5个五核苷酸Y-STR基因座在河南汉族群体中的遗传多态性

Genetic polymorphism of five pentanucleotide Y-STR markers in Henan Han population

目的:调查Y染色体上5个五核苷酸Y-STR基因座DYS446、DYS447、DYS463、DYS588和DYS643在河南汉族群体中的遗传多态性,评价其法医学应用价值。方法:收集403名河南汉族无关男性个体血样,检测上述5个基因座,进行等位基因分型及遗传统计分析。结果:5个Y-STR基因座分别检出了11、9、7、9和6个等位基因,其中DYS446和DYS447基因多样性(GD)达0.815 14和0.843 96,DYS463和DYS643的GD达0.777 18和0.720 60。共检测到311种单体型,其中261种单体型仅出现1次,个体识别力(DP)和单体型多样性(HD)分别为0.995 45和0.997 93,单体型辨别能力(DC)为0.771 71。结论:5个基因座组成的单体型在河南汉族群体中具有较高的遗传多态性,对于法医学实践应用和人类遗传学研究具有重要意义。

Aim： To investigate the genetic polymorphism of five pentanucleotide Y-STR loci（ DYS446,DYS447,DYS463,DYS588 and DYS643） in Henan Han population and to assess their value in forensic science. Methods： A total of 403 unrelated males from Henan Han population were subjected to detect and analyze the five loci mentioned above. Results： There were 11,9,7,9 and 6 alleles were detected for the five loci,respectively. The gene diversity of DYS446,DYS447,DYS463,and DYS643 was 0. 815 14,0. 843 96,0. 777 18 and 0. 720 60,respectively. A total of 311 haplotypes were found,among which 261 haplotypes were detected only once. The haplotype diversity,discrimination power and discrimination capacity were 0. 997 93,0. 995 45 and 0. 771 71,respectively. Conclusion： The haplotype composed of the five pentanucleotide loci were highly polymorphic in Henan Han population,and is of great significance in forensic science and human genetics studies.