынныя хваробы - Belarusça" lang="be" hreflang="be" data-title="Спадчынныя хваробы" data-language-autonym="Беларуская" data-language-local-name="Belarusça" class="interlanguage-link-target"><span>Беларуская</span></a></li><li class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/Nasljedna_bolest" title="Nasljedna bolest - Boşnakça" lang="bs" hreflang="bs" data-title="Nasljedna bolest" data-language-autonym="Bosanski" data-language-local-name="Boşnakça" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-en badge-Q70893996 mw-list-item" title=""><a href="https://en.wikipedia.org/wiki/Hereditary_disorder" title="Hereditary disorder - İngilizce" lang="en" hreflang="en" data-title="Hereditary disorder" data-language-autonym="English" data-language-local-name="İngilizce" class="interlanguage-link-target"><span>English</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Enfermedad_hereditaria" title="Enfermedad hereditaria - İspanyolca" lang="es" hreflang="es" data-title="Enfermedad hereditaria" data-language-autonym="Español" data-language-local-name="İspanyolca" 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/P%C3%A4rilikud_haigused" title="Pärilikud haigused - Estonca" lang="et" hreflang="et" data-title="Pärilikud haigused" data-language-autonym="Eesti" data-language-local-name="Estonca" class="interlanguage-link-target"><span>Eesti</span></a></li><li class="interlanguage-link interwiki-hy mw-list-item"><a href="https://hy.wikipedia.org/wiki/%D4%BA%D5%A1%D5%BC%D5%A1%D5%B6%D5%A3%D5%A1%D5%AF%D5%A1%D5%B6_%D5%B0%D5%AB%D5%BE%D5%A1%D5%B6%D5%A4%D5%B8%D6%82%D5%A9%D5%B5%D5%B8%D6%82%D5%B6%D5%B6%D5%A5%D6%80" title="Ժառանգական հիվանդություններ - Ermenice" lang="hy" hreflang="hy" data-title="Ժառանգական հիվանդություններ" data-language-autonym="Հայերեն" data-language-local-name="Ermenice" class="interlanguage-link-target"><span>Հայերեն</span></a></li><li class="interlanguage-link interwiki-kk mw-list-item"><a href="https://kk.wikipedia.org/wiki/%D0%A2%D2%B1%D2%9B%D1%8B%D0%BC_%D2%9B%D1%83%D0%B0%D0%BB%D0%B0%D0%B9%D1%82%D1%8B%D0%BD_%D0%B0%D1%83%D1%80%D1%83%D0%BB%D0%B0%D1%80" title="Тұқым қуалайтын аурулар - Kazakça" lang="kk" hreflang="kk" data-title="Тұқым қуалайтын аурулар" data-language-autonym="Қазақша" data-language-local-name="Kazakça" class="interlanguage-link-target"><span>Қазақша</span></a></li><li class="interlanguage-link interwiki-ky mw-list-item"><a href="https://ky.wikipedia.org/wiki/%D0%A2%D1%83%D0%BA%D1%83%D0%BC_%D0%BA%D1%83%D1%83%D0%BC%D0%B0_%D0%BE%D0%BE%D1%80%D1%83%D0%BB%D0%B0%D1%80" title="Тукум куума оорулар - Kırgızca" lang="ky" hreflang="ky" data-title="Тукум куума оорулар" data-language-autonym="Кыргызча" data-language-local-name="Kırgızca" class="interlanguage-link-target"><span>Кыргызча</span></a></li><li class="interlanguage-link interwiki-pt mw-list-item"><a href="https://pt.wikipedia.org/wiki/Doen%C3%A7a_heredit%C3%A1ria" title="Doença hereditária - Portekizce" lang="pt" hreflang="pt" data-title="Doença hereditária" data-language-autonym="Português" data-language-local-name="Portekizce" class="interlanguage-link-target"><span>Português</span></a></li><li class="interlanguage-link interwiki-ru mw-list-item"><a href="https://ru.wikipedia.org/wiki/%D0%9D%D0%B0%D1%81%D0%BB%D0%B5%D0%B4%D1%81%D1%82%D0%B2%D0%B5%D0%BD%D0%BD%D1%8B%D0%B5_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F" title="Наследственные заболевания - Rusça" lang="ru" hreflang="ru" data-title="Наследственные заболевания" data-language-autonym="Русский" data-language-local-name="Rusça" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-sh mw-list-item"><a