重庆汉族、土家族人群3个Y-STR基因座遗传多态性

Genetic polymorphism of 3 Y-STR loci in Chongqing Han and Tujia population

目的:研究重庆汉族、土家族人群无关个体的GATA-A7.2、GATA-C4、DYS437基因座的遗传多态性。方法:重庆汉族男性115人,女性15人,土家族男性120人,女性15人无关个体血样,用Chelex法提取DNA,对2个群体的3个Y-STR基因座进行PCR扩增,变性聚丙烯酰胺凝胶连续缓冲垂直电泳,银染分型。用直接计数法计算基因频率、基因型频率,计算3个基因座的基因变异度(Gene diversity,GD)值和单倍体变异度(Haplotype diversity,HD)值,并比较2个群体等位基因分布特点。结果:GATA-A7.2、GATA-C4、DYS437基因座分别检出5、5、3个等位基因,GD分别为0.697 9/0.714 1(汉族/土家族)、0.720 2/0.700 1、0.511 2/0.495 7。共检出44种单倍型的HD汉族为0.955 6,土家族为0.953 2。所有女性样本在3个位点均无PCR扩增产物,表明3个基因座是Y染色体特异性的STR基因座,X染色体不存在同源序列。结论:这3个基因座适合于法医学个人识别和亲子鉴定,为法医学应用提供了新的可选Y-STR遗传标记。

Objective： To investigate genetic polymorphism of three Y Chromosome short tandem repeat（Y-STR） loci（GATA-A7.2、GATA-C4、DYS437） in Chongqing Han and Tujia population.Methods： This study based on Han male gender 115,female gender 15,Tujia male gender 120,female gender 15 unrelated individual blood samples.DNA was extracted with Chelex method.Each DNA sample was amplified using PCR for GATA-A7.2,GATA-C4 and DYS437 locus.The PCR products of three Y-STR loci were analyzed by denaturing vertical polyacrylaminde gel electrophoresis with continuous buffer system, genotyping with silver stain method. Use direct counting method to calculate allele and genotype frequency, calculate gene diversity（ GD ）/haplotype diversity（ HD ） of three loci and compare two nationalities allele distribution feature. Results： We observed 5,5,3 alleles in locus GATA-A7.2,GATA-C4,DYS437 respectively, the GD values are 0.697 9/0.714 1,0.720 2/0.700 1,0.511 2/0.495 7 （HardTu j ia）. 44 haplotypes were found, the HD for the three Y-STR loci was 0.955 6 in Han and 0.953 2 in Tujia. There were no PCR products of three Y-STR loci for the female individual, it indicated that the three loci were specifically for the chromosome Y and there were no their homologous sequences on the chromosome X. Conclusion：It was suggested that GATA-A7.2, GATA-C4 and DYS437 locus are suitable for individual identification and paternity testing, and they provide new selectable STR markers for chromosome Y haplotype in forensic application.