The potential forensic utility of two single nucleotide polymorphisms in predicting biogeographical ancestry
The potential forensic utility of two single nucleotide polymorphisms in predicting biogeographical ancestry
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两个单核苷酸多态性在预测生物地理祖先方面的潜在法医用途
DOI：
10.1016/j.fsigss.2011.08.052
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发表时间：
2011-12
影响因子：
--
通讯作者：
Yan Gu, Libing Yun, Lushun Zhang, Yiping Hou
中科院分区：
文献类型：
--
作者：
Yan Gu, Libing Yun, Lushun Zhang, Yiping Hou
基于 DNA 的个体生物地理血统预测将为特定法医案件提供一些调查线索价值。最近的研究表明，色素沉着相关基因（例如SLC24A5和OCA2）中的单核苷酸多态性（SNP）可以被视为祖先信息标记（AIM）。这些标记通常在表型和等位基因频率上存在较大差异，需要根据特定人群的综合分布数据进行评估和验证。在目前的工作中，我们对 413 名个体（包括 210 名汉族和 203 名维吾尔族）的这两个 SNP（位于 OCA2 基因外显子 12 的 rs1800407 和 SLC45A2 基因中的 rs16891982）进行了分型，这些人与中国的地理范围密切相关。我们的研究生成了中国人群的新等位基因数据，并揭示了汉族和维吾尔族之间色素沉着相关的 SNP 分布的显着差异。研究表明，在两个SNP位点上，汉族的纯合子频率高于维吾尔族；特别是杂合基因型仅在后一组中观察到。此外，我们的研究证实了早期结果并支持 SNP rs1800407 和 rs16891982 可能被选择用于 AIM。
DNA-based prediction of an individual biogeographical ancestry would provide some investigative lead value in specific forensic cases. Recent studies have shown that single nucleotide polymorphisms (SNPs) in pigmentation-related genes such as SLC24A5 and OCA2 can be considered as ancestry informative markers (AIMs). These markers, usually expected with large differences in phenotype and allele frequency, need to be assessed and validate on the basis of comprehensive distribution data in specific populations. In the present work we typed these two SNPs (rs1800407 located in exon 12 of the OCA2 gene and rs16891982 in the SLC45A2 gene) in 413 individuals including 210 Hans and 203 Uygurs, who are closely related for geographic range in China. Our study generates new allelic data of Chinese population and reveals the significant different distribution of pigmentation-associated SNPs between Hans and Uygurs. It has been shown that the Hans has higher frequency of homozygote than the Uygurs within two SNPs; especially heterozygous genotypes were only observed in the latter group. Furthermore, our research confirms the earlier results and supports SNP rs1800407 and rs16891982 can potentially be selected for AIMs.
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影响因子：
5.8
作者：
Ke, XY;Collins, A;Ye, S
通讯作者：
Ye, S
影响因子：
3.9
作者：
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影响因子：
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作者：
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