A 21 marker insertion deletion polymorphism panel to study biogeographic ancestry
A 21 marker insertion deletion polymorphism panel to study biogeographic ancestry
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DOI：
10.1016/j.fsigen.2012.12.007
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发表时间：
2013-02-01
影响因子：
3.1
通讯作者：
Schneider, Peter M.
中科院分区：
文献类型：
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作者：
Zaumsegel, Daniel;Rothschild, Markus A.;Schneider, Peter M.
插入/缺失多态性最近在法医遗传学界受到越来越多的关注。这类标记结合了单核苷酸多态性的有利遗传特性（即，低突变率、遗传稳定性和短扩增子大小），具有短串联重复标记的技术优势（通过荧光标记PCR和毛细管电泳进行简单检测）。对于大量的indel标记，已经报道了主要群体之间等位基因频率的显著差异，使得这类标记适合于分析地理学祖先。我们已经开发了一种多重PCR方法，旨在建立法医DNA样本的插入/缺失多态性的基础上的祖先。选择在三个主要人群组（欧洲人、非洲人和亚洲人）之间具有等位基因频率差异的一组21个短插入缺失以并入单管多重PCR测定。该分析是高度敏感的，需要小于0.5 ng的基因组DNA成功分型。由于短片段长度低于200 bp，该检测非常适合对具有挑战性的法医遗传学案例样本进行分型。已进行了群体遗传学研究，证明了该试验在推断个体祖先群体方面的性能。选择的21个标记足以区分三个主要的全球人群。此外，测定设计为扩展留出了空间，以覆盖其他人群。(C)2013爱思唯尔爱尔兰有限公司版权所有。
Insertion/deletion polymorphisms have recently received increased interest in the forensic genetics community. This class of markers combines the advantageous genetic properties of single nucleotide polymorphisms (i.e., low mutation rate, genetic stability, and short amplicon size) with the technical advantage of short tandem repeat markers (simple detection by fluorescence-labelled PCR and capillary electrophoresis). For a large number of indel markers significant differences in allele frequencies between the major populations have been reported, making this class of markers suitable for the analysis of biogeographic ancestry. We have developed a multiplex PCR assay designed to establish the biogeographic ancestry of forensic DNA samples based on insertion/deletion polymorphisms. A panel of 21 short indels with allele frequency differences between three major population groups (European, African and Asian) was selected to be incorporated into a single-tube multiplex PCR assay. The assay is highly sensitive, requiring less than 0.5 ng of genomic DNA for successful typing. Due to the short fragment lengths below 200 bp, the assay is ideally suited for the typing of challenging forensic genetic case work samples. A population genetic study has been performed proving the performance of the assay in inferring the ancestral population of individuals. The chosen 21 markers are sufficient to distinguish between three major global population groups. Furthermore, the assay design leaves room for an extension in order to cover additional population groups. (C) 2013 Elsevier Ireland Ltd. All rights reserved.