href="https://sh.wikipedia.org/wiki/Nasledna_bolest" title="Nasledna bolest - Sırp-Hırvat Dili" lang="sh" hreflang="sh" data-title="Nasledna bolest" data-language-autonym="Srpskohrvatski / српскохрватски" data-language-local-name="Sırp-Hırvat Dili" class="interlanguage-link-target"><span>Srpskohrvatski / српскохрватски</span></a></li><li class="interlanguage-link interwiki-sr mw-list-item"><a href="https://sr.wikipedia.org/wiki/%D0%9D%D0%B0%D1%81%D0%BB%D0%B5%D0%B4%D0%BD%D0%B0_%D0%B1%D0%BE%D0%BB%D0%B5%D1%81%D1%82" title="Наследна болест - Sırpça" lang="sr" hreflang="sr" data-title="Наследна болест" data-language-autonym="Српски / srpski" data-language-local-name="Sırpça" class="interlanguage-link-target"><span>Српски / srpski</span></a></li><li class="interlanguage-link interwiki-ta badge-Q70893996 mw-list-item" title=""><a href="https://ta.wikipedia.org/wiki/%E0%AE%AE%E0%AE%B0%E0%AE%AA%E0%AE%A3%E0%AF%81_%E0%AE%A8%E0%AF%8B%E0%AE%AF%E0%AF%8D" title="மரபணு நோய் - Tamilce" lang="ta" hreflang="ta" data-title="மரபணு நோய்" data-language-autonym="தமிழ்" data-language-local-name="Tamilce" class="interlanguage-link-target"><span>தமிழ்</span></a></li><li class="interlanguage-link interwiki-tg mw-list-item"><a href="https://tg.wikipedia.org/wiki/%D0%91%D0%B5%D0%BC%D0%BE%D1%80%D0%B8%D2%B3%D0%BE%D0%B8_%D0%B8%D1%80%D1%81%D3%A3" title="Бемориҳои ирсӣ - Tacikçe" lang="tg" hreflang="tg" data-title="Бемориҳои ирсӣ" data-language-autonym="Тоҷикӣ" data-language-local-name="Tacikçe" class="interlanguage-link-target"><span>Тоҷикӣ</span></a></li><li class="interlanguage-link interwiki-tt mw-list-item"><a href="https://tt.wikipedia.org/wiki/%D0%9D%D3%99%D1%81%D0%B5%D0%BB%D0%B4%D3%99%D0%BD_%D0%BA%D0%B8%D0%BB%D0%B3%D3%99%D0%BD_%D1%87%D0%B8%D1%80%D0%BB%D3%99%D1%80" title="Нәселдән килгән чирләр - Tatarca" lang="tt" hreflang="tt" data-title="Нәселдән килгән чирләр" data-language-autonym="Татарча / tatarça" data-language-local-name="Tatarca" class="interlanguage-link-target"><span>Татарча / tatarça</span></a></li><li class="interlanguage-link interwiki-uk mw-list-item"><a href="https://uk.wikipedia.org/wiki/%D0%A1%D0%BF%D0%B0%D0%B4%D0%BA%D0%BE%D0%B2%D1%96_%D0%B7%D0%B0%D1%85%D0%B2%D0%BE%D1%80%D1%8E%D0%B2%D0%B0%D0%BD%D0%BD%D1%8F" title="Спадкові захворювання - Ukraynaca" lang="uk" hreflang="uk" data-title="Спадкові захворювання" data-language-autonym="Українська" data-language-local-name="Ukraynaca" class="interlanguage-link-target"><span>Українська</span></a></li><li class="interlanguage-link interwiki-uz mw-list-item"><a href="https://uz.wikipedia.org/wiki/Irsiy_kasalliklar" title="Irsiy kasalliklar - Özbekçe" lang="uz" hreflang="uz" data-title="Irsiy kasalliklar" data-language-autonym="Oʻzbekcha / ўзбекча" data-language-local-name="Özbekçe" class="interlanguage-link-target"><span>Oʻzbekcha / ўзбекча</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/Q3311537#sitelinks-wikipedia" title="Dillerarası bağlantıları değiştir" class="wbc-editpage">Bağlantıları değiştir</a></span></div> </div> </div> </div> </header> <div class="vector-page-toolbar"> <div class="vector-page-toolbar-container"> <div id="left-navigation"> <nav aria-label="Ad alanları"> <div id="p-associated-pages" class="vector-menu vector-menu-tabs mw-portlet mw-portlet-associated-pages" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="ca-nstab-main" class="selected vector-tab-noicon mw-list-item"><a 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<div class="vector-body-before-content"> <div class="mw-indicators"> </div> <div id="siteSub" class="noprint">Vikipedi, özgür ansiklopedi</div> </div> <div id="contentSub"><div