title: Intron 22-specific long PCR for the Xba I polymorphism in the factor VIII gene.
abstract: The Xba I polymorphic site in the factor VIII gene is present in the int22h-1 region which is found in two other copies (int22h-2 and int22h-3) distal to the gene. Previously the polymorphic status of the Xba I locus was studied by either Southern blot or PCR that amplified all three copies. Here we report the use of a long PCR that specifically amplifies the intragenic site in intron 22, making use of this marker an easy and reliable assay. Moreover, about 25% of previously uninformative Turkish haemophilia A families examined with three markers proved to be informative for linkage analysis, using the Xba I polymorphism.
authors.affiliation: Department of Molecular Biology and Genetics, Boğaziçi University, Bebek, Istanbul, Turkey.
authors.forename: O
authors.initials: O
authors.lastname: El-Maarri
authors.forename: J
authors.initials: J
authors.lastname: Oldenburg
authors.forename: S H
authors.initials: SH
authors.lastname: Cağlayan
mesh_terms: D015139:Blotting, Southern; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic
chemical_list: D005169:Factor VIII