75例血友病A患者内含子22及1基因倒位情况分析

Analysis of Gene Inversion of Introns 22 and Introns 1 in 75 Patients with Hemophilia A

目的:观察血友病A(HA)患者凝血因子Ⅷ(FⅧ)基因内含子22倒位和内含子1倒位情况。方法:取75例HA患者静脉血,采用长距离PCR扩增技术(LD-PCR)检测内含子22和内含子1倒位情况,观察两种内含子倒位发生率,同时观察内含子22倒位在重型HA中的比例,比较有家族史和无家族史HA患者内含子22倒位发生率。结果:检出22号内含子倒位患者27例,检出率36%(27/75),全部为HA重型患者,占重型血友病A患者的57.4%(27/47);27例中有21例有家族史,有家族史患者内含子22号倒位的发生率高于无家族史患者(P<0.05);检出内含子1倒位1例,占1.3%(1/75)。结论:FⅧ基因内含子22倒位患者患重型HA的几率较高,内含子22倒位检测在重型HA的基因诊断中具有重要意义。

Objective：To observe the inversion of intron 22 and intron 1 in coagulation factor VIII gene of patients with hemophilia A（ HA）. Methods：Venous blood was taken from 75 cases of HA pa-tients. Long range PCR amplification technology（ LD-PCR）was adopted to detect intron 22 and intron 1 inversion. Two introns inversion occurrence was observed,and the intron 22 inversion proportion in severe HA patients was observed. The intron 22 inversion incidence was compared between patients of HA family history and no HA family history. Results：27 patients with intron 22 inversion were found among the 75 patients,and detection rate was 36%. All of 27 were severe HA patients,accounting for 57. 4% of total 47 cases of severe HA patients（27/47）. In 27 cases,there were 21 cases with family history,and the incidence of intron 22 inversion was higher than that in patients with no family history （P﹤0.05）. There was 1 case of intron 1 inversion,accounting for 1.3%（1/75）. Conclusions：There is a higher probability of F VIII gene intron 22 inversion in severe HA patients,and intron 22 in-version detection has important significance in severe HA patients gene diagnosis.