Intron 22-specific long PCR for the Xba I polymorphism in the factor VIII gene

O El-Maarri; J Oldenburg; S H Cağlayan

doi:10.1046/j.1365-2141.1999.01430.x

Intron 22-specific long PCR for the Xba I polymorphism in the factor VIII gene

Br J Haematol. 1999 Jun;105(4):1120-2. doi: 10.1046/j.1365-2141.1999.01430.x.

Authors

O El-Maarri¹, J Oldenburg, S H Cağlayan

Affiliation

¹ Department of Molecular Biology and Genetics, Boğaziçi University, Bebek, Istanbul, Turkey.

PMID: 10554830
DOI: 10.1046/j.1365-2141.1999.01430.x

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Blotting, Southern
Factor VIII / genetics*
Female
Genetic Linkage
Hemophilia A / genetics*
Humans
Introns / genetics*
Polymerase Chain Reaction / methods
Polymorphism, Genetic

Substances

Factor VIII