Santos Carla, Phillips Christopher, Oldoni Fabio, Amigo Jorge, Fondevila Manuel, Pereira Rui, Carracedo Ángel, Lareu Maria Victoria
Forensic Genetics Unit, Institute of Legal Medicine, University of Santiago de Compostela, Spain.
Forensic Genetics Unit, Institute of Legal Medicine, University of Santiago de Compostela, Spain.
Forensic Sci Int Genet. 2015 Jul;17:75-80. doi: 10.1016/j.fsigen.2015.03.011. Epub 2015 Mar 25.
The use of ancestry informative markers (AIMs) in forensic analysis is of considerable utility since ancestry inference can progress an investigation when no identification has been made of DNA from the crime-scene. Short-amplicon markers, including insertion deletion polymorphisms, are particularly useful in forensic analysis due to their mutational stability, capacity to amplify degraded samples and straightforward amplification technique. In this study we report the completion of H952 HGDP-CEPH panel genotyping with a set of 46 AIM-Indels. The study adds Central South Asian and Middle Eastern population data, allowing a comparison of patterns of variation in Eurasia for these markers, in order to enhance their use in forensic analyses, particularly when combined with sets of ancestry informative SNPs. Ancestry analysis using principal component analysis and Bayesian methods indicates that a proportion of classification error occurs with European-Middle East population comparisons, but the 46 AIM-Indels have the capability to differentiate six major population groups when European-Central South Asian comparisons are made. These findings have relevance for forensic ancestry analyses in countries where South Asians form much of the demographic profile, including the UK, USA and South Africa. A novel third allele detected in MID-548 was characterized - despite a low frequency in the HGDP-CEPH panel samples, it appears confined to Central South Asian populations, increasing the ability to differentiate this population group. The H952 data set was implemented in a new open access SPSmart frequency browser - forInDel: Forensic Indel browser.
在法医分析中使用祖先信息标记（AIMs）具有相当大的实用价值，因为当无法从犯罪现场鉴定出DNA时，祖先推断可以推进调查。短扩增子标记，包括插入缺失多态性，由于其突变稳定性、扩增降解样本的能力和简单的扩增技术，在法医分析中特别有用。在本研究中，我们报告了使用一组46个AIM插入缺失完成H952 HGDP-CEPH面板基因分型。该研究增加了中南亚和中东人群数据，以便比较这些标记在欧亚大陆的变异模式，以增强它们在法医分析中的应用，特别是与祖先信息单核苷酸多态性（SNP）集结合使用时。使用主成分分析和贝叶斯方法进行的祖先分析表明，在欧洲-中东人群比较中会出现一定比例的分类错误，但当进行欧洲-中南亚比较时，这46个AIM插入缺失有能力区分六个主要人群组。这些发现与南亚人在人口构成中占很大比例的国家（包括英国、美国和南非）的法医祖先分析相关。在MID-548中检测到的一个新的第三个等位基因得到了表征——尽管在HGDP-CEPH面板样本中的频率较低，但它似乎仅限于中南亚人群，从而增加了区分该人群组的能力。H952数据集已在一个新的开放获取的SPSmart频率浏览器——forInDel：法医插入缺失浏览器中实现。