id="mw-content-subtitle"></div></div> <div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="tr" dir="ltr"><style data-mw-deduplicate="TemplateStyles:r28603389">.mw-parser-output .infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}body.skin-minerva .mw-parser-output .infobox-header,body.skin-minerva .mw-parser-output .infobox-subheader,body.skin-minerva .mw-parser-output .infobox-above,body.skin-minerva .mw-parser-output .infobox-title,body.skin-minerva .mw-parser-output .infobox-image,body.skin-minerva .mw-parser-output .infobox-full-data,body.skin-minerva .mw-parser-output .infobox-below{text-align:center}</style><table class="infobox"><tbody><tr><td colspan="2" class="infobox-full-data"><span typeof="mw:File"><a href="/wiki/Dosya:A_boy_with_Down_syndrome_using_cordless_drill_to_assemble_a_book_case.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/1/11/A_boy_with_Down_syndrome_using_cordless_drill_to_assemble_a_book_case.jpg/300px-A_boy_with_Down_syndrome_using_cordless_drill_to_assemble_a_book_case.jpg" decoding="async" width="300" height="225" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/1/11/A_boy_with_Down_syndrome_using_cordless_drill_to_assemble_a_book_case.jpg 1.5x" data-file-width="320" data-file-height="240" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data">En yaygın genetik bozukluklardan biri olan Down sendromlu bir çocuk</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Uzmanl%C4%B1k" title="Uzmanlık">Uzmanlık</a></th><td class="infobox-data">Tıbbi genetik</td></tr></tbody></table><p><b>Genetik hastalıklar (kalıtsal hastalıklar)</b>, bir ailede kuşaktan kuşağa aktarılabilen patolojileri niteleyen tanımlamadır.<sup id="cite_ref-:0_1-0" class="reference"><a href="#cite_note-:0-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:1_2-0" class="reference"><a href="#cite_note-:1-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> Kalıtsal hastalıkların gelecek kuşaklara aktarılmasında etkili olan faktörlerler, genlerdeki ve kromozomlardaki yapısal değişikliklerdir.<sup id="cite_ref-:0_1-1" class="reference"><a href="#cite_note-:0-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:1_2-1" class="reference"><a href="#cite_note-:1-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:2_4-0" class="reference"><a href="#cite_note-:2-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p><meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Genler">Genler</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetik_hastal%C4%B1klar%C4%B1n_k%C3%B6keni&veaction=edit&section=1" title="Değiştirilen bölüm: Genler" class="mw-editsection-visualeditor"><span>değiştir</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Genetik_hastal%C4%B1klar%C4%B1n_k%C3%B6keni&action=edit&section=1" title="Bölümün kaynak kodunu değiştir: Genler"><span>kaynağı değiştir</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-heading mw-heading3"><h3 id="Genlerin_modifikasyonu">Genlerin modifikasyonu</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetik_hastal%C4%B1klar%C4%B1n_k%C3%B6keni&veaction=edit&section=2" title="Değiştirilen bölüm: Genlerin modifikasyonu" class="mw-editsection-visualeditor"><span>değiştir</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Genetik_hastal%C4%B1klar%C4%B1n_k%C3%B6keni&action=edit&section=2" title="Bölümün kaynak kodunu değiştir: Genlerin modifikasyonu"><span>kaynağı değiştir</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><a href="/wiki/Gen" title="Gen">Genlerdeki</a> modifikasyon, <a href="/wiki/Genetik" title="Genetik">kalıtımda</a> çok önemlidir. <a