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多个祖先信息标记面板之间的单核苷酸多态性(SNP)重叠最少,这表明需要更多的国际合作。

Minimal SNP overlap among multiple panels of ancestry informative markers argues for more international collaboration.

作者信息

Soundararajan Usha, Yun Libing, Shi Meisen, Kidd Kenneth K

机构信息

Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.

Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA; Institute of Forensic Medicine, West China College of Preclinical and Forensic Medicine, Sichuan University, No.16. Section 3, RenMin Nan Road, Chengdu 610041, Sichuan, PR China.

出版信息

Forensic Sci Int Genet. 2016 Jul;23:25-32. doi: 10.1016/j.fsigen.2016.01.013. Epub 2016 Jan 22.

Abstract

The century-old use of genetic markers to determine population relationships has morphed in modern forensics into use of markers to determine the ancestry of an individual from a DNA sample. Researchers have identified sets of SNPs that have frequency differences among populations and many sets of SNPs have been published for the purpose of inferring ancestry. Such inference also requires reference datasets for the particular set of SNPs selected. We have identified 21 largely independent published panels of ancestry informative SNPs (AISNPs) and examined their union of 1397 SNPs. No SNP occurs in more than 6 panels. The 1397 SNPs in 21 panels yield a largely empty matrix that is inhibiting progress on more refined ability to infer ancestry for a forensic sample. The most common set of reference populations is the HGDP set of 52 small population samples totaling a thousand individuals. Only 46 (3%) of the 1397 SNPs occur in three or more panels. We assembled a new dataset for 44 of those SNPs involving 4,559 individuals from 73 populations. Analyses of this dataset provided clear differentiation of only five biogeographic regions: sub-Saharan Africa, Europe and SW Asia, South Asia, East Asia, and the Americas. This is an inadequate level of biogeographic resolution already exceeded by other panels. We conclude that more such AISNP panels are not needed and that the forensic community must collaborate to develop a common set of highly differentiating AISNPs typed on a very large number of population samples. How that can be accomplished will be the subject of future discussion.

摘要

在现代法医学中,利用遗传标记确定群体关系这一由来已久的做法,已演变为通过标记从DNA样本中确定个体的祖先。研究人员已经识别出在不同群体中存在频率差异的单核苷酸多态性(SNP)集合,并且已经发布了许多SNP集合用于推断祖先。这种推断还需要针对所选特定SNP集合的参考数据集。我们识别出了21个基本独立的已发表的祖先信息性SNP(AISNP)面板,并对它们共有的1397个SNP进行了研究。没有一个SNP出现在超过6个面板中。21个面板中的1397个SNP产生了一个基本为空的矩阵,这阻碍了在更精细地推断法医样本祖先能力方面取得进展。最常用的参考群体集是包含52个小群体样本、总计1000人的人类基因组多样性计划(HGDP)集合。在1397个SNP中,只有46个(3%)出现在三个或更多面板中。我们为其中44个SNP组装了一个新数据集,涉及来自73个群体的4559个人。对该数据集的分析仅清晰区分了五个生物地理区域:撒哈拉以南非洲、欧洲和西南亚、南亚、东亚以及美洲。这种生物地理分辨率水平不足,其他面板已经超越了这一水平。我们得出结论,不需要更多这样的AISNP面板,法医界必须合作开发一组通用的、在大量群体样本上分型的高度差异化AISNP。如何实现这一点将是未来讨论的主题。

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