Regional mapping of the gene for familial Mediterranean fever on human chromosome 16p13

Familial Mediterranean fever (FMF) is an autosomal recessively inherited inflammatory disorder characterized by recurrent short episodes of fever, peritonitis, arthritis, and pleuritis. Recently, linkage was demonstrated between FMF and the VNTR probes 3'HVR and 5'HVR of the α-globin complex at 16p13.3 (θ = 0.06-0.10, Lod(max) = 9.76-14.47) and the insertion/deletion polymorphism detected by the probe CMM65 of D16S84 (θ = 0.04, Lod(max) = 9.17). We have now mapped the FMF gene between the two flanking markers D16S283/D16S291 (θ = 0.038) and D16S80 (θ = 0.159). The proximity of the microsatellite markers in D16S283 and D16S291 to the FMF gene allows preclinical diagnosis in most pedigrees with affected individuals.