因子Ⅷ基因倒位的检测与血友病甲的分子诊断  

DETECTION OF FACTOR VIII GENE INVERSIONS ANDMOLECULAR DIAGNOSIS OF HAEMOPHILIA A

作　　者：陈云弟[1] 王寅文 吴竞生 陈美珏[1] 盛敏[1] 任兆瑞[1] 曾溢滔[1] 

机构地区：[1]上海市儿童医院上海医学遗传研究所,安徽省立医院

出　　处：《中华血液学杂志》1995年第9期451-453,共3页Chinese Journal of Hematology

基　　金：国家863计划项目

摘　　要：应用Ｓｏｕｔｈｅｒｎ印迹杂交技术，分析了３６个无亲缘关系的血友病甲家系共９８名成员的凝血因子ＶＩＩＩ（ＦＶＩＩＩ）基因倒位。１２个（３３．３％）家系显示内含子２２倒位，其中１０个为远端倒位，２个为近端倒位。此１２例皆为重型患者，占全部２３例重型患者的５２．２％，证实ＦＶＩＩＩ基因倒位是中国人重型血友病甲最重要的分子缺陷。ＦＶＩＩＩ基因倒位分析既可以揭示血友病甲患者的分子缺陷，又可以直接用于血友病甲的分子诊断。total of 98 individuals in 36 unrelated haemophiliaA (HA) families were analyzed for their FVIII gene in-versions by southern blot hybridization using a probeof 0. 9 kb EcoRI/SstI fragment of plasmid p482. 6. Theresults showed that 12 families , accounting for 33. 3%of the families tested .had inversion rnutations. Ten ofthe 12 families were distal inversions resulted from ho-mologous recombinations of the FSA gene within in-tron 22 and its distal copy upstream to the FVIII gene.The other 2 were proximal inversions. These resultsindicated that the FVIII gene rearrangement was themost common molecular defect causing Chinese HAand that the analysis of intron 22 inversions should bethe first choice for the molecular diagnosis of severeHA in Chinese.

关 键 词：血友病甲 因子VIII 基因倒位 基因诊断 

分 类 号：R554.104[医药卫生—血液循环系统疾病]