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意大利人群中四个微卫星的特征分析及其在亲子鉴定中的应用。

Characterization of four microsatellites in an Italian population and their application to paternity testing.

作者信息

Sirchia S M, Garagiola I, De Andreis C, Gazzoli I, Gramegna M, Colucci G

机构信息

Fondazione Centro Studi di Patologia Molecolare Applicata alla Clinica, Milan, Italy.

出版信息

Mol Cell Probes. 1996 Apr;10(2):155-8. doi: 10.1006/mcpr.1996.0021.

Abstract

Microsatellites have recently been used for linkage analysis of genetic diseases and for DNA fingerprinting in forensic medicine. In the present study the heterozygosity, PIC values and allele distributions of four microsatellites, D8S85, D8S88, D5S346 and D7S460, in an Italian population have been investigated. After amplification with primers specific for each locus, alleles were separated and detected by denaturing gel electrophoresis and ethidium bromide staining. High heterozygosity and PIC values were observed for all microsatellites in accordance with data in other Caucasian populations. However, different allele distributions for D8S85, D8S88 and D5S346, due to the presence of additional bands or to different frequencies, were found. D7S460, which has never been fully characterized before, appeared to have five alleles in the range 172 to 188 bp. When used for paternity testing, all microsatellites gave results which were consistent with those obtained with established markers, including apo B 3'HVR, D1S80 and COL2A1. This indicates that D8S85, D8S88, D5S346 and D7S460 may be useful as additional informative markers or for solving discrepancies in selected cases.

摘要

微卫星近来已用于遗传病的连锁分析以及法医学中的DNA指纹识别。在本研究中,调查了意大利人群中四个微卫星D8S85、D8S88、D5S346和D7S460的杂合性、PIC值及等位基因分布。用针对每个位点的引物进行扩增后,通过变性凝胶电泳和溴化乙锭染色分离并检测等位基因。与其他高加索人群的数据一致,所有微卫星均观察到高杂合性和PIC值。然而,发现D8S85、D8S88和D5S346存在不同的等位基因分布,这是由于存在额外条带或频率不同所致。此前从未被完全鉴定的D7S460,似乎有五个等位基因,范围在172至188bp之间。当用于亲子鉴定时,所有微卫星给出的结果与使用既定标记(包括载脂蛋白B 3'HVR、D1S80和COL2A1)所获得的结果一致。这表明D8S85、D8S88、D5S346和D7S460可用作额外的信息性标记或用于解决特定案例中的差异。

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