title: Rapid identification of gene defects in protein C deficiency by temperature gradient gel electrophoresis.
abstract: Protein C deficiency is an autosomally inherited disorder that is associated with a high risk of recurrent venous thrombosis. The authors have shown that temperature gradient gel electrophoresis (TGGE) is a simple and rapid screening method for the detection of mutations in the protein C gene. Samples from eleven patients with sequence defined point mutations in the promoter region of exon I, and in exons II, III, VII, 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 analysis due to amplification difficulties. However, specific computer calculations predict a more general applicability of TGGE for the detection of any mutation in the protein C gene. The presented data establish the usefulness of TGGE as a simple and rapid screening method for the detection of hereditary mutations in the protein C gene.
authors.affiliation: Bone Marrow Donor Center with Transplantation Immunology, Heinrich-Heine University, Düsseldorf, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Hernández
authors.forename: M
authors.initials: M
authors.lastname: Uhrberg
authors.forename: J
authors.initials: J
authors.lastname: Enczmann
authors.forename: I
authors.initials: I
authors.lastname: Witt
authors.forename: P H
authors.initials: PH
authors.lastname: Reitsma
authors.forename: P
authors.initials: P
authors.lastname: Wernet
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods*; D005091:Exons / Q000235:genetics; D005796:Genes; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008969:Molecular Sequence Data; D009691:Nucleic Acid Denaturation; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic / Q000235:genetics; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency; D012984:Software; D013696:Temperature
chemical_list: D011486:Protein C