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
| Autor: | Martine Aiach, JH Griffin, Brigitte Jude, Martine Alhenc-Gelas, JF Abgrall, JS Greengard, Sophie Gandrille, Irène Juhan-Vague |
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| Rok vydání: | 1995 |
| Předmět: |
Male
Adolescent Immunology Molecular Sequence Data medicine.disease_cause Thrombophilia Biochemistry Protein C deficiency Risk Factors medicine Humans Point Mutation Child Codon Allele frequency Alleles Retrospective Studies Mutation biology Base Sequence C-reactive protein Factor V Thrombosis Cell Biology Hematology Middle Aged medicine.disease Molecular biology Child Preschool biology.protein Female Factor V Deficiency Activated protein C resistance Protein C medicine.drug |
| Zdroj: | Blood. 86(1) |
| ISSN: | 0006-4971 |
| Popis: | 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 We identified a previously unpublished sequence variation leading to an Arg 485 Lys substitution in three normal subjects and seven protein C- deficient patients.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. |
| Databáze: | OpenAIRE |
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