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微卫星标记与遗传病分析

Microsatellite markers and the analysis of genetic disease.

作者信息

Holmes N G

机构信息

Department of Infectious Diseases, Animal Health Trust, Newmarket, Suffolk, UK.

出版信息

Br Vet J. 1994 Sep-Oct;150(5):411-21. doi: 10.1016/S0007-1935(05)80190-3.

Abstract

The application of molecular biology is revolutionizing our understanding of the genetic contribution to disease in both man and animals. Candidate genes for a disorder can now be rapidly screened and sequenced. When no candidate gene is available, mutations can be localized to one particular region of a chromosome by positional cloning. This approach has been greatly facilitated by the development of microsatellites--DNA sequences with a simple repeated element that are both abundant and polymorphic. Microsatellites have been used successfully as disease markers and to locate the mutation in genetic disorders. They can also be used in DNA fingerprinting, for paternity testing, and as sequence tagged sites in genome mapping.

摘要

分子生物学的应用正在彻底改变我们对人类和动物疾病遗传因素的理解。现在可以快速筛选和测序疾病的候选基因。当没有候选基因时,可以通过定位克隆将突变定位到染色体的一个特定区域。微卫星(具有简单重复元件的DNA序列,既丰富又具有多态性)的发展极大地促进了这种方法。微卫星已成功用作疾病标记,并用于定位遗传疾病中的突变。它们还可用于DNA指纹识别、亲子鉴定以及作为基因组图谱中的序列标签位点。

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