Department of Forensic Genetics, West China School of Basic Science and Forensic Medicine, Sichuan University (West China University of Medical Sciences), Chengdu, 610041, Sichuan, China.
Int J Legal Med. 2012 Nov;126(6):825-33. doi: 10.1007/s00414-011-0603-4. Epub 2011 Jul 21.
The single nucleotide polymorphisms on the Y chromosome (Y-SNP) have been considered to be important in forensic casework. However, Y-SNP loci were mostly population specific and lacked biallelic polymorphisms in the Asian population. In this study, we developed a strategy for seeking and genotyping new Y-SNP markers based on both Pyrosequencing and the SNaPshot methods. As results, 34 new biallelic markers were observed to be polymorphic in the Chinese Han population by estimation of allele frequencies of 103 candidate's Y-SNP loci in DNA pools using Pyrosequencing technology. Then, a multiplex system with 20 Y-SNP loci was genotyped using the SNaPshot™ multiplex kit. Twenty Y-SNP loci defined 56 different haplotypes, and the haplotype diversity was estimated to be 0.9539. Our result demonstrated that the strategy could be used as an efficient tool to search and genotype biallelic markers from a large amount of candidate loci. In addition, 20 Y-SNP loci constructed a multiplex system, which could provide supplementary information for forensic identification.
Y 染色体上的单核苷酸多态性（Y-SNP）被认为在法医学中很重要。然而，Y-SNP 位点大多是特定于人群的，并且在亚洲人群中缺乏双等位基因多态性。在这项研究中，我们开发了一种基于焦磷酸测序和 SNaPshot 方法寻找和基因分型新的 Y-SNP 标记的策略。结果，通过使用焦磷酸测序技术对 103 个候选 Y-SNP 位点的 DNA 池进行等位基因频率估计，发现 34 个新的双等位基因标记在中国汉族人群中呈现多态性。然后，使用 SNaPshot™多重试剂盒对 20 个 Y-SNP 位点进行了基因分型。20 个 Y-SNP 位点定义了 56 种不同的单倍型，单倍型多样性估计为 0.9539。我们的结果表明，该策略可作为一种从大量候选位点中搜索和基因分型双等位基因标记的有效工具。此外，20 个 Y-SNP 位点构建了一个多重系统，可以为法医鉴定提供补充信息。
