鲁西地区汉族人群17个Y-STR基因座多态性及法医学应用

Genetic polymorphisms of 17 Y-STR loci in Han population in the western aera of Shandong province of China

目的探讨鲁西地区汉族群体17个Y染色体短串联重复序列(Y chromosomal short repeat,Y-STR)基因座的多态性分布,探讨其法医学应用价值。方法应用AmpFLSTR?Y-filerTMPCR Amplification Kit荧光标记复合扩增试剂盒(ABI公司),对鲁西地区250名无关汉族男性个体血样DNA进行PCR扩增,用ABI3100XL遗传分析仪对扩增产物进行毛细管电泳,用GeneMapper v3.2软件进行基因分型,统计分析17个Y-STRs基因座的遗传学参数。结果 17个基因座共检测出140个等位基因,频率分布在0.0040～0.640之间,基因多样性(gene diversity,GD)分布在0.4797(DYS391)至0.9664(DYS385)之间。在250例不同的个体中,由16个基因座组成的YH系统单倍型共检出244种单倍型,其中138种单倍型出现一次,2种出现6次,累计GD值为0.9996。结论 17个Y-STRs基因座在鲁西汉族群体具有较强的个体识别能力,可用于群体遗传学及法医学研究。

Objective To investigate the genetic polymorphisms of 17 Y-chromosomal short tandem repeats（STR） loci of Han population in the western area of Shandong province and to evaluate their forensic applicability values. Methods Blood samples were collected from 250 unrelated healthy male individuals of Han population in the western area of Shandong province. 17 Y-STR loci were amplified in one tube by using AmpFLSTR Y-filerTM PCR amplification Kit,and the genotypes were determined using Genescan and Gnentype software of ABI 3100XL DNA sequencer and then the frequency of alleles and genotypes of group was obtained. Results 140 alleles were observed at 17 Y-STR loci,the frequency ranged from 0.0040 to 0.640 and the gene diversity ranged from 0.479 to 0.9664. Totally 244 different haplotypes were found and unique in 250 males,two were found in 2 individual,and the observed haplotypes diversity value was 0.9996. Conclusion 17 Y-STR loci are highly polymorphic in Han population in the western area of Shandong province and suitable for genetics and forensic research.