href="/wiki/Konjenital_hastal%C4%B1klar" title="Konjenital hastalıklar">Çevresel faktörler</a> genler üzerinde oldukça etkilidir. Bu etkilerini, <a href="/wiki/Genetik" title="Genetik">genlerde modifikasyon</a> ve <a href="/wiki/Genetik" title="Genetik">gen mutasyonları</a> biçiminde gösterirler. Modifikasyonda genin yapısı değişmez; işleyişi ve çalışma şekli değişir. Modifikasyona neden olan etken ortadan kalktığında modifikasyon da ortadan kalkar. Genetiğe bağlı olan boy, kilo, saç rengi, saç teli kalınlığı ve göz rengi gibi niteliklerin tümü çevre tarafından etkilenebilmektedir (<a href="/wiki/Evrim" title="Evrim">evrim</a>).<sup id="cite_ref-:0_1-2" class="reference"><a href="#cite_note-:0-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:1_2-2" class="reference"><a href="#cite_note-:1-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:2_4-1" class="reference"><a href="#cite_note-:2-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Gen_mutasyonları"><span id="Gen_mutasyonlar.C4.B1"></span>Gen mutasyonları</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetik_hastal%C4%B1klar%C4%B1n_k%C3%B6keni&veaction=edit&section=3" title="Değiştirilen bölüm: Gen mutasyonları" class="mw-editsection-visualeditor"><span>değiştir</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Genetik_hastal%C4%B1klar%C4%B1n_k%C3%B6keni&action=edit&section=3" title="Bölümün kaynak kodunu değiştir: Gen mutasyonları"><span>kaynağı değiştir</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Gen mutasyonları, canlı organizmanın bütünlüğü, morfolojisi ve işlevleri üzerinde irreversibl olumsuz etkileri olan olgulardır. <a href="/wiki/Kanserojen" title="Kanserojen">Karsinojenler</a>, <a href="/wiki/Radyasyon" title="Radyasyon">radyasyon</a>, <a href="/wiki/%C3%87evre_kirlili%C4%9Fi" title="Çevre kirliliği">çevre kirliliği</a>, <a href="/wiki/Vir%C3%BCs" title="Virüs">virüsler</a> gibi çevresel faktörler gen mutasyonlarının önemli nedenleridir. Bir başka neden ise, <a href="/wiki/DNA_ikile%C5%9Fmesi" class="mw-redirect" title="DNA ikileşmesi">DNA replikasyonunda</a> rastlantısal olarak gerçekleşen çarpıklıklardır. Gen mutasyonuyla birlikte esansiyel proteinlerin işlevleri de değişir. Gen mutasyonları edinsel ya da kalıtsaldır. Edinsel mutasyonlarda çevresel faktörler etkindir. Kalıtsal mutasyonlar ise ebeveynlerin bir sonraki kuşağa kromozomları ve DNA'ları ile aktardıkları mutasyonlardır. Gen mutasyonu ile DNA dizilimi bozulur, genin niteliği değişir. Böylece, canlı organizmanın genom yapısı da değişir. Bu tür gen mutasyonlarının ilk aşaması, dişi yumurtasındaki ya da spermdeki DNA'larda oluşan mutasyonlardır; bu gibi olgularda, anne ya da babada genetik hastalıkla ilgili bulgu görülmez. Ailesel ya da kalıtsal hastalık tablosu, gen mutasyonuyla dünyaya gelen bebek ile başlar ve ondan sonraki kuşaklara da aktarılır. Bu aşamadan sonra “kalıtsal bir <a href="/wiki/Sendrom" title="Sendrom">sendrom</a> ya da hastalık” tablosu oluşur. Doğumdan sonraki gen mutasyonlarının çok büyük bir bölümü tümörlerin önemli bir nedenidir.<sup id="cite_ref-:0_1-3" class="reference"><a href="#cite_note-:0-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:1_2-3" class="reference"><a href="#cite_note-:1-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:2_4-2" class="reference"><a href="#cite_note-:2-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Kalıtımda_Genetik_İşleyiş"><span id="Kal.C4.B1t.C4.B1mda_Genetik_.C4.B0.C5.9Fleyi.C5.9F"></span>Kalıtımda Genetik İşleyiş</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetik_hastal%C4%B1klar%C4%B1n_k%C3%B6keni&veaction=edit&section=4" title="Değiştirilen