中国汉族群体和德国群体FES基因座的遗传多态性研究  

Genetic polymorphism at FES locus in Chinese and German populations

作　　者：吴谨[1] 侯一平[1] 李英碧[1] 

机构地区：[1]华西医科大学法医学系

出　　处：《中华医学遗传学杂志》1999年第3期167-170,共4页Chinese Journal of Medical Genetics

基　　金：四川省重点科研项目

摘　　要：目的了解中国汉族群体与德国群体人类ｃ－ｆｅｓ／ｆｐｓ原癌基因座（ＦＥＳ）的遗传多态性，获得中国汉族和德国群体ＦＥＳ基因座的群体遗传数据。方法ＥＤＴＡ抗凝血样采自３１１名无血缘关系的中国汉族个体和１２３名无血缘关系的德国个体。Ｃｈｅｌｅｘ法提取ＤＮＡ。ＰＣＲ扩增样本ＤＮＡ，聚丙烯酰胺凝胶水平电泳分型，自动激光荧光测序仪测定ＤＮＡ序列。结果在中国汉族群体中ＦＥＳ基因座存在９个等位基因，等位基因频率均以ＦＥＳ＊１１为最高，ＦＥＳ＊１２和ＦＥＳ＊１３较高。发现德国群体中ＦＥＳ基因座５′端第３４碱基存在Ｃ替换Ａ的变异。共存在９个等位基因，等位基因频率以ＦＥＳ＊１１为最高，ＦＥＳ＊１０ａ和ＦＥＳ＊１２较高。中国汉族群体和德国群体基因型分布均符合Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ平衡。结论３个汉族群体之间比较基因频率无显著性差异。３个中国汉族群体与德国群体比较基因频率差异显著。Objective The aim of this study on the genetic polymorphism at FES locus was to know whether there is genetic relationship between Chinese and German populations. Methods EDTAblood specimens were collected from 311 healthy unrelated Han individuals in Jilin, Chengdu and Guangzhou in China and from 123 healthy unrelated individuals in Germany. The DNA samples were extracted using Chelex method and amplified by PCR technique. The PAGE horizontal electrophoresis was used for typing the PCR product. DNA sequences were analyzed by ALF. Results There were nine alleles at FES locus in the Chinese population.The allele frequencies were FES*6, 00.0051;FES*8, 00.0042; FES*9, 000830.0202; FES*10, 0.02020.0604; FES*11, 0.40660.5101; FES*12, 0.24240.3099; FES*13, 0.18600.2198; FES*14, 0.00410.0165; and FES*15, 00.0050, respectively. In the German population, a variation in 5 flanking region and nine alleles at FES locus were noted. The allele frequencies were FES*8, 0.0120; FES*10a, 0.02317; FES*10,0.0407; FES*11a, 0.0122; FES*11, 0.4146; FES*12a, 0.0041; FES*12, 0.2357; FES*13, 0.0447; and FES*14, 0.0041 respectively. The results of test for HardyWeinberg equilibrium showed that the genotype distributions observed in the populations were correspondent with the expected. HZ]Conclusion There is a remarkable difference in the distribution of allele frequencies at FES locus between Chinese and German populations.

关 键 词：遗传多态性 汉族 群体 PCR 德国 FES基因座 中国 

分 类 号：Q347[生物学—遗传学] Q346.5