Korean J Obstet Gynecol.  2001 Mar;44(3):506-512.

RFLP Analysis of a Gene for Blood Coagulation Factor IX in Korean

• Kwon M
• Lee JM
• Jeon BK
• Oh SG
• Ryou CS
• Oh BH

Abstract

OBJECTIVE
The purpose of this study was to investigate the methods for analysis of restriction fragment length polymorphisms of hemophilia B (coagulation factorIX) gene in Korean population.
METHODS
Genomic DNAs were extracted from 40 Korean females. In order to amplify genomic DNAs at the region of the polymorphic sites, two sets of primers (Hha I and Dde I) were synthesized. The primers were named as FIX1, FIX2 for Hha I, and Dde I 59, Dde I 39 for Dde I, respectively. Hha I primers annealed 3'-flanking region of the FactorIX gene and amplified 230 bp long fragment. The PCR fragment (230 bp) treated with Hha I endonuclease produced two fragments (150 bp and 80 bp), when the polymorphic site existed. Dde I primers annealed the region of the first intron of Factor IX gene and amplified 319 bp long fragments. People cases with Dde I polymorphic site are supposed to produce 369 bp long fragment.
Results
It has been found that seven (14 X chromosomes) out of forty individuals showed Hha I polymorphism. However, none of the experimental People cases showed the Dde I polymorphism.
CONCLUSIONS
By the analysis of 80 chromosomes, the PICs calculated from allele frequency of Hha I-RFLP (0.175/0.825) and that of Dde I-RFLP (0.0/1.0) were 0.289=[1-(0.1752+0.8252)] and 0=[1-(02+12)], respectively. From these results, it can be postulated that Hha I and Dde I polymorphisms of the Factor IX gene in Korean exhibited different patterns from those of Caucasian.

Keyword

Blood coagulation factor IX; Hemophilia B; RFLP; PCR; Hha I; Dde I

MeSH Terms

Blood Coagulation Factors*
Blood Coagulation*
Dichlorodiphenyl Dichloroethylene
DNA
Factor IX*
Female
Gene Frequency
Genes, vif*
Hemophilia B
Humans
Introns
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length*
Blood Coagulation Factors
DNA
Dichlorodiphenyl Dichloroethylene
Factor IX