TRINUCLEOTIDE REPEAT EXPANSIONS AND HUMAN GENETIC-DISEASE

被引：111

作者：

BATES, G ^{[1
]}

LEHRACH, H ^{[1
]}

机构：

[1] IMPERIAL CANC RES FUND, GENOME ANAL LAB, LONDON WC2A 3PX, ENGLAND

来源：

BIOESSAYS | 1994年 / 16卷 / 04期

关键词：

D O I：

10.1002/bies.950160411

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Trinucleotide repeat expansions are now a well-established mutational mechanism in human genetic disease. An unstable CAG repeat is known to be responsible for three neurodegenerative disorders: Huntington's disease, spinal and bulbar musclar atrophy and spinocerebellar ataxia type 1. Similarities in the genetics of these diseases, the size of the repeat expansions and the position of the unstable repeat within the gene (when known) suggest a common basis to the observed phenotypes. The cloning of two regions at which chromosome breakage can be induced (FRAXA and FRAXE) has in each case uncovered an unstable CG-rich triplet repeat which becomes methylated when fully expanded. In addition to these two classes of mutation, the presence of an expanded CTG repeat in the 3' untranslated region of a protein kinase causes myotonic dystrophy. The size of the respective expansions, repeat stability, mutational origins and possible mechanisms of action are discussed.

引用

页码：277 / 284

页数：8

共 74 条

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