【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。更多还原

【Abstract】 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.更多还原