Yonsei Med J.  1993 Sep;34(3):239-242. 10.3349/ymj.1993.34.3.239.

The prevalence study on restriction fragment length polymorphism analysis for the detection of hemophilia A carrier

Affiliations
  • 1Department of Clinical Pathology, Yonsei University College of Medicine, Seoul, Korea.
  • 2Department of Obstetrics & Gynecology, Yonsei University College of Medicine, Seoul, Korea.
  • 3Department of Padiatrics, Yonsei University College of Medicine, Seoul, Korea.

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

Keyword

Hemophilia A; carrier detection; restriction fragment length polymorphism

MeSH Terms

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
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