Activated protein C (APC)-resistance: automated detection of the point mutation at position 1691 in the factor V gene.
Proteolytic cleavage of factor Va, caused by activated protein C, is an important mechanism in limiting clot formation in normal haemostasis. A single point mutation in the factor V gene has been demonstrated to cause resistance of factor Va to proteolytic cleavage by activated protein C. With an 8-fold increased risk of thrombosis and a 2 to 13% prevalence in the Caucasian population for the heterozygous state of this mutation, knowledge of the patient's genetic disposition is of great importance in conditions such as pregnancy, surgery, use of oral contraceptives and immobilization. Therefore we have developed an automated test for the detection of the factor V mutation. This PCR based test makes use of the disappearance of an Mnl 1 restriction site if the mutation is present. The assay has been developed for the widely used ES-systems of Boehringer Mannheim. The test discriminates between the heterozygous and the homozygous state. Because of its low costs and easy handling the assay can be used as a screening test and can be performed in routine clinical laboratories.
Klingler
K R
KR
Institut für Klinische Chemie, Universität zu Köln, Germany.
Grote
S
S
Holzem
G
G
Wielckens
K
K
D020016:Activated Protein C Resistance / Q000235:genetics*; D001483:Base Sequence; D019963:Clinical Chemistry Tests / Q000191:economics; D003365:Costs and Cost Analysis; D004247:DNA; D004262:DNA Restriction Enzymes; D005165:Factor V / Q000235:genetics*; D006801:Humans; D006868:Hydrolysis; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015203:Reproducibility of Results
D005165:Factor V; D004247:DNA; D004262:DNA Restriction Enzymes