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用BglII、HindIII、PstI和SstI对Y染色体探针49a进行分析,发现了复杂的多态性。

Complex polymorphisms are revealed by Y chromosome probe 49a with BglII, HindIII, PstI and SstI.

作者信息

Spurdle A B, Jenkins T

机构信息

Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg.

出版信息

Ann Hum Genet. 1993 Jan;57(1):41-53. doi: 10.1111/j.1469-1809.1993.tb00885.x.

Abstract

Y chromosome probe 49a detects complex polymorphisms with BglII, HindII, PstI and SsTI, involving 19, 13, 18 and 11 variant bands respectively. The haplotype, a description of the arrangement of fragments in an individual, exhibits great variation. Most haplotypes are population-specific and occur infrequently. In a study of approximately 60 individuals of Caucasoid, Negroid and San origin, 21, 23, 28 and 24 haplotypes were revealed by BglII, HindIII, PstI and SstI respectively. Reduced genetic diversity in the Negroid population was ascribed to both the proposed recent common origin of the Bantu-speaking Negroid population from a proto-Bantu stock and the common practice of polygamy in African Negroids, as were specific correlations between the different polymorphisms within the Negroid population only. In general, no single haplotype for a given enzyme system strictly correlated with a haplotype from any of the other three systems, suggesting that each polymorphism results from a combination of restriction site mutations and rearrangement events. This tremendous variability has potential in paternity testing for male offspring.

摘要

Y染色体探针49a可检测出与BglII、HindII、PstI和SsTI相关的复杂多态性,分别涉及19条、13条、18条和11条变异带。单倍型是对个体中片段排列的一种描述,表现出很大的变异性。大多数单倍型是特定人群所特有的,且出现频率较低。在一项对约60名高加索人、黑人及桑人后裔个体的研究中,BglII、HindIII、PstI和SstI分别揭示出21种、23种、28种和24种单倍型。黑人人群中遗传多样性的降低既归因于推测的讲班图语的黑人人群近期源自原始班图族群这一共同起源,也归因于非洲黑人中普遍存在的一夫多妻制,而且仅在黑人人群中存在不同多态性之间的特定相关性。总体而言,对于给定的酶系统,没有任何一种单倍型与其他三个系统中的任何一种单倍型严格相关,这表明每种多态性都是由限制性位点突变和重排事件共同作用产生的。这种巨大的变异性在男性后代的亲子鉴定中具有潜在应用价值。

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