Diagnosis of factor VIII gene inversion by PCR in Korean patients with hemophilia A and its application to carrier detection.
- Author:
Gyoung Hoon LEE
1
;
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
Author Information
1. Department of Obstetrics and Gynecology, Seoul Medical Center, Public Corporation, Korea.
- Publication Type:Original Article
- Keywords:
Hemophilia A;
inversion;
PCR;
carrier detection
- MeSH:
Diagnosis*;
Factor VIII*;
Female;
Hemophilia A*;
Humans;
Introns;
Polymerase Chain Reaction*
- From:Korean Journal of Obstetrics and Gynecology
2007;50(7):976-981
- CountryRepublic of Korea
- Language:Korean
-
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.