bölüm: Kalıtımda Genetik İşleyiş" class="mw-editsection-visualeditor"><span>değiştir</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Genetik_hastal%C4%B1klar%C4%B1n_k%C3%B6keni&action=edit&section=4" title="Bölümün kaynak kodunu değiştir: Kalıtımda Genetik İşleyiş"><span>kaynağı değiştir</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Kalıtımdaki genetik işleyiş 2 faktörden etkilenir: <a href="/wiki/Kromozom" title="Kromozom">Kromozomlar</a> ve <a href="/wiki/Genetik" title="Genetik">Mutant gen</a> etkinliği. </p> <div class="mw-heading mw-heading2"><h2 id="Kromozomlar">Kromozomlar</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetik_hastal%C4%B1klar%C4%B1n_k%C3%B6keni&veaction=edit&section=5" title="Değiştirilen bölüm: Kromozomlar" class="mw-editsection-visualeditor"><span>değiştir</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Genetik_hastal%C4%B1klar%C4%B1n_k%C3%B6keni&action=edit&section=5" title="Bölümün kaynak kodunu değiştir: Kromozomlar"><span>kaynağı değiştir</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><b>1.</b> Otozom kromozomlar: cinsiyetle ilgisi olmayan kromozomlardır;<sup id="cite_ref-:0_1-4" class="reference"><a href="#cite_note-:0-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:1_2-4" class="reference"><a href="#cite_note-:1-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:2_4-3" class="reference"><a href="#cite_note-:2-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p><p><b>2.</b> Cinsiyet kromozomları (cinsiyeti belirleyen X ve Y kromozomları; otozom olmayan kromozomlar).<sup id="cite_ref-:0_1-5" class="reference"><a href="#cite_note-:0-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:1_2-5" class="reference"><a href="#cite_note-:1-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:2_4-4" class="reference"><a href="#cite_note-:2-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p><p><b>1.Otozom kromozomlardaki mutant genlerin etkinliği</b> </p> <ul><li><i><b>Otozomal dominant (AD):</b></i> Her hastanın ailesinde hasta bir ebeveyn vardır; bu hastalık gelecek kuşaklara da aktarılır. Mutasyona uğrayan gen baskındır (dominant) ve otozom bir kromozom üzerinde bulunurlar. Patolojinin bir sonraki kuşağa aktarılması için bu genin yalnızca bir kopyası yeterlidir. Olguların bir bölümünde izlenen patoloji ebeveynlerden birinden gelir. Kalan bölümünde ise, ailesinde bu tür bir patolojinin olmadığı hastalardaki yeni beliren bir gen mutasyonunun sonucudur.<sup id="cite_ref-:0_1-6" class="reference"><a href="#cite_note-:0-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:1_2-6" class="reference"><a href="#cite_note-:1-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:2_4-5" class="reference"><a href="#cite_note-:2-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup></li> <li><i><b>Otozomal resesif (AR):</b></i> Hastanın ailesinde hem annenin ve hem de babanın (her iki ebeveyn de) hastalık genini taşıması zorunluluğu vardır; bu nedenle, ebeveynlerden birinde hastalık geni yoksa, hastalığın çocuklarına aktarılması olanaksızdır. Mutasyona uğrayan gen (mutant gen) otozom bir kromozom üzerinde bulunan resesif bir gendir.  Otozomal resesif kalıtımlarda, anne ve babadan gelen 2 mutant genin karşılaşması gerekir. Yalnızca annede bulunan ama babada bulunmayan tek mutant gen çocuğa aktarılır ancak patolojinin oluşması için bu tek mutant gen yeterli değildir. Anneden gelen mutant geni taşıyan sağlıklı çocuk, ileride benzer bir mutant geni taşıyan eşinden patolojik belirtileri gösteren çocuk sahibi olur. Bu duruma göre, otozomal resesif kalıtım mutant gen taşıyan 2 taşıyıcı (sağlıklı) ebeveynin varlığında ortaya çıkar. Resesif mutant genlerin bulunduğu ailelerde, <b>akraba evlilkleri</b>nden doğan çocukların büyük bölümü bu sonuçtan etkilenir.