Medlej-Hashim M, Rawashdeh M, Chouery E, Mansour I, Delague V, Lefranc G, Naman R, Loiselet J, Mégarbané A
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
Hum Mutat. 2000 Apr;15(4):384. doi: 10.1002/(SICI)1098-1004(200004)15:4<384::AID-HUMU19>3.0.CO;2-U.
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.
家族性地中海热是一种常染色体隐性疾病，其特征为发作性发热、腹痛、胸膜炎性疼痛、浆膜炎和关节炎。家族性地中海热基因（MEFV）已被定位于16号染色体p13.3，并产生一种仅在粒细胞中发现的蛋白质。截至目前，已报道家族性地中海热患者中有17种突变。本研究采用限制性片段长度多态性（RFLP）和等位基因特异性扩增（ARMS）两种方法，对42例约旦患者的14种突变进行筛查。最常见的突变是M694V和V726A（分别占等位基因的20%和14%），其次是M680I和E148Q（分别占等位基因的9.5%和7%）。A744S突变占2.5%，M694I、T267I和F479L突变各占等位基因的1%。在该人群中未发现E167D、R761H、P369S、I692del和M694del突变。44%的等位基因未出现这14种突变中的任何一种。结果显示了约旦患者中突变的多样性和频率，为进一步研究诊断为家族性地中海热但未发现突变的患者开辟了道路。《人类突变》15:384，2000年。
