Bcl Ⅰ位点在血友病A携带者检测中的应用  

Use of Bcl Ⅰ diction in screening of hemophilia A carriers

作　　者：康建民[1] 杨林花[1] 郭志萍[1] 贾红芳[2] 

机构地区：[1]山西医科大学第二医院血液科,太原030001 [2]山西医科大学第二医院内基实验室,太原030001

出　　处：《中国药物与临床》2011年第5期500-501,共2页Chinese Remedies & Clinics

基　　金：国家自然科学基金(81070412)

摘　　要：目的探索一种更简便、更特异的方法用于血友病A的基因诊断。方法采用聚合酶链反应-限制性片断多态性方法对8个血友病A家系进行BclI位点检测。结果 BclI位点杂合率为24%(4/17)。可以为其中3个血友病A家系提供诊断信息,信息率为3/8。结论 BclI位点为血友病A基因多态性遗传标志之一,用于血友病A基因诊断有较大价值。Objective To explore a much simpler and more specific method for genetic diagnosis of hemophilia A. Methods Detection of Bcl Ⅰ locus was performed in 8 hemophilia A families using polymerase chain reaction-restrict fragment length polymorphism. Results The homozygote rate was 24%（4/17） . Bcl Ⅰ locus could provide diagnostic information for 3 hemophilia A families,with the information rate being 3/8. Conclusion Bcl Ⅰ locus,one of the gene polymorphic genetic markers of hemophilia A,is of favorably great value for hemophilia A gene diagnosis.

关 键 词：血友病A BCL Ⅰ位点 杂合子检测 

分 类 号：R554.1[医药卫生—血液循环系统疾病]