Premium
Intron 22‐specific long PCR for the Xba I polymorphism in the factor VIII gene
Author(s) -
ElMaarri Osman,
Oldenburg Johannes,
Çağlayan S. Hande
Publication year - 1999
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1999.01430.x
Subject(s) - genetics , intron , biology , locus (genetics) , gene , microbiology and biotechnology , southern blot
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.