Exploring of new Y-chromosome SNP loci using Pyrosequencing and the SNaPshot methods
Exploring of new Y-chromosome SNP loci using Pyrosequencing and the SNaPshot methods
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DOI：
10.1007/s00414-011-0603-4
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发表时间：
2012-11
影响因子：
2.1
通讯作者：
Wei Wei-Wei;Haibo Luo;Jing Yan;Yingjian Hou
中科院分区：
文献类型：
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作者：
Wei Wei-Wei;Haibo Luo;Jing Yan;Yingjian Hou
Y染色体上的单核苷酸多态(Y-SNP)在法医学案件中具有重要意义。然而，在亚洲人群中，Y-SNP基因座大多是群体特有的，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快照方法的新的Y-SNP标记的寻找和基因分型的策略。通过对103个候选Y-SNP基因座在DNA池中的等位基因频率的估计，发现34个新的双等位基因标记在中国汉族人群中具有多态现象。然后，使用SNAPSHOT™多重试剂盒对20个Y-SNP基因座的多重系统进行基因分型。20个Y-SNP基因座决定了56种不同的单倍型，单倍型多样性为0.9539。我们的结果表明，该策略可以作为一种有效的工具，从大量的候选基因座中寻找双等位基因标记并进行基因分型。此外，20个Y-SNP基因座构建了一个多重体系，可为法医鉴定提供辅助信息。
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.