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.
Citation:
El‐Maarri, O., Oldenburg, J., & Çağlayan, S. H. (1999). Intron 22‐specific long PCR for the Xba I polymorphism in the factor VIII gene. British journal of haematology, 105(4), 1120-1122.