The prevalence study on restriction fragment length polymorphism analysis for the detection of hemophilia A carrier.
10.3349/ymj.1993.34.3.239
- Author:
Kyung Soon SONG
1
;
Chang Hoon LEE
;
Chong Sin CHUNG
;
Kook LEE
;
Young Ho YANG
;
Kir Young KIM
Author Information
1. Department of Clinical Pathology, Yonsei University College of Medicine, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
Hemophilia A;
carrier detection;
restriction fragment length polymorphism
- MeSH:
Base Sequence;
Gene Frequency;
Hemophilia A/epidemiology/*genetics;
*Heterozygote Detection/methods;
Human;
Korea/epidemiology;
Molecular Sequence Data;
Polymerase Chain Reaction;
Polymorphism, Restriction Fragment Length;
Prevalence
- From:Yonsei Medical Journal
1993;34(3):239-242
- CountryRepublic of Korea
- Language:English
-
Abstract:
We have analyzed two (BclI and XbaI) intragenic restriction fragment length polymorphisms (RFLPs) and St14 (DXS52) variable number of tandem repeats (VNTR) by rapid PCR method in 97 unrelated normal subjects. The incidences for positive Bc1I and XbaI polymorphic sites in the Koreans were 81% and 72%, respectively, which were higher than other ethnic groups but similar to that reported in the Chinese or Japanese, giving the heterozygosity rate of 0.32 and 0.40, respectively. The amplified allele size was 880 bp with no other polymorphism in the analysis of St14 (DXS52) VNTR. This finding should be taken into account in the planning of a prenatal diagnosis program for ethnic Koreans
