MEFV Mutations in Tunisian Patients Suffering from Familial Mediterranean Fever
| Autor: | Ridha Mrad, Taoufik Ben Chaabane, Lamia Ben Jemaa, Fatma Ben Moussa, Maher Kharrat, Skander Mrad, Faouzi Maazoul, M. Chaabouni, Habiba Chaabouni, Mohamed Ksantini, Isabelle Touitou, Nizar Smaoui, Zouhair Bahloul |
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| Přispěvatelé: | Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS) |
| Rok vydání: | 2007 |
| Předmět: |
Adult
Male Proband Tunisia Adolescent DNA Mutational Analysis Population Familial Mediterranean fever Gene mutation Genetic determinism 03 medical and health sciences Rheumatology medicine Humans Genetic Predisposition to Disease Allele Child education ComputingMilieux_MISCELLANEOUS 030304 developmental biology Genetics 0303 health sciences education.field_of_study business.industry 030305 genetics & heredity Middle Aged Pyrin MEFV medicine.disease Familial Mediterranean Fever 3. Good health Cytoskeletal Proteins Anesthesiology and Pain Medicine [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics Child Preschool Mutation Mutation (genetic algorithm) Female business |
| Zdroj: | Seminars in Arthritis and Rheumatism Seminars in Arthritis and Rheumatism, WB Saunders, 2007, 36 (6), pp.397-401. ⟨10.1016/j.semarthrit.2006.12.004⟩ |
| ISSN: | 0049-0172 |
| DOI: | 10.1016/j.semarthrit.2006.12.004 |
| Popis: | Objectives To identify the frequency and distribution of familial Mediterranean fever (FMF) gene (MEFV) mutations in Tunisian patients. Patients and Methods This study was performed in the Genetic Department of Tunis University Hospital. A clinical diagnosis of FMF was made according to published criteria. Mutation screening of the MEFV gene was performed in the Human Genetic Laboratory of the “Faculte de Medecine de Tunis” for 8 mutations including the 5 most common known mutations M694V, V726A, M694l, M680l, and E148Q. The tests performed were polymerase chain reaction (PCR) restriction-digestion for M694V, V726A, M680l, R761H, E148Q; amplification refractory mutation system for A744S, M694l; and PCR-electrophoresis assay for l692del. Results Of the 139 unrelated patients investigated, 61 (44%) had 1 or 2 mutations. In 78 (56%) probands no mutation was identified: 28 patients were homozygous; 16 were compound-heterozygous; 2 had complex alleles; and 17 had only 1 identifiable mutation. Of the mutations, M680l, M694V, M694l, V726A, A744S, R761H, l692DEL, and E148Q accounted for 32, 27, 13, 5, 3, 1, 1, and 18%, respectively. Conclusion The profile of the MEFV gene mutations in the Tunisian population is concordant with other Arab populations but with some differences. M680l is the most common mutation, while V726A, the commonest mutation among Arabs, is rare in our population. |
| Databáze: | OpenAIRE |
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