中国南方汉族群体11个Y染色体-短串联重复序列基因座及单倍型遗传多态性分析

Genetic Polymorphisms of Eleven Y-chromosomal Short Tandem Repeat Loci in Southern Chinese Han Population

目的：获得11个（DYS588,DYS508,DYS576,DYS504,DYS643,DYS505,DYS461,DYS533,DYS481,DYS634,DYS607）Y染色体-短串联重复序列（STR）基因座及单倍型在中国南方汉族群体中的遗传多态性分布情况,探讨其法医学应用价值。方法：对中国南方汉族160名无关男性个体进行11个Y-STR基因座的荧光标记复合扩增;用ABI310遗传分析仪对扩增后产物进行检测;GeneScan、Genotyper软件进行基因分型。结果：11个Y-STR基因座分别检测到8、7、7、7、6、7、6、4、11、4、6个等位基因,频率分布在0.006 3-0.900 0之间。各基因座基因多样性（GD）值分布在0.189 5-0.803 1之间,以DYS481最高;160名无关男性个体共检测到155种单倍型,其中151种只出现1次,3种2次,1种3次,单倍型的GD值为0.999 5。另对45个2代父性家系调查显示同一家系成员11个Y-STR基因座单倍型一致,未观察到基因突变。结论：中国南方汉族群体11个Y-STR基因座具有较高的遗传多态性,在法医学及人类遗传学方面具有应用价值。

Objective： To study the genetic polymorphisms of 11 （DYS588, DYS508, DYS576, DYS504, DYS643, DYS505, DYS461, DYS533, DYS481, DYS634, and DYS607）Y-chromosemal short tandem repeats（ STR） loci in seuthem Chinese Han population, and to evaluate their value in forensic science. Methods. Eleven Y-STR loci were amplified by fluorescence-labeled multiplex PCR systems and analyzed by ABI310 genetic analyzer. One hundred and sixty unrelated male individuals of southern China Han population were investigated to detemaine the distribution of allele frequencies and haplotypes. Results： The aUeles（8, 7, 7, 7, 6, 7, 6, 4, 11, 4, 6）were found in thepreview 11 Y-STR loci, the frequency distributions were between 0.006 3-0.900 0, the distributions of gene diversity（GD）value were 0.189 5-0.803 1, the GD value of DYS481 was the highest. One hundred and fifty-five haplotypes were found, of which 151 were unique, 3 were found in 2 individuals, one was found in 3 individuals, and the observed haplotypes diversity value was 0.999 5. None of 11 Y-STR allele mutation was observed in the 45 father/sen pairs eonfimaed by autosemal STIR analysis. Conclusion： The data indicates the 11 Y-STR loci to be highly polymorphic and useful genetic markers in forensic science and human genetics research.