国人St14(DXS52)VNTR及其对血友病甲基因诊断价值的探讨  

St14(DXS 52)Vntr in Chin ese Population and its Application to Gene Diagnosis of hemophilia A

作　　者：王晓冬 储小红[1,2] 阮长耿[1,2] 

机构地区：[1]江苏省血液研究所 [2]苏州医学院血栓与止血研究室

出　　处：《苏州医学院学报》1996年第1期38-40,52+199,共3页Acta Academiae Medicinae Suzhou

基　　金：江苏省卫生厅资助课题

摘　　要：应用聚合酶链反应(PCR)对56名健康国人的78条 X 染色体 St14(DXS52)可变数目串联重复序列(VNTR)研究结果显示,在国人群中至少存在700bp(60.3%),1220(1.3%),1300(2.6%),1390(11.5%),1570(12.8),1630(6.4%),1690(5.1%)等等位基因。总理论杂合子检出率为60%。该 VNTR 低分子量片段的等位基因频率比白种人明显升高,高分子量片段的等位基因频率则相对下降。用该 VNTR 对14例血友病甲可疑携带者分析显示,半数呈杂合子。提示该多态性对血友病甲的基因诊断有一定的应用价值。By use of polymerase chain reaction(PCR),the St14(DXS52)variable number tandom repeats (VNTR)on X chromosome was analyzed among chinese.The study of 78 Xchromosones from 56 normal chinese subjects revealed that at least 7 different alleles exist among chinese.They are 700bp (60.3%),1220(1.3%),1300(2.6%),1390(11.5%),1570(12.8%),1630(6.4%)and 1690 (5.1%).The total theoretical heterozygous rate is 60%.Among the 22 normal femals studied 5 are heterozygous in 22.7%.Compared with that of caucasions,the VNTR among chinese has markely higher frequency in low molecular products,and relatively lower frequency in high molecular weiht products.Detection of the YNTR among 14 prospective hemophilia A carriers reveals that half of them are heterozygous,suggesting that this polymorphism is useful in gene diagnosis of hemophilia A

关 键 词：血友病甲 基因诊断 

分 类 号：R554.104[医药卫生—血液循环系统疾病]