三核苷酸重复序列与基因组变异。
Trinucleotide repeats and genome variation.
作者信息
Kuhl D P, Caskey C T
机构信息
Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
出版信息
Curr Opin Genet Dev. 1993 Jun;3(3):404-7. doi: 10.1016/0959-437x(93)90112-3.
PMID:8353413
Abstract
The recent cloning of several disease genes has identified the instability of trinucleotide repeats as a fundamental mechanism for variation within the human genome. This mutation mechanism explains the unique inheritance characteristics of the diseases it causes, and there is a significant potential that this mechanism is involved in the pathogenesis of other, as yet uncharacterized, genetic diseases.
摘要
最近对几个疾病基因的克隆已确定三核苷酸重复序列的不稳定性是人类基因组变异的一种基本机制。这种突变机制解释了它所导致疾病独特的遗传特征，而且极有可能这种机制也参与了其他尚未明确的遗传病的发病过程。
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