Document Detail


Molecular analysis of MEFV gene mutations among Palestinian patients with Behcet's disease.
MedLine Citation:
PMID:  18609258     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVES: The aim of our study was to determine the prevalence of Mediterranean fever gene (MEFV) mutations among Palestinian patients with Behcet's disease (BD). METHODS: We screened 42 BD patients from the West Bank and Jerusalem for most of the MEFV mutations known to date. Patients diagnosed clinically according to the International Study Group (ISG) criteria were recruited from Makassed Islamic Charitable Hospital and private clinics. We performed the DNA testing using direct DNA sequencing of exon 10 of the MEFV gene and using the amplification refractory mutation system (ARMS) technique for mutations located in other exons. RESULTS: We found that 40.5% of the samples had nine different MEFV mutations and one polymorphism. E148Q was the most prevalent mutation, found in 38.1% of the mutated alleles. M694V, V726A, M694I, A744S, P369S, R408Q, and F479L were each detected in 4.8% of the mutated alleles studied. The polymorphism P706 was detected in 9.5% of the mutated alleles. The mutations A744S, P369S, R408Q, and F479L were reported for the first time in BD patients. V722M, a novel MEFV mutation that has not been reported before in either FMF or BD patients, was identified in this study. CONCLUSION: This study is the first genetic analysis of MEFV mutations among Palestinian BD patients. It reflects their mutations profile, providing further data that MEFV mutations are an additional genetic susceptibility factor in BD.
Authors:
S Ayesh; H Abu-Rmaileh; S Nassar; W Al-Shareef; B Abu-Libdeh; A Muhanna; F Al-Kafri
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Scandinavian journal of rheumatology     Volume:  37     ISSN:  1502-7732     ISO Abbreviation:  Scand. J. Rheumatol.     Publication Date:    2008 Sep-Oct
Date Detail:
Created Date:  2008-09-29     Completed Date:  2008-10-14     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0321213     Medline TA:  Scand J Rheumatol     Country:  Norway    
Other Details:
Languages:  eng     Pagination:  370-4     Citation Subset:  IM    
Affiliation:
Molecular Genetics Laboratory, Makassed Islamic Charitable Hospital, Jerusalem, Israel. moleclab@alqudsnet.com
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Alleles
Arabs / genetics*
Behcet Syndrome / ethnology,  genetics*
Child
Cytoskeletal Proteins / genetics*
Exons / genetics
Female
Genetic Predisposition to Disease / genetics
Humans
Male
Middle Aged
Middle East
Mutation / genetics*
Polymorphism, Genetic / genetics
Prevalence
Chemical
Reg. No./Substance:
0/Cytoskeletal Proteins; 0/marenostrin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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