中国四川汉族人群Y染色体单核苷酸多态性分析

Analysis of Y-chrmnosomal biallelic polynmrphisms in Sichuan Han of Chinese population

目的评估Y染色体单核苷酸多态性（single nucleotide polymorphisms，SNPs）遗传标记的法医学应用价值。方法用等位基因特异性PCR，限制性酶切和直接扩增法检测了161名中国四川汉族人Y染色体上10个SNPs位点M9，M15，M45，M89，M95，M122，M134，M145，M173和P25的多态性。结果有8个位点发现遗传多态性，多态性频率0．988／0．012～0．752／0．248。个人识别能力0．094～0．373，累积个人识别能力为0．8308，M122和M134在中国四川汉族人群中的多态性最高。按照国际Y染色体学会的命名原则，10个位点命名了9种单倍组型，单倍组型频率1．2％～52．2％，其中75．2％的中国四川汉族人主要是K＊（X02a，03，P），03＊（X03e）和03e3种单倍组型。结论该研究获得了中国四川汉族人群Y染色体的10个SNPs位点的多态性频率分布及其构建的9种单倍组型，为Y-SNPs做为法医遗传学个人识别和亲子鉴定的遗传标记奠定了基础。

Objective To evaluate the forensic utility of Y-single nucleotide polymorphisms （SNPs） markers. Methods Allele-specific PCR, restriction enzyme digestion or direct PCR were performed to examine 10 different SNP loci on Y chromosome, namely M9, M15, M45, M89, M95, M122, M134, M145, M173 and P25 in 161 Chinese Han males. Results A total of 8 of the 10 SNPs are reported to be polymorphic in Chinese. The gene diversity for the loci showing polymorphism ranged from 0. 988/0. 012-0. 752/0. 248, with a power of discrimination 0. 094-0. 373. Loci M122 and M134 were the most polymorphic markers in Chinese Hans. Nine different haplogroups with frequencies from 1.2% to 51.6% were observed and 3 of the haplogroups-K ＊ （x O2a, O3, P）, O3 ＊ （x O3e） and O3e were found in 75.2% of Chinese Hans. Conclusion A comprehensive gene diversity data of Y chromosome and haplogroups were obtained in Sichuan Han population, which will be served as the base for using these Y-SNP markers in forensic medicine and individual identification in Sichuan Hans.