| 书目名称 | Trinucleotide Repeat Protocols | | 编辑 | Yoshinori Kohwi | | 视频video | | | 概述 | Includes supplementary material: | | 丛书名称 | Methods in Molecular Biology | | 图书封面 |  | | 描述 | Trinucleotide repeats are relatively common in the human genome. These simple repeats have received much attention since epoch-making discoveries were made that particular trinucleotide repeats are expanded in the causal genes of human hereditary neurological disorders. For example, the CGG repeat is expanded in fragile X syndrome at the 5‘ untranslated region (UTR) of its causal gene. In myotonic dystrophy, it is the CTG repeat that is expanded at the 3‘ UTR of its causal gene. The CAG repeat was also found expanded in coding regions of the genes responsible for X-linked spinal and bulbar muscular atrophy, Huntington’s disease, spinocerebellar ataxia, and other disorders. On the other hand, expansion of the GAA repeat was identified in the intron of the gene responsible for the Friedreich’s ataxia. For these trinucleotide repeat diseases, the longer the trinucleotide expansion, the earlier the age of onset and the more severe the syndrome. Thus, these findings that showed the intriguing link between a particular trinucleotide expansion and its associated neurological disorders have led to a new field of intensive study. Active research addressing the underlying mechanisms for trin | | 出版日期 | Book 2004 | | 版次 | 1 | | doi | https://doi.org/10.1385/1592598048 | | isbn_softcover | 978-1-61737-446-3 | | isbn_ebook | 978-1-59259-804-5Series ISSN 1064-3745 Series E-ISSN 1940-6029 | | issn_series | 1064-3745 | | copyright | Humana Press 2004 |
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发表于 2025-3-21 16:17:05
