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Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients
Author(s) -
MedlejHashim Myrna,
Rawashdeh Mohammed,
Chouery Eliane,
Mansour Issam,
Delague Valérie,
Lefranc Gérard,
Naman Roger,
Loiselet Jacques,
Mégarbané André
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(200004)15:4<384::aid-humu19>3.0.co;2-u
Subject(s) - familial mediterranean fever , mefv , serositis , biology , genetics , allele , mutation , compound heterozygosity , gene mutation , gene , immunology , arthritis , medicine , disease
Familial Mediterranean fever is an autosomal recessive disorder characterised by episodic fever, abdominal and pleuritic pain, serositis and arthritis. The FMF gene (MEFV) has been mapped to chromosome 16p13.3 and generates a protein found exclusively in granulocytes. Seventeen mutations have been reported up to the present in FMF patients. This study involves the screening of 14 mutations in 42 Jordanian patients by two methods: RFLP and ARMS. The most frequent mutations were M694V and V726A (20% and 14% of the alleles respectively), followed by M680I and E148Q (9.5% and 7% of the alleles respectively). The A744S mutation accounts for 2.5% and the M694I, T267I and F479L mutations account each for 1% of the alleles. E167D, R761H, P369S, I692del and M694del mutations were not found in this population. Forty‐four percent of the alleles did not have any of the 14 mutations. The results show the diversity and the frequency of the mutations in the Jordanian patients, and open the way for further investigations on patients diagnosed to have FMF and in whom no mutations were found. Hum Mutat 15:384, 2000. © 2000 Wiley‐Liss, Inc.