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[人类群体中出现的突变的检测]

[The detection of mutations arising in human populations].

作者信息

Nazarova A F

出版信息

Tsitol Genet. 1991 May-Jun;25(3):52-7.

PMID:1926567
Abstract

The problem on screening of de novo mutations, arising in populations, by the method of search for rare protein variants has been critically discussed. The data on monomorphic loci and rare variants of human blood proteins, and platelet monoamine oxidase previously not studied in terms of populations are presented. A method is suggested to screen mutations, using restriction analysis of mitochondrial DNA in mouse populations.

摘要

通过寻找罕见蛋白质变体的方法对人群中新生突变进行筛查的问题已受到批判性讨论。本文展示了关于人类血液蛋白质单态位点和罕见变体以及此前未从群体角度研究过的血小板单胺氧化酶的数据。建议采用一种利用小鼠群体中线粒体DNA限制性分析来筛查突变的方法。

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