<sup id="cite_ref-:0_1-7" class="reference"><a href="#cite_note-:0-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:1_2-7" class="reference"><a href="#cite_note-:1-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:2_4-6" class="reference"><a href="#cite_note-:2-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:3_5-0" class="reference"><a href="#cite_note-:3-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup></li></ul> <p><b>2. Cinsiyet kromozomları aracılığıyla oluşan kalıtsal patolojiler</b> </p> <ul><li><i><b>X-linked kalıtım (XL):</b></i> X kromozomu üzerindeki bir genin mutasyonu sonucunda oluşan kalıtım türüdür. Kadınlarda 2, erkeklerde 1 adet X kromozomu bulunur. X-linked dominant ve X-linked resesif türleri vardır. X-linked dominant kalıtımla gelen patolojiler genellikle kız çocuklarını etkiler. X-linked resesif kalıtımla gelen patolojiler kız çocuklarını genellikle etkilemez (sağlam X kromozomu bu durumu kompanze eder). X-linked mutant geni olan babaların kızları önemli bir taşıyıcıdır. X-linked resesif kalıtımla gelen patolojiler genellikle erkek çocuklarını etkiler.<sup id="cite_ref-:0_1-8" class="reference"><a href="#cite_note-:0-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:1_2-8" class="reference"><a href="#cite_note-:1-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:2_4-7" class="reference"><a href="#cite_note-:2-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:3_5-1" class="reference"><a href="#cite_note-:3-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup></li> <li><i><b>Y-linked kalıtım (YL):</b></i> erkeklerdeki Y kromozomu üzerindeki bir genin mutasyonu sonucunda oluşan kalıtım türüdür. Mutant gen Y kromozomu ile babadan erkek çocuklara geçebilir; kız çocuklarında Y kromozomu olmadığı için etkilenmezler, taşıyıcı olamazlar.<sup id="cite_ref-:0_1-9" class="reference"><a href="#cite_note-:0-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:1_2-9" class="reference"><a href="#cite_note-:1-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:2_4-8" class="reference"><a href="#cite_note-:2-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:3_5-2" class="reference"><a href="#cite_note-:3-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup></li> <li><i><b>Mitokondriyal kalıtım:</b></i> Kalıtsal hastalıklarda etkisi az görülen bir kalıtım türüdür. Kız ve erkek çocukları aynı oranda etkileyebilir. Gelecek kuşaklara kolayca aktarılır.<sup id="cite_ref-:0_1-10" class="reference"><a href="#cite_note-:0-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:1_2-10" class="reference"><a href="#cite_note-:1-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:2_4-9" class="reference"><a href="#cite_note-:2-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:3_5-3" class="reference"><a href="#cite_note-:3-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup></li></ul> <p><br /> </p> <table class="metadata plainlinks stub" role="presentation" style="background:transparent"> <tbody><tr> <td><span typeof="mw:File"><a href="/wiki/Dosya:Chromosome-upright.png" class="mw-file-description"><img alt="Taslak simgesi" src="//upload.wikimedia.org/wikipedia/commons/thumb/7/78/Chromosome-upright.png/21px-Chromosome-upright.png" decoding="async" width="21" height="30" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/7/78/Chromosome-upright.png/31px-Chromosome-upright.