title: Detection of factor V Leiden from a drop of blood by PCR-SSCP.
abstract: Recently, a point mutation in the coagulation Factor V gene (G to A in position 1691) has been identified which makes the mutant Factor V (called Factor V Leiden) resistant to activated protein C. This defect is a well established genetic risk factor in venous thrombosis. Because of the high prevalence of Factor V Leiden in normal population (2-7%), it would be reasonable to perform a rapid and simple method for screening the genetic abnormality in population at risk. We have developed a simple, reproducible, rapid and cheap procedure that, using PCR and SSCP, allows the identification of the mutation responsible for Factor V Leiden. Specificity of this method has been tested in 319 samples: 304 normal, 14 heterozygous and 1 homozygous for Factor V Leiden. This assay allows non-isotopic Factor V Leiden identification by using frozen whole blood in 3 h. All these features make this test adequate for routine screening of this mutation in a large number of samples.
authors.affiliation: Unidad de Hematología-Hemoterapia, Hospital General Universitario, School of Medicine, Murcia, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Corral
authors.forename: J A
authors.initials: JA
authors.lastname: Iniesta
authors.forename: R
authors.initials: R
authors.lastname: González-Conejero
authors.forename: V
authors.initials: V
authors.lastname: Vicente
mesh_terms: D005165:Factor V / Q000032:analysis*; D005166:Factor V Deficiency / Q000097:blood* / Q000150:complications / Q000235:genetics; D006801:Humans; D008832:Microchemistry; D016133:Polymerase Chain Reaction / Q000379:methods*; D018807:Polymorphism, Single-Stranded Conformational; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D013924:Thrombophlebitis / Q000097:blood / Q000209:etiology
chemical_list: C095381:factor V Leiden; D005165:Factor V