| Molecular Genetic Diagnosis of Hemophilia A by Linkage Analysis of XbaI/intron 22 DNA Polymorphism Using PCR. |
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Young Min Choi, Sung Hyo Park, Ko Eun Back, Do Yeong Hwang, Jin Choe, Seung Yup Ku, Chang Suk Suh, Seok Hyun Kim, Jung Gu Kim, Mi Ran Lee, Eun Joo Kim |
1Department of Obstetrics and Gynecology, Seoul National University, Korea.
2Institute of Reproductive Medicine and Population, Medical Research Center, College of Medicine, Seoul National University, Korea.
3Hamchoon Women's Clinic, Korea.
4Korea Hemophilia Foundation Clinic, Korea. |
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| Abstract |
OBJECTIVE
To set up the methodology for PCR analysis of XbaI/intron 22 polymorphism of the factor VIII gene, and to identify the usefulness of XbaI/intron 22 polymorphism analysis for carrier detection and prenatal diagnosis of hemophilia A in the Korean population. DESIGN: A laboratory analysis. MATERIALS AND METHODS: A XbaI/intron 22 polymorphism of the factor VIII gene was analyzed in 56 unrelated Korean mothers of patients with severe hemophilia A, using polymerase chain reaction. RESULTS: Analysis of XbaI/intron 22 polymorphisms of the factor VIII gene were feasible by PCR method. The expected heterozygosity rates of XbaI/intron 22 polymorphism of the factor VIII gene were 44.8%. Analysis of XbaI/intron 22 polymorphism revealed heterozygous patterns in 22 (39.3%) of 56 mothers studied. Using linkage analysis with XbaI/intron 22 polymorphism, we have attempted one case of carrier detection and two cases of prenatal diagnosis in two families of patients with severe hemophilia A. CONCLUSION: These results suggest that PCR analysis of the XbaI/intron 22 polymorphism within the factor VIII gene is very useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population. |
| Key Words:
Hemophila A, XbaI, PCR, Molecular genetic diagnosis, Carrier detection, Prenatal diagnosis |
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