TRINUCLEOTIDE REPEAT EXPANSION AND HUMAN-DISEASE

被引：10

作者：

HUMMERICH, H

LEHRACH, H

机构：

[1] Genome Analysis Laboratory, Imperial Cancer Research Fund, London

来源：

ELECTROPHORESIS | 1995年 / 16卷 / 09期

关键词：

D O I：

10.1002/elps.11501601282

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

Trinucleotide repeat expansions have been identified as the underlying mutation in an increasing number of human genetic diseases, such as fragile site syndromes, myotonic dystrophy and several neurodegenerative disorders including Huntington's disease. By an unknown mechanism, polymorphic CG-rich triplet repeats expand in all these diseases. The expansions of a CCG repeat in fragile-site-associated disorders and the CTG repeat (in the 3'-untranslated region of the myotonin kinase gene) causing myotonic dystrophy are very large, whereas small expansions of CAG repeats have been identified in the open reading frame of genes in a number of neurological genetic disorders.

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页码：1698 / 1704

页数：7

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