皖南地区汉族人群21号染色体上3个STR位点的多态性分析  

Genetic polymorphism at 3 STR loci on chromosome 21 in Chinese Han population from south Anhui areas

作　　者：何淑凤[1,2] 李慧[2] 李铁臣[2] 孙青[1] 

机构地区：[1]皖南医学院附属弋矶山医院妇产科,安徽芜湖241001 [2]皖南医学院分子生物学研究室,安徽芜湖241002

出　　处：《皖南医学院学报》2012年第5期357-360,共4页Journal of Wannan Medical College

基　　金：芜湖市科技计划重点项目(2008728)

摘　　要：目的:研究人类短串联重复序列D21S11、D21S1409和D21S1414在唐氏综合征基因诊断中的应用;比较聚丙烯酰胺凝胶电泳及银染分型技术与毛细血管电泳STR分型技术对同样标本分型的差异性。方法:采用聚合酶链反应、毛细血管电泳技术和非变性聚丙烯酰胺凝胶电泳技术对100例皖南地区汉族无亲缘关系的个体DNA样本进行STR分型。结果:D21S11、D21S1409和D21S1414在安徽皖南地区人群中的观察杂合度分别为:0.7600、0.6600和0.7800。结论:D21S11和D21S1414位点杂合度高,可以作为皖南地区唐氏综合征产前诊断的筛查位点,D21S1409可以作为唐氏综合征产前诊断的辅助筛查位点。毛细血管电泳分型技术在STR分型中较聚丙烯酰胺凝胶电泳技术准确性高,可以用于唐氏综合征的快速产前筛查和诊断。Objective：To evaluate the role of the three short tandem repeats（STRs）loci on chromosome 21（D21S11,D21S1409 and D21S1414） in the genetic diagnosis of Down syndrome（DS）,and compare the variability of applying polyacrylamide gel electrophoresis（PAGE）with silver staining typing technology and capillary electrophoresis for STR genotyping of the same specimens.Methods：By polymerase chain reaction（PCR）,capillary electrophoresis technology and native-PAGE,we performed the STR typing of the DNA samples from 100 subjects with no genetic relationship in Han nationality from south Anhui areas.Results：The observed heterozygosity for D21S11,D21S1409 and D21S1414 were 0.7600,0.6600 and 0.7800,respectively,for the Han population living in south Anhui areas.Conclusion：D21S11and D21S1414 STR loci can be used for screening Down syndrome in Han population from south Anhui areas due to their high heterozygosity,and D21S1409 may be as a subsidiary locus referable to prenatal diagnosis of Down syndrome.Besides,capillary electrophoresis technology has higher accuracy over PAGE in STR genotyping,which should be a reasonable option for a quick screening and diagnosis of DS.

关 键 词：短串联重复序列 STR分型 毛细血管电泳分型技术 

分 类 号：R393[医药卫生—基础医学] R714.14