Coagulation and Genotype Data in a Kindred With Factor VII Deficiency
. | VII:C % . | VII:Ag % . | −61 G→T . | −323 INSERT* . | Arg353Gln* . |
---|---|---|---|---|---|
Proband | <1 | <1 | +/+ | −/− | −/− |
Father | 33 | 30 | +/− | +/− | +/− |
Mother | 44 | 38 | +/− | −/− | −/− |
. | VII:C % . | VII:Ag % . | −61 G→T . | −323 INSERT* . | Arg353Gln* . |
---|---|---|---|---|---|
Proband | <1 | <1 | +/+ | −/− | −/− |
Father | 33 | 30 | +/− | +/− | +/− |
Mother | 44 | 38 | +/− | −/− | −/− |
VII:C and VII:Ag results are expressed as percentage of normal plasma pool.
Presence or absence of the sequence alteration in each allele is denoted by + or − signs, respectively.
The presence of alleles that contain a decanucleotide insert at nucleotide −323 or the codon for Gln353 is associated with modest reductions in factor VII levels.22,24 25