New nucleic acid encoding mutant factor 7 activating protease, useful for diagnosis, treatment and prevention of coagulation disorders, also related protein and antibodies

摘要

Mutant (A) of the DNA sequence, encoding the protease (FSAP) that activates blood coagulation factor 7 (F7) and single-chain plasminogen activator, has at least one of the base changes G to C at nucleotide (nt) 1177 and G to A at nt 1601. Independent claims are also included for the following: (1) mutant FSAP having at least one of the amino acid exchanges Glu393Gln and/or Gly534Glu; (2) identifying (M1) subjects with genetically related hetero- or homo-zygotic expression of the FSAP mutant by detecting the mutation in genomic DNA or derived mRNA; (3) mono- or poly-clonal antibodies (Ab) directed against FSAP, its proenzyme, cleavage products or mutants; (4) detecting (M2) FSAP, its proenzyme, cleavage products or mutants using Ab; (5) test system for methods (M1) and (M2); (6) preparing (A); (7) purifying, detecting and/or determining FSAP or its proenzyme, using monoclonal Ab or its Fab or F(ab')2 fragments; and (8) detecting (M3) antibodies to FSAP and/or its mutants with one or more amino acid changes.