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利用微型热循环仪进行D1S80基因座分型。在基因同一性检测中的应用。

D1S80 locus typing by micro thermal cycler. Application to genetic identity testing.

作者信息

Castro A, Fernández-Fernández I, Alonso S, Barbero C, García-Orad A, Tamayo G, de Pancorbo M M

机构信息

Departamento de Biología Celular y Ciencias Morfológicas, Facultad de Medicina y Odontología, Universidad del País Vasco, Spain.

出版信息

J Forensic Sci. 1995 Jul;40(4):546-50.

PMID:7595291
Abstract

Based on a micro thermal cycler apparatus, a new protocol for amplification of the D1S80 locus has been developed. The advantages of this system consist of a reduction in time and costs of the amplification process, which greatly facilitates the analysis of the D1S80 locus at the population level and considerably increases its applicability in forensic samples. Using this protocol, an allele distribution study of the D1S80 locus has been carried out in a sample of 257 individuals residing in the Basque Country. In this study, up to 22 different alleles, ranging from 17 to 40 repetitions have been observed; moreover, the 35 and 38-repetition alleles, not reported in the european populations analyzed to date, have been detected. The sample studied fits Hardy-Weinberg equilibrium, the observed heterozygosity being 0.74, and the expected heterozygosity 0.804 +/- 0.012. The Chance of Exclusion and Index of Discrimination are 0.638 and 0.072 respectively. Moreover, the gene frequency distribution from the Basque resident population does not show significant differences when compared to other European and U.S. Caucasian populations.

摘要

基于一种微型热循环仪设备,已开发出一种用于扩增D1S80基因座的新方法。该系统的优点包括减少扩增过程的时间和成本,这极大地促进了在群体水平上对D1S80基因座的分析,并显著提高了其在法医样本中的适用性。使用该方法,对居住在巴斯克地区的257名个体的样本进行了D1S80基因座的等位基因分布研究。在这项研究中,观察到多达22种不同的等位基因,重复次数从17到40次不等;此外,还检测到了在迄今为止分析的欧洲人群中未报告的35次和38次重复的等位基因。所研究的样本符合哈迪-温伯格平衡,观察到的杂合度为0.74,预期杂合度为0.804±0.012。排除概率和鉴别指数分别为0.638和0.072。此外,与其他欧洲和美国白种人群体相比,巴斯克常住人口的基因频率分布没有显著差异。

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