| 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 gamma -chain of fibrin followed by the polymerisation of alpha -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. |
