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使用多插入/缺失突变作为新型标记物用于法医目的分析13个X染色体单倍型位点。

Use of multi-InDels as novel markers to analyze 13 X-chromosome haplotype loci for forensic purposes.

作者信息

Fan Guangyao, Ye Yi, Luo Haibo, Hou Yiping

机构信息

Department of Forensic Genetics, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu, Sichuan, P. R. China.

Department of Forensic Analytical Toxicology, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu, Sichuan, P. R. China.

出版信息

Electrophoresis. 2015 Dec;36(23):2931-8. doi: 10.1002/elps.201500159. Epub 2015 Sep 17.

Abstract

Many studies have been proposed to identify insertion/deletion (InDel) polymorphisms in humans for forensic genetic studies. However, the discriminatory power of InDels is limited by the poor polymorphisms of diallelic markers. To improve their discriminatory power, we developed multi-InDel, a novel autosomal marker comprising more than two InDel loci that are tightly linked by their physical position and combined into a specific marker by a pair of PCR primers. This strategy gives at least three haplotypes for each multi-InDel marker. Such markers can be potentially very useful in forensic applications. In this study, we focused on multi-InDel markers located on X chromosome (ChrX). A multiplex system with 13 multi-InDel markers, including 28 InDel loci in ChrX, was developed. To validate the multi-InDel panel, the haplotype distribution in a population sample and in a set of pedigrees was investigated. This study demonstrates usefulness of these markers for individual identification and relationship studies. We highlight the fact that the multi-InDel markers located on ChrX can provide new supporting information for complex kinship testing.

摘要

许多研究旨在识别用于法医遗传学研究的人类插入/缺失(InDel)多态性。然而,InDels的鉴别能力受到双等位基因标记多态性较差的限制。为了提高它们的鉴别能力,我们开发了多InDel,这是一种新型常染色体标记,由两个以上的InDel位点组成,这些位点通过其物理位置紧密相连,并通过一对PCR引物组合成一个特定的标记。这种策略为每个多InDel标记至少提供三种单倍型。此类标记在法医应用中可能非常有用。在本研究中,我们重点关注位于X染色体(ChrX)上的多InDel标记。开发了一个包含13个多InDel标记的多重系统,其中包括ChrX中的28个InDel位点。为了验证多InDel面板,研究了群体样本和一组系谱中的单倍型分布。本研究证明了这些标记在个体识别和亲属关系研究中的有用性。我们强调了位于ChrX上的多InDel标记可以为复杂亲缘关系测试提供新的支持信息这一事实。

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