湖北汉族群体8个短串联重复序列位点遗传多态性分析  

Analysis of genetic polymorphisms of eight STR loci in Hubei Han population

作　　者：李霞[1] 周新[1] 李杰[1] 贺小玲[1] 刘芳[1] 郑芳[1] 

机构地区：[1]武汉大学中南医院基因诊断中心,武汉430071

出　　处：《基础医学与临床》2003年第2期186-190,共5页Basic and Clinical Medicine

摘　　要：为了解中国汉族人短串联重复序列 (STR)位点的遗传多态性分布 ,选取了 8个STR位点 :vWA31A、THOI、TPOX、F13A0 1、FES、D5S818、D7S82 0和D13S317,采用Chelex法从 10 2名无血缘关系的汉族个体血液中提取DNA ,应用STR -聚合酶链反应 (polymerasechainreaction ,PCR)扩增 ,变性聚丙烯酰胺凝胶电泳分离 ,银染法显影技术 ,对汉族人群上述 8个位点进行遗传多态性调查。结果 :8个STR位点基因型观察数 12～ 2 1个 ,等位片段数 6～ 8个 ,多态信息含量介于 0 5 5 2 0～ 0 785 5之间 ,个人识别概率介于 0 790 5～ 0 9318之间 ,其中 6个STR位点在中国汉族人群中的等位基因频率分布与白色人种、黑色人种之间均具有显著差异。结果表明 :8个STR位点的基因型分布均符合Hardy Weinberg平衡 。This study was designed to study the genetic polymorphism at eight STR loci in Chinese Han population. 8 STR loci were selected: vWA31A?THOI?TPOX?F13A01?FES?D5S818?D7S820 and D13S317. The DNA samples were extracted with Chelex method and then amplified by STR PCR. By denaturing PAGE and silver stain, we examined the distribution of allele frequencies of these 8 STR loci in Han population. Results: the number of genotypes and alleles at these 8 STR loci were 12～21 and 6～8 respectively. The polymorphism information content and discrimination power were 0.5520～0.7855 and 0.7905～0.9318 respectively. Significant differences were observed concerning the six loci when comparing the Chinese Han population data with that of U.S. Caucasian and of African American. The results suggested that the allele distribution of these 8 STR loci was in the same way with the Hardy Weinberg equilibrium. The obtained data are important for understanding the population genetics of the 8 STR loci in Chinese Han population.

关 键 词：短串联重复序列 位点 遗传多态性 湖北 汉族群体 中国汉族 

分 类 号：R394[医药卫生—医学遗传学]