摘要
为分析8个多拷贝Y-STR基因座在北方汉族群体中的遗传多态性和突变率,并同其他群体进行群体间差异分析,探讨其法医学和群体遗传学研究的应用价值。采用复合扩增体系对508名北方汉族无关男性个体和156对父子的8个多拷贝Y-STR基因座进行扩增,应用ABI3730分析仪进行基因分型,采用相应软件计算基因(单倍型)频率、基因多态性和突变率并对群体间差异进行分析;北方汉族群体的8个多拷贝Y-STR基因座的基因多态性普遍较高,基因多态性在0.673 8(DYS389I)~0.968 8(DYS464)之间,共检出484个单倍型,单倍型多态性为0.9998,家系调查中共发现5次基因突变,其中,各个基因座的每代突变率在0~9.62×10~(-3)(DYS535)之间,总平均突变率为1.60×10~(-3)(95%CI 0.5-3.7×10~(-3));群体间比较显示:8个基因座的遗传多态性在群体间存在差异,遗传距离在0.001 64~0.098 02之间。北方汉族群体的8个多拷贝Y-STR基因座的基因多态性普遍较高,适合应用于法医学个体识别和亲权鉴定中。
In order to investigate the polymorphisms and mutation rates of the 8 multi-copy Y-STR loci in the Han population in Northern China, and to analyze the population comparisons with other ethnic groups, to evaluate their forensic value and population genetic value. The 8 multi-copy Y-STRs in 508 unrelated Han males and 156 father/son pairs in Northern China were amplified with the two multiplex system, and the PCR products were analyzed by the 3 730 Genetic Analyzer. The haplotype frequency, gene diversity and mutation rates were calculated by relevant statistical software. The polymorphisms of 8 multi-copy Y-STR loci in the Han population in Northern China had generally higher gene diversity value which were ranged from 0.673 8(DYS389 I) to 0.968 8(DYS464), and totally 484 haplotypes(HD=0.999 8) were observed, A total of 5 mutations were found in the pedigree survey. The mutation rate of each gene locus ranged from 0 to 9.62×10~(-3)(DYS535), and the total average mutation rate was 1.60×10~(-3)(95% CI 0.5-3.7×10~(-3)).The 8 multi-copy Y-STR loci displayed high genetic polymorphisms in the Han population in Northern China, indicating that these 8 loci were useful genetic markers for forensic personal identification and paternity testing. There were distinctions among different ethnic groups. The genetic distance are ranged from 0.001 64 to 0.098 02. The 8 Multi-copy Y-STR loci displayed high genetic polymorphisms in Han population in Northern China, and these 8 loci were useful genetic markers for forensic personal identification and paternity testing.
引文
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