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- Title
Intron 22-specific long PCR for the Xba I polymorphism in the factor VIII gene.
- Authors
E, O; O, J; Ç, S. H; Çağlayan, S. Hande
- 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.
- Subjects
BLOOD coagulation factors; HEMOPHILIA; DIAGNOSTIC use of polymerase chain reaction; BLOOD coagulation disorders; MOLECULAR diagnosis
- Publication
British Journal of Haematology, 1999, Vol 105, Issue 4, p1120
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1046/j.1365-2141.1999.01430.x