中国四川汉族人群Y染色体单核苷酸多态性分析

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*(XO2a,O3,P),O3*(XO3e)和O3e 3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.

Analysis of Y-chromosomal biallelic potymorphisms in Sichuan Han of Chinese population

Objective To evaluate the forensic utility of Y-single nucleotide polymorphisms(SNPs) markers.Methods Allele-specffic 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 SNIPs are reported to be polymorphic in Chincse.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 02a,03,P),03 *(x 03e) and 03e 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.