Combined analysis of the MspI and XbaI polymorphisms in intron 22 of the factor VIII gene for detection of hemophilia a in a Korean population

S. H. Park, Namhyun Chung, M. R. Lee, S. K. Yoo, Y. M. Choi

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To determine the usefulness of MspI/int22h-1 (intron 22 homologous region-1) polymorphism of the factor VIII gene for molecular genetic diagnosis of hemophilia A in the Korean population, MspI/intron 22 and XbaI/intron 22 polymorphisms were analyzed in 101 unrelated Korean families with severe hemophilia A. The expected heterozygosity rates of MspI/int22h-1 and XbaI/ int22h-1 polymorphisms were 49.5 and 43.6%, respectively; these polymorphisms were not in complete linkage disequilibrium. Combined analysis using both polymorphisms provided an informative rate of 66.3%. These results suggest that PCR analysis of the MspI/ int22h-1 polymorphism of the factor VIII gene would be useful for carrier detection and prenatal diagnosis of hemophilia A in the Korean population.

Original languageEnglish
Pages (from-to)1-9
Number of pages9
JournalGenetics and Molecular Research
Issue number1
Publication statusPublished - 2012



  • Factor VIII gene
  • Hemophilia a
  • Intron 22
  • Molecular genetic diagnosis
  • Mspi
  • Xbai

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology

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