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/7/78/Chromosome-upright.png/42px-Chromosome-upright.png 2x" data-file-width="200" data-file-height="287" /></a></span> </td> <td><i>Bir <a href="/wiki/Genetik_hastal%C4%B1k" class="mw-redirect" title="Genetik hastalık">genetik hastalık</a> ile ilgili bu madde <a href="/wiki/Vikipedi:Taslak_madde" title="Vikipedi:Taslak madde">taslak</a> seviyesindedir. Madde içeriğini <a class="external text" href="https://tr.wikipedia.org/w/index.php?title=Genetik_hastal%C4%B1klar%C4%B1n_k%C3%B6keni&action=edit">genişleterek</a> Vikipedi'ye katkı sağlayabilirsiniz.</i> </td></tr></tbody></table> <div class="mw-heading mw-heading2"><h2 id="Kaynakça"><span id="Kaynak.C3.A7a"></span>Kaynakça</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Genetik_hastal%C4%B1klar%C4%B1n_k%C3%B6keni&veaction=edit&section=6" title="Değiştirilen bölüm: Kaynakça" class="mw-editsection-visualeditor"><span>değiştir</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Genetik_hastal%C4%B1klar%C4%B1n_k%C3%B6keni&action=edit&section=6" title="Bölümün kaynak kodunu değiştir: Kaynakça"><span>kaynağı değiştir</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r32805677">.mw-parser-output .reflist{font-size:90%;margin-bottom:0.5em;list-style-type:decimal}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-count:2}.mw-parser-output .reflist-columns-3{column-count:3}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist"> <div class="mw-references-wrap"><ol class="references"> <li id="cite_note-:0-1"><strong>^</strong> <a href="#cite_ref-:0_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-:0_1-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-:0_1-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-:0_1-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-:0_1-4"><sup><i><b>e</b></i></sup></a> <a href="#cite_ref-:0_1-5"><sup><i><b>f</b></i></sup></a> <a href="#cite_ref-:0_1-6"><sup><i><b>g</b></i></sup></a> <a href="#cite_ref-:0_1-7"><sup><i><b>h</b></i></sup></a> <a href="#cite_ref-:0_1-8"><sup><i><b>i</b></i></sup></a> <a href="#cite_ref-:0_1-9"><sup><i><b>j</b></i></sup></a> <a href="#cite_ref-:0_1-10"><sup><i><b>k</b></i></sup></a> <span class="reference-text">Griffiths AJF, Miller JH, Suzuki DT, et al. An Introduction to Genetic Analysis, 7th edition. WH Freeman, New York, 2000</span> </li> <li id="cite_note-:1-2"><strong>^</strong> <a href="#cite_ref-:1_2-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-:1_2-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-:1_2-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-:1_2-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-:1_2-4"><sup><i><b>e</b></i></sup></a> <a href="#cite_ref-:1_2-5"><sup><i><b>f</b></i></sup></a> <a href="#cite_ref-:1_2-6"><sup><i><b>g</b></i></sup></a> <a href="#cite_ref-:1_2-7"><sup><i><b>h</b></i></sup></a> <a href="#cite_ref-:1_2-8"><sup><i><b>i</b></i></sup></a> <a href="#cite_ref-:1_2-9"><sup><i><b>j</b></i></sup></a> <a href="#cite_ref-:1_2-10"><sup><i><b>k</b></i></sup></a> <span class="reference-text">The National Center for Biotechnology Information - Books, <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK132145/">2020</a> 4 Mayıs 2020 tarihinde <a href="/wiki/Wayback_Machine" title="Wayback Machine">Wayback Machine</a> sitesinde <a rel="nofollow" class="external text" href="https://web.archive.org/web/20200504050001/https://www.ncbi.nlm.nih.gov/books/NBK132145/">arşivlendi</a>.