Spurdle A B, Hammer M F, Jenkins T
Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg.
Am J Hum Genet. 1994 Feb;54(2):319-30.
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.
在一些非洲人群中对Y连锁多态性进行了研究。在来自23个不同非洲人群组的889名个体中，确定了一种Y特异性Alu插入多态性（称为“Y Alu多态性”）的等位基因频率。观察到频率存在一种趋势，即该插入在高加索人群中基本不存在，在科伊桑人中频率中等，而在黑人中频率较高。由于该插入存在于所有群体中，所以它早于智人的分化。Alu插入被认为是由一个独特的突变事件导致的，并且对其与其他几种Y连锁多态性进行了比较，以试图验证它们在群体和进化研究中的有用性。p21A1/TaqI和pDP31/EcoRI多态性以及49a/TaqI等位基因都被证明不止一次出现，并且有证据表明Y连锁假常染色体XY275位点与Y染色体假常染色体边界之间存在种族形成前的交叉事件。
