title: Reverse hybridization vs. DNA sequencing in the molecular diagnosis of Familial Mediterranean fever.
abstract: Familial Mediterranean fever (FMF) is an autosomal recessive inflammatory disorder predominantly affecting people living in or originating from areas around the Mediterranean Sea. It is caused by a number of mutations within the MEFV gene, which differently affect the severity of the disease phenotype. Because patients usually present with rather nonspecific clinical symptoms, MEFV genotyping can confirm and refine FMF diagnosis and improve treatment of affected individuals. We have performed a method comparison study on 100 Lebanese FMF patients to evaluate the potential of a rapid reverse-hybridization teststrip-based assay (FMF StripAssay) to serve as a first-line screening test for our population. When results obtained by reverse-hybridization and DNA sequencing of exons 2, 3, 5, and 10 were compared, the FMF StripAssay identified 144/149 mutations, and correctly typed all 12 different MEFV mutations covered. We conclude that reverse-hybridization provides a very rapid, accurate and easy-to-perform screening method, and, in combination with more comprehensive diagnostic methods, represents an efficient strategy for FMF genotyping.
authors.affiliation: Unité de Génétique Médicale, Faculté de Médécine, Université Saint-Joseph, Beirut, Lebanon.
authors.forename: Valérie
authors.initials: V
authors.lastname: Delague
authors.forename: Gernot
authors.initials: G
authors.lastname: Kriegshäuser
authors.forename: Christian
authors.initials: C
authors.lastname: Oberkanins
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
mesh_terms: D003598:Cytoskeletal Proteins; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007861:Lebanon; D009154:Mutation; D009693:Nucleic Acid Hybridization; D011506:Proteins / Q000235:genetics*; D000071198:Pyrin; D017422:Sequence Analysis, DNA
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin