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新型 Y 染色体短串联重复序列在 DYS710、DYS518、DYS385、DYS644、DYS612、DYS626、DYS504、DYS481、DYS447 和 DYS449 位点的变异。

Novel Y-chromosome short tandem repeat sequence variation for loci DYS710, DYS518, DYS385, DYS644, DYS612, DYS626, DYS504, DYS481, DYS447 and DYS449.

机构信息

Forensic DNA Laboratory, Department of Biotechnology, University of the Western Cape, Bellville, 7535, South Africa.

Department of Chemistry, Eastern Kentucky University, Richmond, KY, 40475, USA.

出版信息

Int J Legal Med. 2019 Nov;133(6):1681-1689. doi: 10.1007/s00414-019-02056-7. Epub 2019 Apr 13.

Abstract

In forensic casework, Y-chromosome short tandem repeats (Y-STRs) are essential for differentiating between unrelated males and resolving the male component of admixed biological evidence. While the majority of Y-STRs are adequate for discriminating between different paternal lineages, rapidly mutating Y-STRs are necessary for improving discrimination between males within populations of low Y-chromosome diversity and between paternal relatives. Alternatively, sequencing of Y-STRs may also improve the discrimination between isometric Y-STR alleles by identifying variation in the repeat unit pattern arrangements and by identifying SNPs in the flanking region or within the STR repeat unit itself. In this report, a total of 153 DNA sequences are presented across the Y-STR loci DYS710, DYS518, DYS385, DYS644, DYS612, DYS626, DYS504, DYS481, DYS447 and DYS449. A total of 94 Y-STR sequences provided herein are reported for the first time, of which 37 sequences represent alleles showing size homoplasy, 34 sequences of known alleles for which sequence data has been unavailable and a total of 23 novel allele sequences across loci DYS644, DS447, DYS710 and DYS504. This study further encountered a rare sequence variant in the 5' flanking region of DYS385 and a total of two SNPs in the repeat structure at DYS481 and DYS449.

摘要

在法医学工作中,Y 染色体短串联重复序列(Y-STR)对于区分无关男性和解决混合生物证据的男性成分至关重要。虽然大多数 Y-STR 足以区分不同的父系血统,但快速突变的 Y-STR 对于提高低 Y 染色体多样性人群中男性之间以及父系亲属之间的区分能力是必要的。或者,Y-STR 的测序也可以通过识别重复单元模式排列的变化以及在侧翼区域或 STR 重复单元本身中识别 SNP 来提高等长 Y-STR 等位基因的区分能力。在本报告中,总共在 Y-STR 基因座 DYS710、DYS518、DYS385、DYS644、DYS612、DYS626、DYS504、DYS481、DYS447 和 DYS449 中呈现了总共 153 个 DNA 序列。本文首次报道了总共 94 个 Y-STR 序列,其中 37 个序列代表显示大小同型的等位基因,34 个序列是已知等位基因但序列数据不可用,以及总共 23 个新的等位基因序列跨越 DYS644、DS447、DYS710 和 DYS504 基因座。本研究还在 DYS385 的 5'侧翼区遇到了一个罕见的序列变异,以及在 DYS481 和 DYS449 的重复结构中总共遇到了两个 SNP。

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