中国藏族群体TH01和VWA STR基因座的遗传多态性

GENETIC POLYMORPHISMS OF TH01 AND VWA LOCI IN TIBETANS IN CHINA

目的了解中国藏族群体与汉族群体的遗传亲缘关系，获得藏族群体ＴＨ０１和ＶＷＡ基因座的群体遗传数据。方法ＥＤＴＡ抗凝血样采自８９名无血缘关系藏族个体，Ｃｈｅｌｅｘ法提取ＤＮＡ，ＰＣＲ扩增样本ＤＮＡ后，聚丙烯酰胺凝胶水平电泳分型。结果在西藏藏族群体中，ＴＨ０１基因座存在５个等位基因，等位基因频率为ＴＨ０１＊６：０．０９７、ＴＨ０１＊７：０．２２７、ＴＨ０１＊８：０．０９１、ＴＨ０１＊９：０．４８１及ＴＨ０１＊９．３：０．１０４，基因型分布符合Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ平衡（χ２＝７．４２１ｄｆ＝８Ｐ＞０．０５）；ＶＷＡ基因座存在７个等位基因，等位基因频率为ＶＷＡ＊１４：０．１０１、ＶＷＡ＊１５：０．０３４、ＶＷＡ＊１６：０．２０８、ＶＷＡ＊１７：０．３０３、ＶＷＡ＊１８：０．２０８、ＶＷＡ＊１９：０．１２９及ＶＷＡ＊２０：０．０１７，基因型分布符合Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ平衡（χ２＝１９．６１ｄｆ＝１４Ｐ＞０．０５）；藏族和汉族的遗传距离为０．０３４，类似于欧洲群体间的遗传距离。结论西藏藏族两个ＳＴＲ基因座基因频率分布与汉族无显著差异。

Objective To understand the genetic relationship between Han population and Tibetan population, the genetic polymorphisms of two STR loci, TH01 and VWA were studied in the Tibetans in China.Methods EDTA blood specimens were collected from 89 healthy unrelated Tibetan individuals in Lasa. DNA was extracted using Chelex method. The DNA samples were amplified by PCR technique, and the PAGE horizontal electrophoresis were used to typing the PCR products.Results There were five alleles at TH01 locus in Tibetan population.The allels frequencies were TH01*6:0.097,TH01*7:0.227;TH01*8:0.091,TH01*9:0.481 and TH01*9.3:0.104. A total of 12 genotypes were observed in 77 individuals for TH01.For VWA locus there were seven alleles and the allele frequencies were VWA*14:0.101,VWA*15:0 034,VWA*16:0 208,VWA*17:0 303,VWA*18:0 208,VWA*19:0 129 and VWA*20:0 017. A total of 20 genotypes for VWA were observed in 89 individuals. The results of test for Hardy Weinberg equilibrium showed that the genotype distributions observed at both STR loci were correspondent with those expected( χ 2=7 421 df=8 P >0 05 for TH01; χ 2=19 61 df=14 P >0 05 for VWA).Conclusion There is no significant difference between Han and Tibetan populations in allele frequencies at TH01 and VWA loci. The results of analysis using genetic distance and phylogenetic tree indicate that Tibetan population is identical with Han population at TH01 and VWA loci.