Analysis of Inversions and Deletions in Factor VIII Gene from Hemophilia A Patients / 대한산부인과학회잡지

ABSTRACT

OBJECTIVE: For development of a direct analysis method for hemophilia A, mutational analysis of F8C carried out. METHODS: The molecular analysis of F8C gene was done using DNA isolated from the peripheral blood of 106 Korean patients with hemophilia A. For the detection of inversions in F8C gene, the multiplex long amplification polymerase chain reaction (MLA-PCR) with four primers was performed. For the detection of gross deletions in F8C gene, PCR using exon-specific primers and multiplex electrophoresis was done. RESULTS: As the result of MLA-PCR, the frequency of F8C inversion was 18.9%, 20 out of 106 hemophilia A cases. The deletions of one or more exons in F8C gene were detected in 2 out of 106 hemophilia A cases (1.9%). In one case, the exon 13 was deleted and in the other case both exons 24 and 25 were found to be deleted. CONCLUSION: The PCR-based direct analysis of F8C gene for the detection of inversions and deletions could successfully detect mutations in 20.8% of Korean patients with hemophilia A. This approach would be a very useful diagnostic tool for the direct analysis of hemophilia A and prenatal diagnosis in hemophilia A families.