【摘要】 目的:检测凝血因子VIII基因倒位,提高对重型血友病A患者及其携带者的诊断水平。方法:根据患者的出血症状及遗传史,采用国际通用的一期法检测患者血浆凝血因子VIII活性(FVIII:C),ELISA法检测血浆vWF:Ag浓度,确诊血友病A及其携带者;对38例重型HA患者及其母亲或姨母,采用长距离DNA扩增(LD-PCR)技术检测是否存在凝血因子VIII(FVIII)基因倒位,进行直接基因诊断。结果:38例无亲缘关系的重型血友病A患者中,发现15例患者(或家系)有FVIII基因倒位,占重型患者的41%;该15个家系中查出基因倒位携带者5名。结论:利用LD-PCR检测FVIII基因倒位技术可以准确、简便而快速地直接进行重型血友病A的基因诊断和携带者检测。更多还原

【Abstract】 Objective:To improve the skills of diagnosing severe hemophilia A(HA)and the carriers of the disease by detection of coagulation factor VIII(FVIII)gene inversion.Methods:Patients were di agnosed as suffering from se vere HA according to their bleeding symptom s and hereditary feature s,the plasma coagula tion factor VIII activity(FVIII:C)was detected by one-stage method,and the con centration of von Willbrand Factor antigen(vWF:Ag)was determined by ELISA.All of the38severe HA patients,and their mothers or aunts were detected for factor VIII gene inversion by using long distance poly merase chain reaction(LD-PCR).Results:15out of the38cases were found to have factor VIII gene inversion,accounting for41%of the total number of severe HA,and5cases with factor VIII gene inversion were di agnosed in the families of the15carriers.Con-clusion:LD-PCR technique used to detect factor VI II gene in version can conveniently,rapidly and accurately help to make direct diagnosis of severe HA and to tetermine severe HA th eir carriers.更多还原