Spurdle A, Jenkins T
Department of Human Genetics, School of Pathology, South African Institute of Medical Research, Johannesburg.
Am J Hum Genet. 1992 Jan;50(1):107-25.
Y-specific 49a/TaqI haplotypes were determined for 831 individuals drawn from 21 different southern African populations. A total of 31 new haplotypes were observed, some of which contained new alleles or allelic variants. Duplication, in addition to CpG mutation, is implicated in the generation of certain allelic variants. Cluster analysis of genetic distances between the populations, calculated using the 49a/TaqI haplotype frequencies, revealed a basic split between African and non-African populations. Hybrid groups cluster with the caucasoid groups, indicating that male gene flow has occurred from the latter into the former. Clustering of the negroid and Khoisan groups is not what might have been expected from the known linguistic affinities. It is suggested that the 49a/TaqI haplotype analysis of these populations is not sufficiently sensitive to distinguish between many of the populations. The Y-specific 49a/PvuII polymorphism was studied in 127 individuals from southern African populations, and 17 polymorphic fragments ranging in size from 3.6 kb to greater than 48 kb were identified. A total of 53 PvuII haplotypes were observed, corresponding to only 30 TaqI haplotypes. There appears to be poor correlation between the two polymorphisms.
对来自21个不同南部非洲人群的831名个体确定了Y特异性49a/TaqI单倍型。共观察到31种新的单倍型，其中一些包含新的等位基因或等位基因变体。除了CpG突变外，重复也与某些等位基因变体的产生有关。使用49a/TaqI单倍型频率计算人群之间的遗传距离进行聚类分析，揭示了非洲人群和非非洲人群之间的基本分化。混合群体与高加索人群聚类，表明男性基因流从后者流入前者。黑人与科伊桑人群的聚类情况与已知的语言亲缘关系所预期的不同。有人认为，对这些人群进行49a/TaqI单倍型分析对区分许多人群的敏感性不足。对来自南部非洲人群的127名个体研究了Y特异性49a/PvuII多态性，鉴定出17个大小从3.6 kb到大于48 kb的多态性片段。共观察到53种PvuII单倍型，仅对应30种TaqI单倍型。这两种多态性之间似乎相关性较差。
