广东汉族人群St14(DXS52)VNTR与血友病A携带者的检测  

The St14(DXS 52)VNTR in a Guangdong Han population and detection of hemophilia A carriers

作　　者：马爱华[1] 曾瑞萍[1] 贺奇才[2] 

机构地区：[1]中山医科大学医学遗传教研室,广州510089 [2]中山医科大学物理教研室

出　　处：《中华血液学杂志》2000年第7期362-365,共4页Chinese Journal of Hematology

基　　金：美国中华医学基金会(CMB)资助

摘　　要：目的　研究广东正常人群St14(DXS5 2 )位点的遗传多态性 ,为血友病A的基因诊断提供依据。方法　采用扩增片段长度多态性 (Amp FLP)分析技术 ,检测了广东地区无血缘关系的正常汉族个体 12 5名 ,男 2 1名 ,女 10 4名 ,总计 2 2 9条X染色体。利用此数目可变串联重复序列 (VNTR)多态作为遗传标记 ,对 4个血友病A家系进行连锁分析。结果　共检出 11种等位片段 ,其片段大小为 70 0～1810bp ,基因频率分布为 0 .0 0 44～ 0 .480 3。在该群体的男性个体中观察到 7种基因型 ,女性个体中观察到 17种基因型 ,观察杂合度为 0 .432 ,多态信息含量为 0 .7335。研究的 4个家系中 2个有诊断信息 ,在 1个家系中确定了 2名女性为正常人 ,而非携带者 ;在另 1个家系中检出 1名女性携带者。结论　St14(DXS5 2 )位点VNTR多态是对华南地区血友病A携带者检测有一定应用价值的遗传标记 ,并与欧洲白种人群间存在差异性。Objective To investigate the genetic polymorphism of the St14(DXS 52) variable number tandem repeat (VNTR) in normal individuals in Guangdong, and to evaluate the efficacy of this marker for the gene diagnosis of hemophilia A. Methods 125 unrelated healthy individuals (male 21, female 104) and 4 hemophilia A families were detected using amplified fragment length polymorphism (Amp FLP). Results 11 allelic fragments ranging from 700 to 1?810?bp in size and 7 different genotypes in males,17 different genotypes in females were observed, respectively. The allele frequencies were 0.004?4 to 0.480?3. The polymorphism information contents (PIC) was 0.733?5, and the heterozygosity was 0.432. Four families with hemophilia A were analyzed and 2 of them were informative for linkage analysis. In one family, 2 females were determined to be normal individuals, not carriers, one female carrier was detected in the other family. Conclusion St14(DXS 52) was a useful polymorphism marker for carrier detection of hemophilia A in southern Chinese population, and it was different from those in Caucasian.

关 键 词：St14(DXS52) 血友病A 汉族人群 VNTRe 

分 类 号：R554.1[医药卫生—血液循环系统疾病]