title: A highly polymorphic microsatellite in the factor V gene is an informative tool for the study of factor V-related disorders.
abstract: The role of factor V (FV) mutations in activated protein C (APC) resistance and FV deficiency is well established. We report on the identification of a highly polymorphic (AT)n microsatellite marker in the FV gene, which represents an informative tool for the investigation of the origin and evolution of pathologically relevant FV genetic components. A high number of different microsatellite alleles were found to be associated with FV R506Q and FV H1299R, two single-origin mutations. An example of the use of the microsatellite marker in family studies of thrombophilia and FV deficiency is also provided.
authors.affiliation: Department of Biochemistry and Molecular Biology, University of Ferrara, Via L. Borsari 46, I-44100 Ferrara, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Castoldi
authors.forename: B
authors.initials: B
authors.lastname: Lunghi
authors.forename: F
authors.initials: F
authors.lastname: Mingozzi
authors.forename: P
authors.initials: P
authors.lastname: Simioni
authors.forename: A
authors.initials: A
authors.lastname: Girolami
authors.forename: F
authors.initials: F
authors.lastname: Bernardi
mesh_terms: D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D006801:Humans; D007558:Italy; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D019851:Thrombophilia / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D005165:Factor V