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Incidence of activated protein C resistance caused by the ARG 506 GLN
mutation in factor V in 113 unrelated symptomatic protein C-deficient
patients. The French Network on the behalf of INSERM
S Gandrille, JS Greengard, M Alhenc-Gelas, I Juhan-Vague, JF Abgrall, B Jude, JH Griffin and M Aiach
INSERM U.428, UFR des Sciences Pharmaceutiques, Paris, France.
Because multiple risk factors in one patient may increase the clinical
expression of thrombophilia, we assessed the presence in protein C-
deficient patients of the factor V Arg 506 Gln mutation responsible for
activated protein C resistance. Using a strategy allowing rapid screening
of factor V exon 10, we studied 113 patients with protein C deficiency and
104 healthy volunteers. We detected the Arg 506 Gln mutation in 15 patients
(14%) and in one healthy subject (1%). We identified a previously
unpublished sequence variation leading to an Arg 485 Lys substitution in
three normal subjects and seven protein C- deficient patients. A
significant difference in the allelic frequency of the Arg 506 Gln factor V
mutation was found between protein C- deficient patients heterozygous for
an identified protein C mutation (n = 84; allelic frequency, 4.8%) and
protein C-deficient patients with no identified mutation in the protein C
gene coding regions (n = 25; allelic frequency, 14%). The results
demonstrate that a significant subset of thrombophilic patients has
multiple genetic risk factors although additional secondary genetic risk
factors remain to be identified for the majority of symptomatic protein
C-deficient patients.
Volume 86,
Issue 1,
pp. 219-224,
07/01/1995
Copyright © 1995 by The American Society of Hematology
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