血友病A家系因子Ⅷ基因内含子重复序列多态性的检测及分析  

Analysis and Detected the Intron Repeat Sequence of Facor Ⅷ Gene Polymorphism with Hemophilia A and Their Family Members

作　　者：郭志萍[1] 郭艳丽[2] 刘秀娥[1] 侯丽虹[1] 任景芳[1] 韩轩茂[1] 杨林花[1] 

机构地区：[1]山西医科大学第二医院血研所,太原030001 [2]华中科技大学同济医学院附属协和医院血研所,武汉430022

出　　处：《血栓与止血学》2005年第6期250-252,262,共4页Chinese Journal of Thrombosis and Hemostasis

基　　金：山西省科技厅攻关项目(0220731);山西省自然基金(20041115)资助项目。

摘　　要：目的探索一种更简便和更特异的方法,用于血友病 A 的基因诊断及其家系遗传咨询。方法提取两个血友病 A 家系中成员外周血 DNA,进行因子Ⅷ基因中内含子13(CA)n、内含子22(GT)n 和(AG)n 二核苷酸重复序列多态性分析。结果通过对内含子13和内含子22的两个 STR 位点的检测,两个家系均检出携带者。结论凝血因子Ⅷ基因中内含子重复序列是血友病 A 高多态性遗传标志之一,用于血友病 A 家系分析有较大的实用价值。Objective To find out a simple and specific method ior genetic diagnosis ot hemophilia A and identification of carriers. Methods The genomic DNA was isolated from the peripheral blood of two patients with hemophilia A and their family members. The intron 13 of factor Ⅷ gene was analyzed to detect the （CA） n repeat sequence and the intron 22 to detect the （GT）n and （AG）n repeat sequence. Results The carriers of two families were detected by STR within intron 13 and 22. Conclusion The microsatellite repeat is a high polymorphic inheritance marker for carrier detection and prenatal diagnosis of hemophilia A.

关 键 词：血友病A 因子Ⅷ 多态性 

分 类 号：R554.1[医药卫生—血液循环系统疾病]