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目的调查Y染色体特异基因座DYS438、DYS439、GATAA7.1、GATAA7.2的遗传多态性在河北汉族人群中的分布。方法应用聚合酶链反应及8%变性聚丙烯酰胺凝胶电泳分离扩增产物结合银染显带技术,对DYS438、DYS439、GATAA7.1、GATAA7.2基因座进行调查。结果DYS438、DYS439、GATAA7.1、GATAA7.2基因座分别检出4、5、5、4种等位基因,基因频率分布分别为0.0359～0.6587、0.0179～0.4107、0.0122～0.4146、0.0476～0.5238,个人识别率分别为0.5121、0.6811、0.6679和0.6327;上述4个基因座组成的单倍型在164名无关男性中共观察到70种,其中有36种仅出现一次,单倍型的个人识别机率达0.9480,家系调查符合单倍型父系遗传方式。结论DYS438、DYS439、GATAA7.1、GATAA7.2基因座个人识别机率高,属较高鉴别能力的遗传标记系统,且具有明显的人群分布差异,在法医学及人类遗传学研究中具有重要的应用价值。
Objective To investigate the distribution of genetic polymorphisms of Y chromosome-specific loci DYS438, DYS439, GATAA7.1 and GATAA7.2 in Hebei Han population. Methods The DYS438, DYS439, GATAA7.1 and GATAA7.2 loci were investigated by polymerase chain reaction and 8% denatured polyacrylamide gel electrophoresis. Results Four, four, five and four alleles were detected in DYS438, DYS439, GATAA7.1 and GATAA7.2 loci, respectively. The frequencies of the genes were 0.0359-0.66587, 0.0179-0.4107, 0.0122-0.4146 and 0.0476-0.5238, The personal identification rates were 0.5121,0.6811,0.6679 and 0.6327 respectively. The haplotypes of the above four loci observed 70 species in 164 unrelated males, of which 36 species appeared only once. The haplotype personal identification probability reached 0.9480, pedigree investigation consistent with haplotype paternal inheritance. Conclusion The DYS438, DYS439, GATAA7.1 and GATAA7.2 loci have a high probability of personal identification and belong to the genetic marker system with higher discrimination ability and have obvious population distribution differences. They have important application value in forensic and human genetics research .