A human marenostrin gene is new. Also claimed are: (1) a nucleic acid comprising sequence (I) having a defined DNA sequence of 1886 bp given in the specification; (2) a nucleic acid comprising a sequence (Ia) encoding all or part of the protein whose mutated form is responsible for familial Mediterranean fever (FMF); (3) a polypeptide encoded by a nucleic acid as in (1) to (2); (4) the human marenostrin protein; (5) a probe for detecting the gene responsible for FMF; (6) a primer consisting of a single-stranded nucleic acid comprising 3-50 "complementary" nucleotides from at least part of (I) or its complement; (7) a pair of primers, each hybridising to a 60 kb fragment derived from the FMF locus, where one of the primers hybridises 5' to the last exon of the marenostrin gene, the other primer hybridises 3' to the last exon of the marenostrin gene, and the two primers amplify a region of up to 2 kb comprising all or part of the last exon of the marenostrin gene; (8) a method for detecting a mutation in the marenostrin gene, comprising providing a sample comprising a nucleic acid encoding all or part of marenostrin, and detecting one or more mutations in this nucleic acid.
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