重型血友病甲凝血因子Ⅷ基因内含子22倒位的研究

STUDY ON INVERSION OF INTRON 22 OF FACTORVIII GENE IN SEVERE HEMOPHILIA A PATIENTS

应用ＤＮＡＳｏｕｔｈｅｒｎ印迹法，检测６６例血友病甲患者。发现２２例有凝血因子ＶＩＩＩ（ＦＶＩＩＩ）基因内含子２２的倒位，占３３．３％；在６６例患者中，４７例为重型，有倒位重组的患者均为重型，占重型患者的４６．８％。表明由倒位机制引起的重型血友病甲在中国人群中其发病率是较高的。因此对本病的发病机制、携带者检测和产前诊断具有重要理论和应用意义。

y using southern blot analysis, 22 of 66 (33. 3%)hemophilia A patients were found to have inversionsbetween intronic gene A in intron 22 of FVIII gene andeither of the two gene A located 500kb upstream toFVIII gene. Inversion of intron 22 was observed onlyin severe cases. As the incidence of this event was ashigh as 46. 8% in severe hemophilia A patients, itmight be a common cause of hemophilia A in Chinese.In addition, the detection of intron 22 inversion mightbe a useful tool for carrier detection and prenatal diag-nosis.