长距离PCR检测重型血友病A病人凝血因子Ⅷ基因倒位  

Long Distance-PCR for Detection of Factor Ⅷ Gene Inversion in Patients with Severe Hemophilia A

作　　者：丁培芳[1] 孙汶生[1] 王勤友 刘德春[2] 张雪芹[2] 滕彬[2] 申法奎 

机构地区：[1]山东大学医学院,济南250012 [2]山东省血液中心,济南250014

出　　处：《中国实验血液学杂志》2003年第4期390-392,共3页Journal of Experimental Hematology

基　　金：山东省卫生厅青年基金 (编号 2 0 0 1CA2DMA1);山东省自然基金 (编号Y2 0 0 2C0 2 )资助课题

摘　　要：为了筛查山东省重型血友病A(hemophiliaA ,HA)凝血因子Ⅷ基因倒位的患者并检出携带者 ,采用长距离DNA扩增 (LD PCR)方法 ,以 0 .6 %琼脂糖凝胶电泳技术 ,检测临床上确诊的 5 5例重型HA患者及其家系成员中是否存在凝血因子Ⅷ (FⅧ )基因倒位。电泳出现 11kb带 ,示凝血因子Ⅷ基因倒位 ;12kb带 ,示非倒位 ;这两条带同时出现者为凝血因子Ⅷ基因倒位携带者。结果表明 :5 5例无亲缘关系的重型HA患者中 ,发现 2 2例患者 (或家系成员 )有凝血因子Ⅷ基因倒位 ,占重型HA患者的 4 0 % ;15个家系中查出基因倒位携带者 5名。结论 :运用LD PCR技术可以准确、简便、快速地检测重型血友病A患者是否存在凝血因子Ⅷ基因倒位。The aim of current study was to detect intron 22 inversion of factor Ⅷ gene in severe hemophilia A (HA) patients and screen the carriers of the gene inversion. Fifty five cases of severe HA were involved and factor Ⅷ gene inversion was detected and identified by long distance PCR (LD PCR) and 0.6% agarose gel electrophoresis. The 11 kb and 12 kb bands indicate the factor Ⅷ gene inversion and non inversion, respectively. Occurring of both 11 kb and 12 kb bands indicates a carrier of the inversion. The results showed that factor Ⅷ gene inversion existed in 22 out of 55 cases, which accounted for about 40% of total detected patients. Five carriers of factor Ⅷ gene inversion were diagnosed from the members in 15 families. In conclusion, LD PCR assay is a simple, rapid and accurate method for detection of factor Ⅷ gene inversion, and this approach is helpful in screening, carrier testing, and prenatal diagnosis of severe hemophilia A.

关 键 词：PCR 长距离PCR 血友病A 凝血因子Ⅷ 基因倒位 

分 类 号：R554.1[医药卫生—血液循环系统疾病]