title: 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.
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.
authors.affiliation: Division of Biotechnology, College of Life Sciences and Biotechnology, Korea University, Seoul, Korea.
authors.forename: S H
authors.initials: SH
authors.lastname: Park
authors.forename: N
authors.initials: N
authors.lastname: Chung
authors.forename: M R
authors.initials: MR
authors.lastname: Lee
authors.forename: S K
authors.initials: SK
authors.lastname: Yoo
authors.forename: Y M
authors.initials: YM
authors.lastname: Choi
mesh_terms: D044466:Asian People / Q000235:genetics*; D019003:Deoxyribonuclease HpaII / Q000378:metabolism; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005169:Factor VIII / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D015810:Linkage Disequilibrium; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea; D017422:Sequence Analysis, DNA
chemical_list: D005169:Factor VIII; D019003:Deoxyribonuclease HpaII; C025580:endodeoxyribonuclease XBAI; D015252:Deoxyribonucleases, Type II Site-Specific