强直性肌营养不良基因座的全球单倍型分析：对现代人类进化及强直性肌营养不良突变起源的启示
A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations.
作者信息
Tishkoff S A, Goldman A, Calafell F, Speed W C, Deinard A S, Bonne-Tamir B, Kidd J R, Pakstis A J, Jenkins T, Kidd K K
机构信息
Department of Genetics, Yale University School of Medicine, New Haven, CT 06520-8005, USA.
出版信息
Am J Hum Genet. 1998 Jun;62(6):1389-402. doi: 10.1086/301861.
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, and 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.
对来自25个人类群体（5个非洲群体、2个中东群体、3个欧洲群体、6个东亚群体、3个太平洋/澳大利亚-美拉尼西亚群体和6个美洲印第安群体）的正常个体以及5种非人类灵长类物种，分析了由（CTG）n重复序列以及强直性肌营养不良（DM）基因座处的几个侧翼标记组成的单倍型。非非洲群体拥有非洲存在的单倍型多样性的一个子集，以及等位基因关联的共享模式。（CTG）18 - 35等位基因（大的正常等位基因）仅在非洲东北部和非非洲群体中观察到，并且与（CTG）n重复序列侧翼的三个标记表现出强连锁不平衡。观察到的单倍型多样性和连锁不平衡模式支持现代人类进化的近期非洲起源模型，并表明导致DM致病等位基因的原始突变事件发生在现代人类迁出非洲之前的非非洲人群的祖先群体中。
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