Molecular analysis of MEFV gene mutations among Palestinian patients with Behcet's disease.
OBJECTIVE
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.


CONCLUSIONS
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.
Ayesh
S
S
Molecular Genetics Laboratory, Makassed Islamic Charitable Hospital, Jerusalem, Israel. moleclab@alqudsnet.com
Abu-Rmaileh
H
H
Nassar
S
S
Al-Shareef
W
W
Abu-Libdeh
B
B
Muhanna
A
A
Al-Kafri
F
F
D000293:Adolescent; D000328:Adult; D000483:Alleles; D018912:Arabs / Q000235:genetics*; D001528:Behcet Syndrome / Q000208:ethnology / Q000235:genetics*; D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D008877:Middle East; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D015995:Prevalence; D000071198:Pyrin
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin