High Expression Levels and Amplification of rRNA Genes in a Mentally Retarded Child with 13p+: A Familial Case Study

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Amplification of rRNA Genes in a Mentally Retarded Child with 13p+: A Familial Case Study</title> <meta name="description" content="High Expression Levels and Amplification of rRNA Genes in a Mentally Retarded Child with 13p+: A Familial Case Study"> <meta name="keywords" content="mental retardation, ribosomal DNA鈥搑DNA, ribosomal RNA鈥搑RNA, nucleolus organizer region鈥揘OR, chromosome 13"> <meta name="viewport" content="width=device-width, initial-scale=1, minimum-scale=1, maximum-scale=1, user-scalable=no"> <meta charset="utf-8"> <link href="https://cdn.waset.org/favicon.ico" type="image/x-icon" rel="shortcut icon"> <link href="https://cdn.waset.org/static/plugins/bootstrap-4.2.1/css/bootstrap.min.css" rel="stylesheet"> <link href="https://cdn.waset.org/static/plugins/fontawesome/css/all.min.css" rel="stylesheet"> <link href="https://cdn.waset.org/static/css/site.css?v=150220211555" rel="stylesheet"> </head> <body> <header> <div class="container"> <nav class="navbar navbar-expand-lg 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class="card-body"><strong>Paper Count:</strong> 87409</div> </div> </div> </div> <div class="card publication-listing mt-3 mb-3"> <h5 class="card-header" style="font-size:.9rem">High Expression Levels and Amplification of rRNA Genes in a Mentally Retarded Child with 13p+: A Familial Case Study</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Irina%20S.%20Kolesnikova">Irina S. Kolesnikova</a>, <a href="https://publications.waset.org/abstracts/search?q=Alexander%20A.%20Dolskiy"> Alexander A. Dolskiy</a>, <a href="https://publications.waset.org/abstracts/search?q=Natalya%20A.%20Lemskaya"> Natalya A. Lemskaya</a>, <a href="https://publications.waset.org/abstracts/search?q=Yulia%20V.%20Maksimova"> Yulia V. Maksimova</a>, <a href="https://publications.waset.org/abstracts/search?q=Asia%20R.%20Shorina"> Asia R. Shorina</a>, <a href="https://publications.waset.org/abstracts/search?q=Alena%20S.%20Telepova"> Alena S. Telepova</a>, <a href="https://publications.waset.org/abstracts/search?q=Alexander%20S.%20Graphodatsky"> Alexander S. Graphodatsky</a>, <a href="https://publications.waset.org/abstracts/search?q=Dmitry%20V.%20Yudkin"> Dmitry V. Yudkin</a> </p> <p class="card-text"><strong>Abstract:</strong></p> A cytogenetic and molecular genetic study of the family with a male child who had mental retardation and autistic features revealed an abnormal chromosome 13 bearing an enlarged p-arm with amplified ribosomal DNA (rDNA) in a boy and his father. Cytogenetic analysis using standard G-banding and FISH with labeled rDNA probes revealed an abnormal chromosome 13 with an enlarged p-arms due to rDNA amplification in a male child, who had clinically confirmed mental retardation and an autistic behavior. This chromosome is evidently inherited from the father, who has morphologically the same chromosome, but is healthy. The karyotype of the mother was normal. Ag-NOR staining showed brightly stained large whole-p-arm nucleolus organizer regions (NORs) in a child and normal-sized NORs in his father with 13p+-NOR-amount mosaicism. qRT-PCR with specific primers showed highly increased levels of 18S, 28S and 5,8 S ribosomal RNA (rRNA) in the patient鈥檚 blood samples compared to a normal healthy control donor. Both patient鈥檚 father and mother had no elevated levels of rRNAs expression. Thus, in this case, rRNA level seems to correlate with mental retardation in familial individuals with 13p+. Our findings of rRNA overexpression in a patient with mental retardation and his parents may show a possible link between the karyotype (p-arm enlargement due to rDNA amplification), rDNA functionality (rRNA overexpression), functional changes in the brain and mental retardation. The study is supported by Russian Science Foundation Grant 15-15-10001. <iframe src="https://publications.waset.org/abstracts/60315.pdf" style="width:100%; height:400px;" frameborder="0"></iframe> <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=mental%20retardation" title="mental retardation">mental retardation</a>, <a href="https://publications.waset.org/abstracts/search?q=ribosomal%20DNA%E2%80%93rDNA" title=" ribosomal DNA鈥搑DNA"> ribosomal DNA鈥搑DNA</a>, <a href="https://publications.waset.org/abstracts/search?q=ribosomal%20RNA%E2%80%93rRNA" title=" ribosomal RNA鈥搑RNA"> ribosomal RNA鈥搑RNA</a>, <a href="https://publications.waset.org/abstracts/search?q=nucleolus%20organizer%20region%E2%80%93NOR" title=" nucleolus organizer region鈥揘OR"> nucleolus organizer region鈥揘OR</a>, <a href="https://publications.waset.org/abstracts/search?q=chromosome%2013" title=" chromosome 13"> chromosome 13</a> </p> <a href="https://publications.waset.org/abstracts/60315/high-expression-levels-and-amplification-of-rrna-genes-in-a-mentally-retarded-child-with-13p-a-familial-case-study" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/60315.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">263</span> </span> </div> </div> </div> </main> <footer> <div id="infolinks" class="pt-3 pb-2"> <div class="container"> <div style="background-color:#f5f5f5;" class="p-3"> <div class="row"> <div class="col-md-2"> <ul class="list-unstyled"> About <li><a href="https://waset.org/page/support">About Us</a></li> <li><a href="https://waset.org/page/support#legal-information">Legal</a></li> <li><a target="_blank" rel="nofollow" href="https://publications.waset.org/static/files/WASET-16th-foundational-anniversary.pdf">WASET celebrates its 16th foundational 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High Expression Levels and Amplification of rRNA Genes in a Mentally Retarded Child with 13p+: A Familial Case Study