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日本人复合检测法:一种利用日本特异性等位基因鉴定日本人的法医单核苷酸多态性检测方法。

Japaneseplex: A forensic SNP assay for identification of Japanese people using Japanese-specific alleles.

作者信息

Yuasa Isao, Akane Atsushi, Yamamoto Toshimichi, Matsusue Aya, Endoh Minoru, Nakagawa Mayumi, Umetsu Kazuo, Ishikawa Takaki, Iino Morio

机构信息

Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan.

Department of Legal Medicine, Kansai Medical University, Hirakata, Japan.

出版信息

Leg Med (Tokyo). 2018 Apr 24;33:17-22. doi: 10.1016/j.legalmed.2018.04.008.

DOI:10.1016/j.legalmed.2018.04.008
PMID:29705644
Abstract

It is sometimes necessary to determine whether a forensic biological sample came from a Japanese person. In this study, we developed a 60-locus SNP assay designed for the differentiation of Japanese people from other East Asians using entirely and nearly Japanese-specific alleles. This multiplex assay consisted of 6 independent PCR reactions followed by single nucleotide extension. The average number and standard deviation of Japanese-specific alleles possessed by an individual were 0.81 ± 0.93 in 108 Koreans from Seoul, 8.87 ± 2.89 in 103 Japanese from Tottori, 17.20 ± 3.80 in 88 Japanese from Okinawa, and 0 in 220 Han Chinese from Wuxi and Changsha. The Koreans had 0-4 Japanese-specific alleles per individual, whereas the Japanese had 4-26 Japanese-specific alleles. Almost all Japanese were distinguished from the Koreans and other people by the factorial correspondence and principal component analyses. The Snipper program was also useful to estimate the degree of Japaneseness. The method described here was successfully applied to the differentiation of Japanese from non-Japanese people in forensic cases. This Japanese-specific SNP assay was named Japaneseplex.

摘要

有时有必要确定一份法医生物学样本是否来自日本人。在本研究中,我们开发了一种60个位点的SNP检测方法,旨在利用完全和近乎日本特有的等位基因将日本人与其他东亚人区分开来。这种多重检测方法由6个独立的PCR反应组成,随后进行单核苷酸延伸。在来自首尔的108名韩国人中,个体拥有的日本特有的等位基因的平均数和标准差为0.81±0.93;在来自鸟取的103名日本人中为8.87±2.89;在来自冲绳的88名日本人中为17.20±3.80;在来自无锡和长沙的220名汉族人中为0。韩国人个体拥有0至4个日本特有的等位基因,而日本人拥有4至26个日本特有的等位基因。通过因子对应分析和主成分分析,几乎所有日本人都与韩国人和其他人区分开来。Snipper程序在估计日本血统程度方面也很有用。这里描述的方法已成功应用于法医案件中区分日本人和非日本人。这种日本特有的SNP检测方法被命名为Japaneseplex。

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