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使用12个快速突变的Y染色体短串联重复序列对阿拉因族男性进行个体化研究以及巴基斯坦人群的父系血统共享情况

Male individualization using 12 rapidly mutating Y-STRs in Araein ethnic group and shared paternal lineage of Pakistani population.

作者信息

Javed Faqeeha, Sumbal Sumbal, Shafique Muhammad, Shahid Ahmad Ali, Shahzadi Abida, Rani Noshaba, Javid Hira, Javed Madeeha, Gillani Noman, Husnain Tayyab

机构信息

Forensic DNA Typing Laboratory, Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.

De'montmorency College of Dentistry, Lahore, Pakistan.

出版信息

Int J Legal Med. 2018 Nov;132(6):1621-1624. doi: 10.1007/s00414-018-1851-3. Epub 2018 May 24.

Abstract

A multiplex assay has been developed with newly designed primer sets comprising high mutation rate 12 RM Y-STR markers (DYS570, DYF399S1, DYS547, DYS612, DYF387S1, DYS449, DYS576, DYS5626, DYF403S1 (a + b), DYS627, DYS526, and DYF404S1). Rapidly mutating Y-STRs were evaluated in 167 male individuals among 97 were unrelated from Araein ethnic group and 70 belonged to shared paternal lineage including 20 pairs of father-son and 15 pairs of brother-brother relationship collected from Punjabi population of Pakistan. Forensic competency parameters were implemented for each marker and exceptionally significant results found wherein polymorphism information content (PIC) was in range of 0.7494 (DYS576) to 0.8994 (DYS627). Samples were also analyzed with Y-filer kit for comparison and marked differentiations observed. Haplotype discrimination capacity was 100% as no haplotype shared among all the unrelated individuals of same ethnic group as compared to 17 Y-filer loci (78%). While in closely related males, discrimination capacity was 96.4% with haplotype diversity value of 0.98. Resulted high mutation rate 1 × 10 to 7.14 × 10 as compared to Y-filer (1 × 10 to 1 × 10) manifested the power of RM Y-STRs for considering absolute individualization of interrelated and unrelated male individuals. However, multiplex assay would be useful for male discrimination in mixed DNA specimen, azoospermic males, and multiple male DNA contributors in sexual assault cases and mass disasters victim's identification as well as anthropological studies.

摘要

已经开发了一种多重检测方法,其使用新设计的引物组,该引物组包含高突变率的12个RM Y-STR标记(DYS570、DYF399S1、DYS547、DYS612、DYF387S1、DYS449、DYS576、DYS5626、DYF403S1(a + b)、DYS627、DYS526和DYF404S1)。在167名男性个体中评估了快速突变的Y-STR,其中97名来自阿拉伯因族群且无亲缘关系,70名属于共享父系谱系,包括从巴基斯坦旁遮普族人群中收集的20对父子关系和15对兄弟关系。对每个标记实施了法医鉴定能力参数,并发现了异常显著的结果,其中多态性信息含量(PIC)在0.7494(DYS576)至0.8994(DYS627)范围内。还使用Y-filer试剂盒对样本进行分析以作比较,并观察到明显差异。单倍型鉴别能力为100%,因为在同一族群的所有无亲缘关系个体中没有共享单倍型,而Y-filer的17个基因座的鉴别能力为78%。而在亲缘关系密切的男性中,鉴别能力为96.4%,单倍型多样性值为0.98。与Y-filer(1×10至1×10)相比,结果显示高突变率为1×10至7.14×10,这表明RM Y-STR在考虑相关和不相关男性个体的绝对个体化方面的能力。然而,多重检测方法对于混合DNA样本中的男性鉴别、无精子症男性、性侵犯案件和大规模灾难受害者鉴定中的多个男性DNA贡献者以及人类学研究将是有用的。

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