GENETIC ANTICIPATION - EXPANDING TANDEM REPEATS

被引：29

作者：

CARPENTER, NJ

机构：

来源：

NEUROLOGIC CLINICS | 1994年 / 12卷 / 04期

关键词：

D O I：

10.1016/S0733-8619(18)30071-9

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The phenomenon of genetic anticipation, the progression of severity of an inherited disorder in successive generations, has not had a biologic explanation until recently. A new mutational mechanism of unstable trinucleotide (or triplet) tandem repeats in human genes has provided such an explanation. Several neurologic disorders including fragile X syndrome, myotonic dystrophy, Huntington's disease, spinocerebellar ataxia type 1, spinal and bulbar muscular atrophy, and FRAXE mental retardation, are caused by this type of mutation. A recent approach to identifying expanded repeats may simplify the process of finding candidate genes for other disorders that show features suggestive of anticipation.

引用

页码：683 / 697

页数：15

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