PMID: 8603026Feb 1, 1996Paper

A-793 G to A transition in the factor IX gene promoter is polymorphic in the Caucasian population

British Journal of Haematology
H K Rai, P R Winship

Abstract

We report the incidence of a prevalent polymorphism at position -703 in the promoter region of the factor IX gene in caucasian individuals. This DNA change was originally reported as one of two changes in the factor IX gene of a severely affected haemophilia B patient from Japan. We confirm the neutral nature of this change and demonstrate that, despite showing linkage disequilibrium with the previously reported Msel RFLP < 100 bp distant, the use of these two loci together in a carrier screening strategy significantly increases the level of informativity over the achieved using either polymorphism alone.

Citations

Feb 12, 2002·Molecular Pathology : MP·D J Bowen
Apr 16, 2002·Molecular Pathology : MP·D J Bowen

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood Clotting Disorders

Thrombophilia includes conditions with increased tendency for excessive blood clotting. Blood clotting occurs when the body has insufficient amounts of specialized proteins that make blood clot and stop bleeding. Here is the latest research on blood clotting disorders.