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Molecular analysis of Polish patients with factor VII deficiency
AA Arbini, D Bodkin, S Lopaciuk and KA Bauer
Department of Medicine, Brockton-West Roxbury Department of Veterans
Affairs Medical Center, MA 02132.
We analyzed the mutations in patients from 10 Polish kindreds with a
bleeding diathesis due to factor VII deficiency. Patients from eight
families had plasma levels of factor VII coagulant activity (VII:C) and
factor VII antigen (VII:Ag) that were less than 4% of normal. The coding
sequence of the factor VII gene was amplified from genomic DNA by
polymerase chain reaction (PCR). Sequencing demonstrated a C to T
transition at position 10798 resulting in Ala294Val, a G to A transition at
10976 resulting in Arg353Gln, and a single bp deletion at 11125 to 11128
causing a frameshift mutation in the triplet encoding amino acid 404.
Homozygosity for the three sequence alterations was confirmed with the
restriction enzymes AvaII and MspI and allele specific PCR, respectively. A
homozygous patient from a ninth family with levels of VII:C and VII:Ag of
4% and 17%, respectively, had Ala294Val and the frameshift mutation, but
not Arg353Gln. Investigation of a homozygous patient from a tenth kindred
with VII:C and VII:Ag of 11% and 47%, respectively, demonstrated Ala294Val
and Arg353Gln, but not the frameshift mutation. Based on the above data, we
conclude that the frameshift mutation in the codon for amino acid 404 is
associated with marked reductions in VII:C, Arg353Gln can decrease plasma
levels of factor VII in the presence of other mutations in the factor VII
gene, and Ala294Val results in a dysfunctional factor VII molecule.
Volume 84,
Issue 7,
pp. 2214-2220,
10/01/1994
Copyright © 1994 by The American Society of Hematology
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