Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)
| Autor: | Brigitte Nedelec, Christophe Pêcheux, Jean Medaxian, Gilles Grateau, Corinne Cruaud, Itshak Rosner, Jacques Demaille, Christophe Caloustian, Catherine Dodé, Daniel Cattan, Jean-Louis Petit, Alain Bernot, Jean Weissenbach, Mehdi Ahmed-Arab, Madeleine Dupont, Marc Delpech, Isabelle Touitou, Michel Rozenbaum, Christiane Dross, Nizar Smaoui, Valérie Castet, Corinne Da Silva |
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| Rok vydání: | 1998 |
| Předmět: |
Candidate gene
Molecular Sequence Data Familial Mediterranean fever Locus (genetics) Biology Exon Africa Northern Genetics medicine Humans Amino Acid Sequence Molecular Biology Gene Genetics (clinical) Haplotype Proteins General Medicine Exons Pyrin MEFV medicine.disease Familial Mediterranean Fever Cytoskeletal Proteins Haplotypes Mutation Sequence Analysis Founder effect |
| Zdroj: | Human molecular genetics. 7(8) |
| ISSN: | 0964-6906 |
| Popis: | Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurring attacks of fever and serositis. It affects primarily North African Jews, Armenians, Turks and Arabs, in which a founder effect has been demonstrated. The marenostrin-pyrin-encoding gene has been proposed as a candidate gene for the disease ( MEFV ), on the basis of the identification of putative mutations clustered in exon 10 (M680V, M694I, M694V and V726A), each segregating with one ancestral haplotype. In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H). Except for E148Q and K695R, all mutations were found in a single chromosome. Mutation E148Q was found in all ethnic groups studied and in association with a novel ancestral haplotype in non-Ashkenazi Jews (S2). Altogether, these new findings definitively establish the marenostrin/pyrin-encoding gene as the MEFV locus. |
| Databáze: | OpenAIRE |
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