Molecular genetic analysis of factor V deficiency.

(A) Pedigree of factor V–deficient family. Values in parentheses represent plasma factor V activities. Reference interval for factor V activity is 70% to 120%. Subjects with 2952delT and 5493insG mutations are demonstrated with shaded and solid areas, respectively. There was no indication of the presence of heterozygous factor V deficiency in the mother's family. (B) Identification of causative mutations in the DNA sequence of the proband. Exon 16 was sequenced on the reverse strand. Altered nucleotides are shown in italics. Predicted amino acid sequences around mutations are shown below the electropherograms. Amino acid residue numbering is based on the cDNA sequence published by Jenny et al.6