{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:40:10Z","timestamp":1760733610776,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,5]]},"abstract":"<jats:p>Familial Mediterranean fever is an autosomal recessive disease characterised by multiple attacks of serosal inflammation in the absence of treatment. In the absence of timely diagnosis, renal amyloidosis is a life threatening complication. The diagnosis is often missed because no specific test is available. Early colchicine treatment prevents attacks and renal complications. The FMF gene (MEF) has been mapped to chromosome 16p 13.3 but has not yet been identified. We compared the suitability of a series of microsatellite markers (four of them were new) and propose the routine use of seven of these markers, exhibiting alleles in strong linkage disequilibrium with the disease and informative in 100% of diagnosed patients. Moreover, the discovery of a homozygous status for the 3-3-9 (or 3-3-18) haplotype at the core loci (D16S3070, D16S3082, and D16S3275), which was found in 73% non-Ashkenazi Jewish patients, points to a diagnosis of FMF, even in sporadic cases, with a risk of error of only 2.10(-5). Two extensive pedigrees covering most indications for genetic counselling are presented, showing that it is now possible both prospectively and retrospectively to identify members likely to have MEF mutations. With the help of this accurate test, colchicine treatment can be better targeted, especially where the symptomatology is mild or atypical.<\/jats:p>","DOI":"10.1136\/jmg.34.5.375","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"375-381","source":"Crossref","is-referenced-by-count":4,"title":["Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-Ashkenazi Jewish pedigrees."],"prefix":"10.1136","volume":"34","author":[{"given":"M","family":"Dupont","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Dross","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Smaoui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Nedelec","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Grateau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Cl\u00e9pet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Gourdier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Kon\u00e9-Paut","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Delpech","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Demaille","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Touitou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,5,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1001\/archinte.1958.00260190052007","article-title":"Familial Mediterranean fever (FMF)","volume":"102","author":"Heller, H.; Sohar, E.; Sherf, L.","year":"1958","unstructured":"Heller H, Sohar E, Sherf L. Familial Mediterranean fever (FMF). Arch Intern Med 1958;102:50-71.","journal-title":"Arch Intern Med"},{"key":"ref_2","first-page":"311","article-title":"Familial Mediterranean fever: high gene frequency among the non-Ashkenazic and Ashkenazic Jewish populations in Israel","volume":"55","author":"Daniels, M.; Shohat, T.; Brenner-Ulman, A.; Shohat, M.","year":"1995","unstructured":"Daniels M, Shohat T, Brenner-Ulman A, Shohat M. Familial Mediterranean fever: high gene frequency among the non-Ashkenazic and Ashkenazic Jewish populations in Israel. Am3JMed Genet 1995;55:311-14."},{"key":"ref_3","first-page":"227","article-title":"Familial Mediterranean fever: a survey of 470 cases and review of the literature","volume":"43","author":"Sohar, E.; Gafni, J.; Pras, M.; Heller, H.","year":"1967","unstructured":"Sohar E, Gafni J, Pras M, Heller H. Familial Mediterranean fever: a survey of 470 cases and review of the literature. Am JMed 1967;43:227-53.","journal-title":"Am JMed"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1056\/NEJM198604173141601","article-title":"Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever","volume":"314","author":"Zemer, D.; Pras, M.; Sohar, E.","year":"1986","unstructured":"Zemer D, Pras M, Sohar E, et al. Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. NEngljMed 1986;314:1001-5.","journal-title":"NEngljMed"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1804","DOI":"10.1002\/art.1780371215","article-title":"Colchicine treatment of AA amyloidosis of familial Mediterranean fever. Analysis of factors affecting outcome","volume":"37","author":"Livneh, A.; Zemer, D.; Langeitz, P.","year":"1994","unstructured":"Livneh A, Zemer D, Langeitz P, et al. Colchicine treatment of AA amyloidosis of familial Mediterranean fever. Analysis of factors affecting outcome. Arthritis Rheum 1994;37: 1804-11.","journal-title":"Arthritis Rheum"},{"key":"ref_6","first-page":"4035","article-title":"Nephrotic syndrome in familial Mediterranean fever: effect of colchicine therapy","volume":"157","author":"Hojberg, A.S.; Mertz, H.","year":"1995","unstructured":"Hojberg AS, Mertz H. Nephrotic syndrome in familial Mediterranean fever: effect of colchicine therapy. Ugeskr Laeger 1995;157:4035-7.","journal-title":"Ugeskr Laeger"},{"key":"ref_7","first-page":"126","article-title":"Regression of amyloidosis with colchicine in familial Mediterranean fever in an Ashkenazi patient","volume":"13","author":"Rozenbaum, M.; Rosner, I.","year":"1995","unstructured":"Rozenbaum M, Rosner I. Regression of amyloidosis with colchicine in familial Mediterranean fever in an Ashkenazi patient. Clin Exp Rheumatol 1995;13:126.","journal-title":"Clin Exp Rheumatol"},{"key":"ref_8","first-page":"1349","article-title":"The gene for familial Mediterranean fever in both Armenians and nonAshkenazi Jews is linked to the alpha globin complex on 16p: evidence for locus homogeneity","volume":"51","author":"Shohat, M.; Bu, X.; Shohat, T.","year":"1992","unstructured":"Shohat M, Bu X, Shohat T, et al. The gene for familial Mediterranean fever in both Armenians and nonAshkenazi Jews is linked to the alpha globin complex on 16p: evidence for locus homogeneity. Am J Hum Genet 1992;51:1349-54.","journal-title":"Am J Hum Genet"},{"key":"ref_9","first-page":"603","article-title":"The FMF French consortium. Localization of the familial Mediterranean fever (FMF) gene to a 250 kb interval in non-Ashkenazi Jewish haplotypes","volume":"59","year":"1996","unstructured":"The FMF French consortium. Localization of the familial Mediterranean fever (FMF) gene to a 250 kb interval in non-Ashkenazi Jewish haplotypes. Am.J Hum Genet 1996;59:603-12.","journal-title":"Am. J Hum Genet"},{"key":"ref_10","first-page":"1509","article-title":"Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16","volume":"326","author":"Pras, E.; Aksentijevich, I.; Gruberg, L.","year":"1992","unstructured":"Pras E, Aksentijevich I, Gruberg L, et al. Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. N EnglJ7Med 1992;326:1509-13."},{"key":"ref_11","article-title":"Molecular cloning: a laboratory manual. 2d ed. Cold Spring Harbor","author":"Sambrook, J.; Fritsch, E.F.; Maniatis, J.","year":"1989","unstructured":"Sambrook J, Fritsch EF, Maniatis J. Molecular cloning: a laboratory manual. 2d ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 1989."},{"key":"ref_12","first-page":"246339","article-title":"The 1993-94 Genethon human genetic linkage map","volume":"7","author":"Gyapay, G.; Morissette, J.; Vignal, A.","year":"1994","unstructured":"Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Genethon human genetic linkage map. Nat Genet 1994;7:246339.","journal-title":"Nat Genet"},{"key":"ref_13","first-page":"451","article-title":"Refined mapping of the gene causing familial Mediterranean fever by linkage and homozygosity studies","volume":"53","author":"Aksentijevich, I.; Pras, E.; Gruberg, L.","year":"1993","unstructured":"Aksentijevich I, Pras E, Gruberg L, et al. Refined mapping of the gene causing familial Mediterranean fever by linkage and homozygosity studies. 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