中国汉族人群vWF基因Msp Ⅰ和Rsa Ⅰ限制性片段长度多态性研究  

Msp Ⅰand RsaⅠ RFLPs of vWF gene in Chinese Han people

作　　者：李震宇[1,2,3] 万海英[1,2,3] 台虹 王泳[1,2,3] 王迎春 宋建新[1,2,3] 阮长耿 

机构地区：[1]苏州医学院附属第一医院 [2]江苏省血液研究所血栓与止血研究室 [3]云南省人民医院检验科血液室

出　　处：《中华血液学杂志》1998年第3期115-117,共3页Chinese Journal of Hematology

基　　金：国家自然科学基金

摘　　要：目的：研究我国汉族人群ｖＷＦ基因的多态性特点。方法：应用聚合酶链反应（ＰＣＲ）技术结合ＭｓｐⅠ和ＲｓａⅠ酶切分析研究了５２名汉族人１０４条染色体ｖＷＦ基因ＭｓｐⅠ限制性片段长度多态性（ＲＦＬＰ）和４８名汉族人９６条染色体的ＲｓａⅠＲＦＬＰ。结果：在我国汉族人中，等位基因ＭｓｐⅠ＋／ＭｓｐⅠ－的频率为０．２０∶０．８０，理论杂合频率为３６％；ＲｓａⅠ＋／ＲｓａⅠ－的频率为０．９３∶０．０７，理论杂合频率为１３％。结论：在我国汉族人中，在ｖＷＦ基因的５′端存在ＭｓｐⅠ和ＲｓａⅠ的多态性位点，可用于血管性血友病的遗传咨询和产前诊断。Objective:To study the MspⅠ and Rsa Ⅰrestriction fragment length polymorphisms(RFLPs) in the 5′ region of human von Willebrand factor gene in Chinese Han people.Methods:A 226 bp amplified fragment of human vWF gene from 52 unrelated individuals and a 322 bp amplified fragment from 48 individuals were analyzed by MspⅠor RsaⅠdigestion.Results:Complete linkage disequilibrium was observed at both Msp Ⅰand RsaⅠsites in vWF gene in Chinese Han people.The frequencies at the two sites were 0.20/0.80 for MspⅠ +/MspⅠ - and 0.93/0.07 for RsaⅠ +/RsaⅠ -.The theoretical heterozygous rates were 36% and 10%, respectively.Conclusion:The Msp Ⅰ and RsaⅠRELPs of vWF gene are useful for genetic counseling and prenatal diagnosis of vWD in Chinese Han people.

关 键 词：血管性血友病 VWF基因 RFLP 血友病 基因多态性 

分 类 号：R554.102[医药卫生—血液循环系统疾病]