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A highly polymorphic microsatellite in the factor V gene is an informative tool for the study of factor V-related
E Castoldi1, B Lunghi, F Mingozzi
1Department of Biochemistry and Molecular Biology, University of Ferrara, Via L. Borsari 46, I-44100 Ferrara, Italy.
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.