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KMID : 0358420070500070976
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Korean Journal of Obstetrics and Gynecology
2007 Volume.50 No. 7 p.976 ~ p.981
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Diagnosis of factor Ⅷ gene inversion by PCR in Korean patients with hemophilia A and its application to carrier detection
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Lee Gyoung-Hoon
Jee Byung-Chul
Suh Chang-Suk
Ku Seung-Yup
Kim Jung-Gu
Jun Jong-Kwan
Kim Seok-Hyun
Min Eung-Gi
Choi Young-Min
Moon Shin-Yong
Lee Mi-Ran
Park Sung-Hyo
Yoo Ki-Young
Hwang Do-Yeong
Choe Jin
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Abstract
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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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KEYWORD
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hemophilia A, inversion PCR, carrier detection
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