Korean J Obstet Gynecol.
2007 Jul;50(7):976-981.
Diagnosis of factor VIII gene inversion by PCR in Korean patients with hemophilia A and its application to carrier detection
- Affiliations
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- 1Department of Obstetrics and Gynecology, Seoul Medical Center, Public Corporation, Korea.
- 2Korea Hemophilia Foundation Clinic, Korea.
- 3Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Korea. ymchoi@snu.ac.kr
- 4Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University College of Medicine, Korea.
- 5Hamchoon Women's Clinic, Korea.
- 6Department of Obstetrics and Gynecology, Dongguk University International Hospital, Korea.
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.
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