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GENETIC ANTICIPATION - EXPANDING TANDEM REPEATS

被引：28
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.
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页码：683 / 697
页数：15
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