TPOX基因座三个基因的检出及遗传多态性分析

研究 2个群体TPOX基因座遗传多态性及变异。应用PCR扩增、变性聚丙稀酰胺凝胶电泳结合银染技术对TPOX基因座进行检测。在 10 0例中国北方汉族及 93例南非两群体中各检出 7个等位基因 ,个人识别机率与非父排除率分别为 0 7978、 0 46 2 5和 0 914 1、 0 6 12 5。基因型频率分布符合Hardy Weinberg平衡。群体间比较结果显示 ,TPOX基因座存在明显的人种差别。另外 ,在 2个南非黑人个体中 ,各自检出了 3种TPOX基因片段 ,序列分析证实 ,它们在由特异性引物所限定的DNA片段区域内 ,除核心序列重复次数的差别外 ,其余序列完全相同。推测其是由染色体不等交换形成嵌合体所致。研究结果表明 :TPOX基因座属较高鉴别能力遗传标记 ,在法医学及人类遗传学研究中具有重要意义

Analysis of the genetic polymorphisms of the STR TPOX locus in two populations and study on three rare genes

The polymorphisms of the TPOX locus in two population were studied by PCR technique followed by the denatured PAGE and silver staining.Seven alleles were detected in each population of 100 unrelated Northern Chinese Han individuals and 93 unrelated African(Xhosa)individuals in South Africa respectively.No deviation from the Hardy Weinberg equilibrium was demonstrated.The power of discrimination(DP)and the exclusion probability(EPP)were 0 7978 and 0 4625;0 9141 and 0 6125 respectively.Comparison of gene frequency distribution showed that there is significant difference between different races.In addition,three rare genes were detected in we Africans(Xhosa)individuals.Sequencing proved that the only difference among them was the number of repeat unit in the region amplified by the specific primer pair.It might be due to the unequal exchange between chromosomes which was resulting in the production of a chimera.Our study showed that the TPOX locus has a high discriminating power which is important for the study of forensic medicine and human genetics