A highly polymorphic microsatellite in the factor V gene is an informative tool for the study of factor V-related disorders.
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.
Castoldi
E
E
Department of Biochemistry and Molecular Biology, University of Ferrara, Via L. Borsari 46, I-44100 Ferrara, Italy.
Lunghi
B
B
Mingozzi
F
F
Simioni
P
P
Girolami
A
A
Bernardi
F
F
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*
D005819:Genetic Markers; D005165:Factor V