ATHEROTHROMBOTIC DISORDERS: MUTATION IN THE FACTOR XIII GENE

摘要

The invention relates to a mutation in the Factor XIII A-subunit gene. The Factor XIII A gene product catalyzes the covalent cross linkage of two glutamate amino acid residues with two lysine amino acid residues in the η-chain of fibrin followed by the polymerisation of α-fibrin to form a blood clot. This application describes how a point mutation in codon 34 of exon 2 which results in a Valine→Leucine substitution (Factor XIII Val34 Leu) is protective against atherothrombotic disorders and more specifically myocardial infarcation. This application describes a method and a kit for use in clinical diagnosis of thrombotic disorders and preventative prophylactics.