1.Diagnosis of factor VIII gene inversion by PCR in Korean patients with hemophilia A and its application to carrier detection.
Gyoung Hoon LEE ; Mi Ran LEE ; Sung Hyo PARK ; Young Min CHOI ; Steve K YOO ; Eung Gi MIN ; Doyeong HWANG ; Jin CHOE ; Jong Kwan JUN ; Byung Chul JEE ; Seung Yup KU ; Chang Suk SUH ; Seok Hyun KIM ; Jung Gu KIM ; Shin Yong MOON
Korean Journal of Obstetrics and Gynecology 2007;50(7):976-981
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.
Diagnosis*
;
Factor VIII*
;
Female
;
Hemophilia A*
;
Humans
;
Introns
;
Polymerase Chain Reaction*
Result Analysis
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