Ayesh S, Abu-Rmaileh H, Nassar S, Al-Shareef W, Abu-Libdeh B, Muhanna A, Al-Kafri F
Molecular Genetics Laboratory, Makassed Islamic Charitable Hospital, Jerusalem, Israel.
Scand J Rheumatol. 2008 Sep-Oct;37(5):370-4. doi: 10.1080/03009740801998788.
The aim of our study was to determine the prevalence of Mediterranean fever gene (MEFV) mutations among Palestinian patients with Behcet's disease (BD).
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.
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.
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.
我们研究的目的是确定巴勒斯坦白塞病（BD）患者中地中海热基因（MEFV）突变的患病率。
我们对来自约旦河西岸和耶路撒冷的42例BD患者进行了迄今已知的大多数MEFV突变的筛查。根据国际研究小组（ISG）标准临床诊断的患者是从马卡塞德伊斯兰慈善医院和私人诊所招募的。我们使用MEFV基因第10外显子的直接DNA测序以及针对位于其他外显子的突变使用扩增阻滞突变系统（ARMS）技术进行DNA检测。
我们发现40.5%的样本有9种不同的MEFV突变和1种多态性。E148Q是最常见的突变，在38.1%的突变等位基因中被发现。M694V、V726A、M694I、A744S、P369S、R408Q和F479L在每个被研究的突变等位基因中的检出率均为4.8%。多态性P706在9.5%的突变等位基因中被检测到。A744S、P369S、R408Q和F479L突变首次在BD患者中被报道。本研究中鉴定出一种新型的MEFV突变V722M，此前在家族性地中海热（FMF）或BD患者中均未报道过。
本研究是对巴勒斯坦BD患者中MEFV突变的首次基因分析。它反映了他们的突变谱，提供了进一步的数据表明MEFV突变是BD中的另一个遗传易感性因素。
