广东汉族人群24个Y-S TR基因座多态性及法医学应用

摘要

目的：调查24个Y染色体上的短串联重复序列（Y-STR）基因座在广东汉族无关男性个体中的多态性，研究AGCU Y24检验体系在法医学的应用价值。方法应用AGCU Y24 STR荧光检测试剂盒（DYS391、DYS389I／II、DYS439、DYS438、DYS449、DYS456、DYS458、DYS437、DYS635、 DYS448、 DYS527a／b、 Y＿GATA＿H4、 DYS447、 DYS19、 DYS392、 DYS522、 DYS393、DYS388、DYS390、DYS385a／b、DYS444）对广东汉族800个无关男性个体进行Y-STR分型，调查其多态性，并对其分型准确性、灵敏度、混合样本、男性特异性、种属特异性进行评估。结果800个广东汉族男性无关个体中观察到基因座共发现192个等位基因，794种单倍型，且均为唯一单倍型，各基因座的基因多样性值在0．4286（DYS438）～0．9605（DYS385a／b）之间。24个Y-STR基因座的单倍型多样性值为0．999981，系统识别能力值为0．992500。该体系检测最低阈值为0．125 ng，24个Y-STR基因座具有高度男性特异性，分型不受女性成分干扰。结论 AGCU Y24检验体系在广东汉族人群中具有高度多态性，在父权鉴定、个体识别、群体遗传分析等方面具有良好的应用前景。%[Abstractive] Objective To investigate the polymorphisms of 24 Y-STR loci in Han population from Guangdong Province and explore its application in forensic medicine. Methods Twenty-four Y-STR loci (DYS391,DYS389I/II,DYS439,DYS438,DYS449,DYS456,DYS458,DYS437,DYS635,DYS448, DYS527a/b, Y_GATA_H4、DYS447, DYS19, DYS392, DYS522, DYS393, DYS388, DYS390, DYS385a/b and DYS444)in 800 unrelated male Han individuals from Guangdong were genotyped using AGCU kit. The genotyping accuracy,sensitivity,mixed samples,male and population specificity were evaluated. Re-sults Among 800 subjects,192 alleles were observed,and 794 haplotypes were detected. The gene diversity of 24 Y-STR loci ranged from 0. 4286 (DYS438)to 0. 9605 (DYS385a/b). The overall haplotype diversity was 0. 999981 and the discrimination capacity was 0. 992500. The sensitivity of this test was 0. 125 ng. Twen-ty-four Y-STR loci were highly specific to males and the genotyping was not influenced by female individuals. Conclusions The 24 Y-STR loci included in AGCU kit have highly genetic polymorphisms in South China and present with promising prospect for application in paternity identification and population genetic analysis.