RESUMO
OBJECTIVES: Hemophilia B has been known to result from more than 500 kinds of mutations. And it is difficult to find out a mutation specific for each family. Therefore, linkage analysis of DNA polymorphism within or near the factor IX gene has been frequently used in the clinical practice for molecular genetic diagnosis of hemophilia B. But the ethnic variation makes more difficult to apply useful markers in Caucasian population. To investigate the usefulness of the MseI and HhaI polymorphism in Korean population, we analysed the MseI and HhaI polymorphism. METHODS: Forty-five normal Korean and thirteen parents of the hemophilia B patients, using PCR and restriction enzyme analysis. RESULTS: The heterozygosity rate of MseI polymorphism was 49.7% and that of HhaI polymorphism was 25.5%. CONCLUSION: These data indicated that PCR-based analysis of MseI and HhaI polymorphism of factor IX was useful in molecular genetic diagnosis of hemophilia B in Korean population.