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短串联重复序列(STR)位点的群体遗传学

Population genetics of short tandem repeat (STR) loci.

作者信息

Gill P, Evett I

机构信息

Forensic Science Service, Birmingham, UK.

出版信息

Genetica. 1995;96(1-2):69-87. doi: 10.1007/BF01441153.

Abstract

To investigate the population genetics of short tandem repeat (STR) polymorphisms in human populations, we have studied the allele frequency distributions of four STR loci (HUMTH01, HUMVWA31, HUMF13A1 and HUMFES) in 16 different population surveys which can be categorised within three broadly defined ethnic groups: Caucasian, Asian (Indian subcontinent), and African (Afro-Caribbean and US black). We have observed that allele frequency distributions of populations within ethnic groups are similar; consequently, genetic distances are an order of magnitude lower than between ethnic groups. Inbreeding coefficients (F-statistics) and calculations of the number of mean heterozygous loci per individual, along with estimates of variance, did not suggest that the populations were substructured. This included a study of an immigrant Asian population known to comprise at least three different sub-groups. Finally, an indication of the discriminating power is given by calculation of likelihood ratios (LR) of each individual tested across all four loci. Approximately 70% of Caucasians give an LR of greater than 10,000; the test is even more discriminating in Afro-Caribbeans--approximately 90% of tests are greater than 10,000.

摘要

为了研究人类群体中短串联重复序列(STR)多态性的群体遗传学,我们在16项不同的群体调查中研究了4个STR基因座(HUMTH01、HUMVWA31、HUMF13A1和HUMFES)的等位基因频率分布,这些调查可分为三大类族群:高加索人、亚洲人(印度次大陆)和非洲人(非裔加勒比人和美国黑人)。我们观察到,族群内群体的等位基因频率分布相似;因此,遗传距离比族群间低一个数量级。近交系数(F统计量)以及每个个体平均杂合基因座数量的计算,连同方差估计,均未表明群体存在亚结构。这包括对一个已知至少由三个不同亚群体组成的亚洲移民群体的研究。最后,通过计算所有四个基因座上每个受测个体的似然比(LR)给出鉴别力的指示。大约70%的高加索人给出的LR大于10000;该测试在非裔加勒比人中的鉴别力更强——大约90%的测试大于10000。

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