Analysis of the Coagulation Factor XII 46 C/T Polymorphism in a Pedigree and Related Literature Review.

To detect the gene mutation of a pedigree with coagulation factor XII (FXII) deficiency.

The peripheral blood samples were collected from the proband and his parents, and the plasma FXII:C were determined. All the exons and exon-intron boundries of F12 gene were amplified with PCR and sequenced directly.

The activity of FXII were 52.5%, 78.6% and 89% for the proband, his father and mother, respectively. Direct sequencing suggested that the proband was 46 T/T genotype in exon1, while both his parents were 46 C/T genotype in the same alle. No other base change was detected in F12 gene.

The 46 T/T polymorphism of F12 gene might be the cause of FXII:C deficiency for the propositus.

No relevant conflicts of interest to declare.