【摘要】 目的调查Y-filer检测系统中17个Y-STR基因座在广东汉族中的多态性及遗传稳定性,研究其法医学应用效能。方法应用Y-filer检验体系对广东汉族1000个男性无关个体及1000对确定亲子关系的父子进行Y-STR分型,计算17个Y-STR基因座的的单倍型频率,对发生突变的基因座进行单基因座扩增和测序验证后计算突变率。结果 1000个广东男性无关个体中没有发现相同的单倍型,单倍型多样性达到1.0000,17个Y-STR基因座的基因多样性值在0.4285(DYS391)~0.9654(DYS385a/b)之间。1000对父子17个基因座共观察17 000次减数分裂,共发现46次突变,平均突变率为0.0027(95%CI,0.0020~0.0036)。结论 Y-filer检测系统在广东汉族人群中具有高度多态性,在父权鉴定、个体识别等法医学应用中具有重要价值。更多还原

【Abstract】 ve: Objective To investigate the polymorphisms of 17 Y-STR loci in Han population in Guangdong Province and explore its application in forensic medicine.Method Seventeen Y-STR loci(DYS19,DYS385a/b,DYS635,DYS389I,DYS389II,DYS390,DYS391,DYS392,DYS393,DYS437,DYS438,DYS439,DYS448,DYS456,DYS458,Y-GATA-H4) were analyzed using Y filerTM kit in 1000 unrelated individuals and 1000 DNA-confirmed father-son pairs.All mutations were confirmed by DNA sequence analysis.Results No shared haplotypes were observed among the 1000 unrelated male individuals,and the gene diversity of 17 Y-STR loci ranged from 0.4285(DYS391) to 0.9654(DYS385a/b).The samples yielded an overall haplotype diversity of 1.000.A total of 17000 meiotic events were investigated in 1000 father-son pairs with DNA-confirmed biological paternity and 46 differences were observed between the fathers and sons.The average mutation rate was 0.0027(95% CI,0.0020-0.0036) per locus.Conclusion The 17 Y-STR loci included in Y-filer have high genetic polymorphisms in South China Han population and have good prospect for application in forensic medicine.更多还原