Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma.

Three novel polymorphisms were found in the repeated region of the large exon 13 of factor V gene, one giving rise to a codon dimorphism (Ser1240) and two causing aminoacid substitutions (His1299Arg, Leu1257Ile). An increasing frequency of the Arg1299 (R2 allele) correlated with a decreasing mean plasma factor V activity in the groups of subjects under study, which included 26 unrelated subjects with partial factor V deficiency. Family studies supported the co-inheritance both of low factor V activity and of R2 allele. The reduction of factor V activity associated with the R2 allele was not clinically symptomatic even in the homozygous condition and was characterized by a parallel reduction of antigen in plasma, in which abnormal molecules were not detected. Data suggest that the R2 allele represents a marker in linkage with an unknown defect rather than a functional polymorphism. These studies provide the first evidence of a genetic component in determining factor V levels in plasma and of a genetic linkage between the factor V gene and factor V deficiency. They also define specific haplotypes which are associated with factor V deficiency or with APC resistance (Arg506Gln) and are valuable tools for the study of factor V defects.
AuthorsB Lunghi, L Iacoviello, D Gemmati, M G Dilasio, E Castoldi, M Pinotti, G Castaman, R Redaelli, G Mariani, G Marchetti, F Bernardi
JournalThrombosis and haemostasis (Thromb Haemost) Vol. 75 Issue 1 Pg. 45-8 (Jan 1996) ISSN: 0340-6245 [Print] GERMANY
PMID8713778 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Genetic Markers
  • Factor V
  • Base Sequence
  • Case-Control Studies
  • Factor V (genetics, metabolism)
  • Female
  • Genetic Markers
  • Haplotypes
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Polymorphism, Genetic
  • Repetitive Sequences, Nucleic Acid
  • Thrombosis (genetics)

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