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希腊人群中五个可变数目串联重复序列(VNTR)位点的研究。

A study of five variable number tandem repeat (VNTR) loci in the Greek population.

作者信息

Hatzaki A, Loukopoulos D, Spiliopoulou H, Koutselinis A

机构信息

Laboratory of Forensics and Toxicology School of Medicine, University of Athens, Greece.

出版信息

Mol Cell Probes. 1995 Apr;9(2):129-33. doi: 10.1016/s0890-8508(95)80037-9.

Abstract

The use of hypervariable tandem repeat loci for population genetic studies, genetic analysis of inherited disease and individual identification purposes requires establishment of a genetic database for each reference population. In the present study we have analysed variability at five tandem repeat loci (D1S80, D17S5, 3'-hvr/apoB, F8vWF and D6S89)in a representative sample (88 to 156 individuals of greek ancestry), using polymerase chain reaction amplification. Between nine and 19 alleles were resolved throughout the five polymorphic loci. Heterozygosity indices for these loci in the greek population ranged from 0.68 to 0.85. Allele frequencies follow a bimodal discrimination (pd) and allelic diversity (h) values ranged from 0.84 to 0.94 and 0.85 to 0.91, respectively, and indicated that these loci are highly informative and can be used for population studies, forensic purposes and parentage and family testing. Comparison of observed and expected genotype frequencies by the conventional chi-square test indicated conformity to Hardy-Weinberg predictions.

摘要

将高变串联重复基因座用于群体遗传学研究、遗传性疾病的遗传分析以及个体识别目的,需要为每个参考群体建立一个遗传数据库。在本研究中,我们使用聚合酶链反应扩增技术,分析了一个具有代表性的样本(88至156名希腊血统个体)中五个串联重复基因座(D1S80、D17S5、3'-hvr/apoB、F8vWF和D6S89)的变异性。在这五个多态性基因座中,共分辨出9至19个等位基因。这些基因座在希腊人群中的杂合度指数范围为0.68至0.85。等位基因频率遵循双峰分布,等位基因鉴别率(pd)和等位基因多样性(h)值分别在0.84至0.94和0.85至0.91之间,这表明这些基因座具有高度信息性,可用于群体研究、法医学目的以及亲子鉴定和家系检测。通过传统卡方检验比较观察到的和预期的基因型频率,结果表明符合哈迪-温伯格预测。

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