凝血因子Ⅶ C329G突变导致遗传性凝血因子Ⅶ缺乏症  

Coagulation factor Ⅶ C329G mutation could cause hereditary factor Ⅶ deficiency

作　　者：洪国粦[1] 连云宗[2] 李极品[3] 徐元斌[3] 吴玉水[3] 

机构地区：[1]福建医科大学附属第一医院检验科,福建福州350005 [2]泉州市第一医院检验科 [3]南京军区福州总医院全军医学检验中心

出　　处：《中国实验诊断学》2008年第11期1358-1360,共3页Chinese Journal of Laboratory Diagnosis

摘　　要：目的探讨遗传性凝血因子Ⅶ缺乏症发病的分子机制。方法将野生型和C329G突变型的FⅦ真核表达载体转染BHK-21细胞进行体外表达,并对表达产物进行免疫学和凝血活性检测。结果FⅦC329G突变后,其蛋白的合成和分泌不受影响,突变型与野生型FⅦ的表达量相近,但突变型FⅦ无凝血活性。结论FⅦ第329位的半胱氨酸对其凝血活性功能起关键作用。当它被甘氨酸替换后,即丧失其凝血活性,此为FⅦC329G突变导致遗传性凝血因子Ⅶ缺乏症发病的分子机制。Objective Aim To elucidate the molecular mechanism of hereditary coagulation factor Ⅶ deficiency. Methods The FⅦ C329G mutagenized mid wild-type expression vector were transfected into BHK cell for expression. The expression products were detected by Western-blot and coagulation assay.Results The expression and secretion of the muant FⅦ were not affected.A similar protein expressing level were obscrved both in the mu .tant and wild-type of FⅦ expression vector, but the mutant FⅦ showed undetectable coagulation activity. Conclusion The mutant FⅦ C329G, resulting failure in forming of a disulphul bond between glysine329 and eystein-310, disrupts the normal cornformation of FⅦ and leads the loss of coagulation funcfion.This is the molecular mechanism of hereditary, coagulation factor Ⅶ deficiency caused by FⅦ C329C mutant.

关 键 词：凝血因子Ⅶ缺乏症 凝血因子Ⅶ F7基因 突变 表达 

分 类 号：R559[医药卫生—血液循环系统疾病]