Korean J Obstet Gynecol.  1999 Dec;42(12):2761-2767.

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

• Lee JH
• Choi YM
• Choe J
• Hwang DY
• Lee JY

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.

Keyword

Hemophilia B; Polymerase Chain Reaction; MseI; HhaI; RFLP(Restriction Fragment Length Polymorphism); Carrier detection; Prenatal diagnosis

MeSH Terms

Diagnosis*
DNA*
Factor IX*
Hemophilia A*
Hemophilia B*
Humans
Molecular Biology*
Parents
Polymerase Chain Reaction
Prenatal Diagnosis
Restriction Mapping
DNA
Factor IX