中国汉族群体O3-M122单倍群下游AIMs系统深度挖掘、验证和应用基础研究

Y染色体是目前筛选祖先信息位点、分析人群遗传结构的最重要遗传标记。O3-M122是中国汉族最为常见的父系类型，目前，由于Y染色体测序数据缺乏，导致O3-M122单倍群的下游测试位点较少,限制了Y-SNP在分子人类学和法医学应用范围。为此，本研究拟通过大样本量检测汉族群体Y-STR和Y-SNP，筛选O3-M122代表性样本，采用Y染色体目标序列捕获测序技术结合微测序深度挖掘、并甄选具有地理和姓氏分辨力的AIM-SNPs，最终构建一组适用于法医学高通量或中通量技术平台分析的Y HG-O3 AISNP panel。本研究的开展一方面可以扩充东亚个体Y-SNP/Y-STR基础数据库的容量，进一步细化Y染色体O3-M122谱系树；另一方面对于法医学中推断未知DNA样本的民族及地理来源具有重要意义，可拓宽Y染色体在法医物证学的应用范围，更好地为法庭科学提供服务。

The Y chromosome contains the longest non-recombining region in the human genome, making it an informative tool for reconstructing genetic relationship of human populations and paternal lineages, and dating important evolutionary and demographic events. The O3-M122 haplogroup is present with high frequency across many extant East Asian populations and encompass more than 40% of the present Han Chinese in total. However, The fact that insufficient sequencing data of Y chromosomes of human populations lead to lack of test sites of haplogroup O3-M122 downstream, greatly limited the application of Ychromosomal DNA in the field of forensic and molecular anthropology.For this reason,to achieve sufficiently high coverage in the non-recombining regions of Y chromosome (NRY) and an adequate representation of individual samples, we will select 300 males, encompassing only the haplogroups O3-M122 and sequence their nonrepetitive segments of NRY using a capturing specific sequencies by modified oligonucleotide probes. After the further verification of the ancestry informative markers results by sequencing, the final panel of Y HG-O3 AISNP will be developed for the accurate estimation of the source of unkown DNA. Also, we will conduct a comprehensive assessment of this panel on a large routine sample size,and forensic caseworks. Therefore, this study will expand the capacity of Y-STR and Y-SNP databases and refinement the structure of Y lineage tree. Morever, A novel HG-O3 AISNP panel for idividual genetic composition will improve the efficiency and effectiveness of Ychromosome in forensic sciences.