</span> </li> <li id="cite_note-3"><strong><a href="#cite_ref-3">^</a></strong> <span class="reference-text">Genome.gov: genetics-glossary, <a rel="nofollow" class="external text" href="https://www.genome.gov/genetics-glossary">2020</a> 29 Nisan 2020 tarihinde <a href="/wiki/Wayback_Machine" title="Wayback Machine">Wayback Machine</a> sitesinde <a rel="nofollow" class="external text" href="https://web.archive.org/web/20200429025415/https://www.genome.gov/genetics-glossary">arşivlendi</a>.</span> </li> <li id="cite_note-:2-4"><strong>^</strong> <a href="#cite_ref-:2_4-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-:2_4-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-:2_4-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-:2_4-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-:2_4-4"><sup><i><b>e</b></i></sup></a> <a href="#cite_ref-:2_4-5"><sup><i><b>f</b></i></sup></a> <a href="#cite_ref-:2_4-6"><sup><i><b>g</b></i></sup></a> <a href="#cite_ref-:2_4-7"><sup><i><b>h</b></i></sup></a> <a href="#cite_ref-:2_4-8"><sup><i><b>i</b></i></sup></a> <a href="#cite_ref-:2_4-9"><sup><i><b>j</b></i></sup></a> <span class="reference-text">Maksillofasiyal Sendromlar - Kalıtım ve <a rel="nofollow" class="external text" href="https://www.maksillofasiyalsendromlar.org/kalitim-genetik">Genetik</a> 6 Şubat 2020 tarihinde <a href="/wiki/Wayback_Machine" title="Wayback Machine">Wayback Machine</a> sitesinde <a rel="nofollow" class="external text" href="https://web.archive.org/web/20200206145118/https://www.maksillofasiyalsendromlar.org/kalitim-genetik">arşivlendi</a>.</span> </li> <li id="cite_note-:3-5"><strong>^</strong> <a href="#cite_ref-:3_5-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-:3_5-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-:3_5-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-:3_5-3"><sup><i><b>d</b></i></sup></a> <span class="reference-text">The National Center for Biotechnology Information - <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK546620/">Books</a></span> </li> </ol></div></div></div><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?useformat=desktop&type=1x1&usesul3=0" alt="" width="1" height="1" style="border: none; position: absolute;"></noscript> <div class="printfooter" data-nosnippet="">"<a dir="ltr" href="https://tr.wikipedia.org/w/index.php?title=Genetik_hastalıkların_kökeni&oldid=33898182">https://tr.wikipedia.org/w/index.php?title=Genetik_hastalıkların_kökeni&oldid=33898182</a>" sayfasından alınmıştır</div></div> <div id="catlinks" class="catlinks" data-mw="interface"><div id="mw-normal-catlinks" class="mw-normal-catlinks"><a href="/wiki/%C3%96zel:Kategoriler" title="Özel:Kategoriler">Kategori</a>: <ul><li><a href="/wiki/Kategori:Genetik_hastal%C4%B1klar" title="Kategori:Genetik hastalıklar">Genetik hastalıklar</a></li><li><a href="/wiki/Kategori:Sendromlar" title="Kategori:Sendromlar">Sendromlar</a></li><li><a href="/wiki/Kategori:Genetik" title="Kategori:Genetik">Genetik</a></li></ul></div><div id="mw-hidden-catlinks" class="mw-hidden-catlinks mw-hidden-cats-hidden">Gizli kategori: <ul><li><a href="/wiki/Kategori:Webar%C5%9Fiv_%C5%9Fablonu_wayback_ba%C4%9Flant%C4%B1lar%C4%B1" title="Kategori:Webarşiv şablonu wayback bağlantıları">Webarşiv şablonu wayback bağlantıları</a></li></ul></div></div> </div> </main> </div> <div class="mw-footer-container"> <footer id="footer" class="mw-footer" > <ul id="footer-info"> <li id="footer-info-lastmod"> Sayfa en son 20.40, 26 Eylül 2024 tarihinde değiştirildi.</li> <li id="footer-info-copyright">Metin <a rel="nofollow" class="external text" href="//creativecommons.org/licenses/by-sa/4.0/deed.tr">Creative Commons Atıf-AynıLisanslaPaylaş Lisansı</a> altındadır ve ek koşullar uygulanabilir. 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