27个常染色体AIM-SNP的筛选和验证

Screening and verification of the 27 autosomal AIM-SNP

目的构建27个常染色体AIM-SNP组合用于未知个体种族来源推断。方法通过对Hap Map数据库中描述祖先遗传信息标记的908个AIMs位点(非洲、欧洲、东亚人群)筛选,选出27个AIMs位点组合,利用相关软件同时与数据库908个AIMs不同子集合的分析进行对比,验证其推断祖先来源的可行性。结果应用本研究27个AIMs的SNP多态性分析方法可以正确推断未知样品祖先起源,估算祖先成分比例。结论本研究建立的常染色体27个AIMs的SNP多态性分析方法可准确推断来自于欧洲、非洲、东亚3大祖先血统个体的祖先来源,是SNP多态性分析用于个体种族来源推断的一种有效方法,在法医实践中可以用于DNA检验中未知DNA供者洲际人群祖先来源推断。

Objective The aim of the study is to develop a method by 27 autosomal AIM-SNPs to infer ancestral origins of unknown individual. Methods Based on genotype data of Hap Map database, we selected a combination of 27 SNPs out of 908 ancestry-informative SNPs（AIM-SNPs） to discriminate African（AFR）, European（EUR） and East Asian（EAS） origins and used related software to compare with analysis of different subsets from 908 AIMs to verify the feasibility of the inference of their ancestral origin. Results The SNP polymorphism analysis method on 27 AIMs combination is able to infer the ancestral origins of unknown DNA samples and estimating the ancestry composition. Conclusion We established a well-performed method to discriminate the ancestry origins of individuals from African, European, and East Asian by 27 autosomal AIM-SNPs. This method is effective for inferring ancestry origins by SNP polymorphism analysis and can be used in the DNA test of an unknown DNA donor in forensic practice.