| Diagnosis of factor VIII gene inversion by PCR in Korean patients with hemophilia A and its application to carrier detection. |
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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 |
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. |
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| 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. |
| Key Words:
Hemophilia A, inversion, PCR, carrier detection |
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