Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients

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 r...

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Published inHuman mutation Vol. 15; no. 4; p. 384
Main Authors Medlej-Hashim, Myrna, Rawashdeh, Mohammed, Chouery, Eliane, Mansour, Issam, Delague, Valérie, Lefranc, Gérard, Naman, Roger, Loiselet, Jacques, Mégarbané, André
Format Journal Article
LanguageEnglish
Published New York John Wiley & Sons, Inc 01.04.2000
Hindawi Limited
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Summary: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.
Bibliography:ark:/67375/WNG-F61FRJQ7-5
ArticleID:HUMU19
Saint Joseph University for Scientific Research
istex:EB6B57F4974B7B049F1E1B1F4FEF8BFD3760B3F2
Human Mutation
Online Citation
Mutation in Brief #310 (1999) Online
http://journals.wiley.com/1059‐7794/pdf/mutation/310.pdf
Communicated by: Mark H. Paalman
ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:1059-7794
1098-1004
DOI:10.1002/(SICI)1098-1004(200004)15:4<384::AID-HUMU19>3.0.CO;2-U