Abstract
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 language | English |
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Pages (from-to) | 1-9 |
Number of pages | 9 |
Journal | Genetics and Molecular Research |
Volume | 11 |
Issue number | 1 |
DOIs | |
Publication status | Published - 2012 |
Keywords
- Factor VIII gene
- Hemophilia a
- Intron 22
- Molecular genetic diagnosis
- Mspi
- Xbai
ASJC Scopus subject areas
- Molecular Biology
- Genetics