| 书目名称 | Trinucleotide Diseases and Instability |
| 编辑 | Ben A. Oostra |
| 视频video | |
| 概述 | Describes the common molecular basis of a diverse series of human diseases, and how this knowledge can be used in diagnosis |
| 丛书名称 | Results and Problems in Cell Differentiation |
| 图书封面 |  |
| 描述 | Till recently, mutations in genes were described in textbooks as deletions or point mutations. These mutations can be inherited from a parent or they are de novo alterations. The discovery in 1991 that human disease can be caused by large-scale ex pansion of highly unstable trinucleotide repeats has elucidated a new mutation mechanism, heritable unstable DNA. In the subsequent years more then 10 such disease genes have been identified. All dynamic mutations have been iden tified in neurological disorders. There are ten possible trinucleotide repeats at the DNA level, but only 3 have been identified as being involved in human dis eases. The rather frequent occurence of triplet repeats in the human genome indicates that other loci subject to unstable expansions may be discovered. The identification of repeat instability and the identification of disease genes containing trinucleotide repeats has helped to answer intriguing questions. The diseases share the unusual characteristic of inheritance with increased disease severity in successive gernerations, a phenomenon called anticipation. Trinu cleotide repeat diseases are ideal subjects for direct testing because the muta tion is |
| 出版日期 | Book 1998 |
| 关键词 | DNA; DNA instability; diseases transmission; genes; genetic disorder; genetics; neurological diseases; trin |
| 版次 | 1 |
| doi | https://doi.org/10.1007/978-3-540-69680-3 |
| isbn_softcover | 978-3-662-22565-3 |
| isbn_ebook | 978-3-540-69680-3Series ISSN 0080-1844 Series E-ISSN 1861-0412 |
| issn_series | 0080-1844 |
| copyright | Springer-Verlag Berlin Heidelberg 1998 |
发表于 2025-3-21 16:07:12
