Usefulness of HhaI and MseI DNA Polymorphism of Factor IX Gene in the Molecular Genetic Diagnosis of Hemophilia B in Korean Population.

Lee, Jae Hak; Choi, Young Min; Choe, Jin; Hwang, Do Yeong; Lee, Jin Yong

Original Article

Korean Journal of Obstetrics & Gynecology 1999;42(12):2761-2767.
Published online January 1, 2001.

Usefulness of HhaI and MseI DNA Polymorphism of Factor IX Gene in the Molecular Genetic Diagnosis of Hemophilia B in Korean Population.

Jae Hak Lee, Young Min Choi, Jin Choe, Do Yeong Hwang, Jin Yong Lee

Abstract

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.

Key Words: Hemophilia B, Polymerase Chain Reaction, MseI, HhaI, RFLP(Restriction Fragment Length Polymorphism), Carrier detection, Prenatal diagnosis