The Y Alu polymorphism in southern African populations and its relationship to other Y-specific polymorphisms.-猫眼课题宝

南部非洲人群中的 Y Alu 多态性及其与其他 Y 特异性多态性的关系。

DOI：

发表时间：

1994

期刊：

American Journal of Human Genetics

影响因子：

9.8

通讯作者：

中科院分区：

生物学1区

文献类型：

作者：

A. Spurdle;M. Hammer;T. Jenkins

在一些非洲人群中研究了Y连锁多态性。Y-特异性Alu插入多态性的等位基因的频率，被称为“Y Alu多态性”，在来自23个不同的非洲人口群体的889个个体中确定。频率的趋势进行了观察，与插入基本上没有在高加索人群中，在中等频率的科伊桑人，在高频率的黑人。插入早于智人的多样化，因为它发生在所有群体中。Alu插入被认为是由一个独特的突变事件，并进行了比较，这和其他几个Y-连锁多态性，试图验证其在人口和进化研究的有用性。p21 A1/TaqI和pDP 31/EcoRI多态性和49 a/TaqI等位基因均显示出现在不止一个场合，并且存在Y连锁假常染色体XY 275位点和Y染色体假常染色体边界之间的preraciation交叉事件的证据。

Y-linked polymorphisms were studied in a number of African populations. The frequency of the alleles of a Y-specific Alu insertion polymorphism, termed the "Y Alu polymorphism," was determined in 889 individuals from 23 different African population groups. A trend in frequency was observed, with the insert largely absent in Caucasoid populations, at intermediate frequency in the Khoisan, and at high frequency in Negroids. The insert predates diversification of Homo sapiens, since it occurs in all groups. The Alu insertion is believed to result from a unique mutation event, and comparisons between this and several other Y-linked polymorphisms were carried out in an attempt to validate their usefulness in population and evolutionary studies. The p21A1/TaqI and pDP31/EcoRI polymorphisms and 49a/TaqI alleles were all shown to have arisen on more than one occasion, and evidence exists for a preraciation crossover event between the Y-linked pseudoautosomal XY275 locus and the Y chromosome pseudoautosomal boundary.