Detection of hemophilia A carriers using intragenic factor VIII:C DNA polymorphisms.
A DNA polymorphism for an Xbal site in intron 22 of the human factor VIII:C gene extends the utility of DNA methods for carrier detection in families segregating for hemophilia A. While the DNA polymorphism detected by a BclI site in intron 18 of the factor VIII:C gene was informative for 41% of females studied, the BglI/intron 25 polymorphism provided no additional information because of apparent linkage disequilibrium. In contrast, the Xbal intron 22 polymorphism was useful in 53% of women who were uninformative (homozygous) for either the BclI or BglI polymorphisms. Using the BclI/intron 18 and Xbal/intron 22 intragenic polymorphisms, we could provide highly accurate information for 68% of women we studied who were at risk for carriership. The carrier status of the remaining 32% could be determined utilizing the closely linked Taql/St14 DNA polymorphism.
D004247:DNA / Q000235:genetics*; D005169:Factor VIII / Q000032:analysis / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005838:Genotype; D006467:Hemophilia A / Q000097:blood / Q000175:diagnosis*; D006801:Humans; D010375:Pedigree; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
D005169:Factor VIII; D004247:DNA