天津地区汉族群体人雄激素受体(HUMARA)基因座遗传多态性分析  

Genetic polymorphism of the HUMARA loci in Han population in Tianjin

作　　者：洪燕敏[1] 纪红[1] 张竞超[2] 董伟林[1] 井连平[1] 李敬永[2] 

机构地区：[1]天津医科大学基础医学院,天津300070 [2]天津医科大学公共卫生学院

出　　处：《中国优生与遗传杂志》2003年第5期12-14,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的　为了获得天津地区汉族群体HUMARA(人雄性激素受体 )基因座的基因频率分布资料 ,并与其他地区群体进行比较。方法　EDTA抗凝血样采自天津地区无血缘关系个体 ,TKM法提取DNA ,PCR扩增 ,聚丙烯酰胺凝胶(PAG)电泳及银染法对HUMARA基因座进行遗传多态性分布调查。结果　共检出 11个等位基因 ,HUMARA位点扩增片段分布于 2 70～ 30 0bp ,基因型频率分布符合Hardy -Weinberg平衡。该基因座在天津地区人群中的个人识别能力 (Dp)为 0 .95 35 ,杂合度 (H)为 0 .732 4 ,多信息总量 (PIC)为 0 .8184。比较天津汉族与四川汉族在HUMARA位点无统计学意义 ,而与云南白族、美国黑人、美国白人和德国人之间有显著性差异。结论　HUMARA基因座在群体遗传学研究和法医学个人识别中具有较高的应用价值。Objective: To understand the distribution of genes and genotypes of HUMARA loci in Han population in Tianjin. Methods:EDTA-blood specimens were collected from the unrelated individuals. The DNA samples were extracted with TKM method and were amplified by PCR technique. Polyacrylamide gel vertical electrophoresis followed by silver staining were used to analyze the polymorphism of HUMARA loci. Results: 11 alleles were observed. The ranges of fragment size were 270～300bp. The genotype distributions were in accordance with Hardy-Weinberg equilibrium. The discriminating power (DP), Observed heterozygosity(H) and polymorphism information content (PIC) were 0.9535,0.7324 and 0.8184 in Han population in Tianjin respectively. There is no significant difference between Han population in Tianjin and in Sichuan. But significant difference was found in comparison with Bei population in Yunnan, U.S Black, White and French Canadian. Conclusion: The results demonstrated that HUMARA locus is highly polymorphic and can be used in forensic identification and genetic research of population as well.

关 键 词：短串联重复序列 HUMARA 遗传多态性 PCR 

分 类 号：R394[医药卫生—医学遗传学]