Coding region mitochondrial DNA SNPs: Targeting East Asian and Native American haplogroups
Coding region mitochondrial DNA SNPs: Targeting East Asian and Native American haplogroups
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DOI：
10.1016/j.fsigen.2006.09.001
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发表时间：
2007-03-01
影响因子：
3.1
通讯作者：
Salas, A.
中科院分区：
文献类型：
--
作者：
Alvarez-Iglesias, V.;Jaime, J. C.;Salas, A.
我们开发了一种单一PCR多重SNaPshot反应，由32个编码区SNP组成，可以（i）提高法医案例中线粒体DNA（mtDNA）分型的区分力，以及（ii）在人类研究中对线粒体DNA图谱进行单倍群分配人口研究（例如人类学）和医学研究。选择的SNP靶向东亚同源性，包括其美洲原住民衍生的分支。我们通过对东亚人（台湾人）和美洲原住民（阿根廷人）样本进行基因分型，验证了这种多重检测。除了编码SNP分型外，我们还对相同样品的完整对照区进行了测序。基因分型结果（对照区加SNaPshot图谱）与先前的人群遗传学研究（基于例如完全测序）和已知的mtDNA遗传学结果非常一致。我们观察到SNaPshot方法与其他多重SNP基因分型技术相比是可靠的，快速的，成本效益高的。我们讨论了我们的SNP基因分型选择相对于以前的尝试的优势，我们强调使用已知的mtDNA的SNP分析解释的框架，并作为一种工具，以尽量减少基因分型错误的重要性。(C)2006爱思唯尔爱尔兰有限公司保留所有权利。
We have developed a single PCR multiplex SNaPshot reaction that consists of 32 coding region SNPs that allows (i) increasing the discrimination power of the mitochondrial DNA (mtDNA) typing in forensic casework, and (ii) haplogroup assignments of mtDNA profiles in both human population studies (e.g. anthropological) and medical research. The selected SNPs target the East Asian phylogeny, including its Native American derived branches. We have validated this multiplex assay by genotyping a sample of East Asians (Taiwanese) and Native Americans (Argentineans). In addition to the coding SNP typing, we have sequenced the complete control region for the same samples. The genotyping results (control region plus SNaPshot profiles) are in good agreement with previous human population genetic studies (based on e.g. complete sequencing) and the known mtDNA phylogeny. We observe that the SNaPshot method is reliable, rapid, and cost effective in comparison with other techniques of multiplex SNP genotyping. We discuss the advantages of our SNP genotyping selection with respect to previous attempts, and we highlight the importance of using the known mtDNA phylogeny as a framework for SNP profile interpretation and as a tool to minimize genotyping errors. (C) 2006 Elsevier Ireland Ltd. All rights reserved.