A global haplotype analysis of the myotonic dystrophy locus: Implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations
A global haplotype analysis of the myotonic dystrophy locus: Implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations
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DOI：
10.1086/301861
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发表时间：
1998-06-01
影响因子：
9.8
通讯作者：
Kidd, KK
中科院分区：
文献类型：
--
作者：
Tishkoff, SA;Goldman, A;Kidd, KK
对25个人群（5个非洲人，2个中东人，3个欧洲人，6个东亚人，3个太平洋/澳美拉尼西亚人，6个美洲印第安人）和5种非人灵长类动物的正常个体进行了由（CTG）(n)重复组成的单倍型和几个肌强直性营养不良（DM）位点的侧翼标记分析。非洲以外的人群具有非洲存在的单倍型多样性的一个子集，以及共享的等位基因关联模式。（CTG）（18-35）等位基因（大正常）仅在非洲东北部和非非洲人群中观察到，并且在（CTG）(n)重复序列的三个标记侧表现出强烈的连锁不平衡。观察到的单倍型多样性和连锁不平衡模式支持最近的现代人类进化的非洲起源模型，并表明产生导致dm的等位基因的原始突变事件出现在现代人类离开非洲之前的非非洲人祖先群体中。
Haplotypes consisting of the (CTG)(n) repeat, as well as several flanking markers at the myotonic dystrophy (DM) locus, were analyzed in normal individuals from 25 human populations (5 African, 2 Middle Eastern, 3 European, 6 East Asian, 3 Pacific/Australo-Melanesian, sind 6 Amerindian) and in five nonhuman primate species. Non-African populations have a subset of the haplotype diversity present in Africa, as well as a shared pattern of allelic association. (CTG)(18-35) alleles (large normal) were observed only in northeastern African and non-African populations and exhibit strong linkage disequilibrium with three markers flanking the (CTG)(n) repeat. The pattern of haplotype diversity and linkage disequilibrium observed supports a recent African-origin model of modern human evolution and suggests that the original mutation event that gave rise to DM-causing alleles arose in a population ancestral to non-Africans prior to migration of modern humans out of Africa.