RFLP Analysis of a Gene for Blood Coagulation Factor IX in Korean.
- Author:
Moosik KWON
1
;
Jeong Min LEE
;
Bong Kyun JEON
;
Sung Gwan OH
;
Chong Suk RYOU
;
Bo Hoon OH
Author Information
1. Department of Genetic Engineering, Sungkyunkwan University, Suwon, Korea.
- Publication Type:Original Article
- Keywords:
Blood coagulation factor IX;
Hemophilia B;
RFLP;
PCR;
Hha I;
Dde I
- MeSH:
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*
- From:Korean Journal of Obstetrics and Gynecology
2001;44(3):506-512
- CountryRepublic of Korea
- Language:Korean
-
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.
