RAPID IDENTIFICATION OF GENE DEFECTS IN PROTEIN-C DEFICIENCY BY TEMPERATURE-GRADIENT GEL-ELECTROPHORESIS

Protein C deficiency is an autosomally inherited disorder that is asso ciated with a high risk of recurrent venous thrombosis. The authors ha ve shown that temperature gradient gel electrophoresis (TGGE) is a sim ple and rapid screening method for the detection of mutations in the p rotein C gene. Samples from eleven patients with sequence defined poin t mutations in the promoter region of exon I, and in exons II, III, VI I, VIII and IX were analysed by TGGE. In all cases the mutations were readily detected. The exons IV, V and VI were not submissive to TGGE a nalysis due to amplification difficulties. However, specific computer calculations predict a more general applicability of TGGE for the dete ction of any mutation in the protein C gene. The presented data establ ish the usefulness of TGGE as a simple and rapid screening method for the detection of hereditary mutations in the protein C gene.