한국인 혈우병 A 환자에서 PCR을 이용한 Factor 8 유전자의 Inversion 진단 및 보인자 진단 = Diagnosis of factor 8 gene inversion by PCR in Korean patients with hemophilia A and its application to carrier detection

다국어 초록 (Multilingual Abstract)

Objective: To establish PCR (polymerase chain reaction) method for detecting factor VIII gene inversion (intron 22) causing hemophilia A, and to apply it to carrier detection of hemophilia A. Design: A laboratory analysis Materials and Methods: An inversion pattern of the factor VIII gene was analyzed in 130 unrelated Korean patients with hemophilia A and 26 female subjects using PCR. Results: PCR analysis of the factor VIII gene for intron 22 inversion revealed that 91 patients (70%) were negative for the inversion, yielding 12 kb band by PQ primer. And all the other 39 (30%) patients who showed no amplification by PQ primer were positive for the inversion, yielding 11kb band by AQ primer. Among 113 patients with severe hemophilia A, 39 (35%) patients were positive for the inversion. Carrier detection for intron 22 inversion in 26 female subjects was performed, and revealed that 22 cases were carriers and 4 cases were normal female. Conclusion: This result suggests that PCR analysis of the inversion within the factor VIII gene is useful in the carrier detection of hemophilia A as well as in identifying hemophilia A patients with intron 22 inversion, in the Korean population.