A forensic method for the simultaneous analysis of biallelic markers identifying Y chromosome haplogroups inferred as having originated in Asia and the Japanese archipelago

A forensic method for the simultaneous analysis of biallelic markers identifying Y chromosome haplogroups inferred as having originated in Asia and the Japanese archipelago
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DOI:
10.1016/j.fsigen.2009.06.001
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发表时间:
2010-02-01
影响因子:
3.1
通讯作者:
Kasai, Kentaro
Kasai, Kentaro
中科院分区:
医学2区
文献类型:
--
作者:
Mizuno, Natsuko;Kitayama, Tetsushi;Kasai, Kentaro

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关于生物证据样本的祖先和地理来源的信息可能对犯罪调查人员有用,因为他们可以缩小样本可能捐赠者的范围。建立了一种同时分析7个双等位基因标记(M130、M131、M57、M125、M175、M122和M134)的法医学应用方法。包括M57、M125和M131以鉴定推断为起源于日本列岛的单倍群。我们的方法采用等位基因特异性PCR和片段分析,使用荧光标记引物和毛细管电泳。该方法可用于从降解的男性DNA样品和含有女性和男性DNA的混合物的DNA样品分配单倍型组,通过设计产生小扩增子并且对Y染色体上的靶高度特异的PCR引物。从日本四个主要岛屿和冲绳收集的1346个日本男性样本被分为7个Y二元单倍群,C-M130、C-M131、D-M57、D-M125、O-M175、O-M122和O-M134以及"未检测到突变"组,其频率分别为0.0617、0.0565、0.1441、0.182、0.3418、0.11、0.0847和0.0193。通过直接测序进一步分析"未检测到突变"的样品,以鉴定它们所属的主要单倍群。沿着单倍群数据,我们报告了AmpFlSTR(R)YfilerTM PCR扩增试剂盒(Applied Biosystems)中包含的16个Y-STR标记的单倍型数据。这些数据将有助于基于Y-STR单倍型的单倍群预测。(C)2009爱思唯尔爱尔兰有限公司保留所有权利。
Information regarding the ancestral and geographical origins of biological evidence samples may be useful for crime investigators as they narrow down the possible donors of the sample. A method for simultaneous analysis of seven biallelicmarkers (M130, M131, M57, M125, M175, M122 and M134) was developed for forensic application. M57, M125 and M131 are included to identify haplogroups inferred as having originated in the Japanese archipelago. Our method employs allele-specific PCR and fragment analysis using fluorescently labeled primers and capillary electrophoresis. This method can be used to assign a haplogroup from both of degraded male DNA samples and DNA samples containing a mixture of female and male DNA by designing PCR primers that generate small amplicons and are highly specific for targets on the Y chromosome. A total of 1346 samples from Japanese males collected from the four major islands and Okinawa island were classified into seven Y binary haplogroups i.e., C-M130, C-M131, D-M57, D-M125, O-M175, O-M122 and O-M134, and a "no-mutation detected" group and their frequencies were 0.0617, 0.0565, 0.1441, 0.182, 0.3418, 0.11, 0.0847 and 0.0193, respectively. Samples of "no-mutation detected" were further analyzed by direct sequencing for identification of the major haplogroup to which they belong. Along with the haplogroup data, we report haplotype data for the 16 Y-STR markers included in the AmpFlSTR(R) Yfiler(TM) PCR amplification kit (Applied Biosystems). These data will be useful in the prediction of haplogroups based on Y-STR haplotypes. (C) 2009 Elsevier Ireland Ltd. All rights reserved.