A highly polymorphic microsatellite in the factor V gene is an informative tool for the study of factor V‐related disorders

• Published in: British journal of haematology Vol. 114; no. 4; pp. 868 - 870
• Main Authors: Castoldi, Elisabetta, Lunghi, Barbara, Mingozzi, Federico, Simioni, Paolo, Girolami, Antonio, Bernardi, Francesco
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Science Ltd 01.09.2001; Blackwell; Blackwell Publishing Ltd
• Subjects: Biological and medical sciences; Factor V - genetics; factor V deficiency; factor V gene; factor V Leiden; Female; Gene Frequency; Genetic Markers; Hematologic and hematopoietic diseases; Hematology; Humans; Italy; Male; Medical sciences; Microsatellite Repeats; Pedigree; Platelet diseases and coagulopathies; Polymerase Chain Reaction - methods; Polymorphism, Genetic; R2 allele; Thrombophilia - genetics; VNTR; Italy; Human; Hypercoagulability; Factor V Leiden; Serine endopeptidases; Genetic marker; Enzyme; Deficiency; EC 3.4.21.69; Hemopathy; Tandemly repeated sequence; Factor V; Resistance; Thrombophilia; Peptidases; Gene; Microsatellite DNA; Genetics; Hydrolases; Mutation; Coagulation factor; Coagulopathy; Protein C (activated); Polymorphism
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1046/j.1365-2141.2001.03052.x

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.