Oztuzcu Serdar, Ulaşlı Mustafa, Ergun Sercan, Iğci Yusuf Ziya, Iğci Mehri, Bayraktar Recep, Nacarkahya Gülper, Tamer Ali, Cevik Muammer Ozgür, Cakmak Ecir Ali, Arslan Ahmet
Department of Medical Biology, Faculty of Medicine, University of Gaziantep, Şehitkamil, 27310, Gaziantep, Turkey,
Mol Biol Rep. 2014;41(4):2601-7. doi: 10.1007/s11033-014-3118-5. Epub 2014 Jan 28.
Familial mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder (MIM# 249100), particularly common in populations of Mediterranean extraction. MEFV gene, responsible for FMF, encoding pyrin has recently been mapped to chromosome 16p13.3. In the present study, 3,341 unrelated patients with the suspicion of FMF in south-east part of Turkey between the years 2009 and 2013 were enrolled and genomic sequences of exon 2 and exon 10 of the MEFV gene were scanned for mutations by direct sequencing. We identified 43 different type of mutations and 9 of them were novel. DNA was amplified by PCR and subjected to direct sequencing for the detection of MEFV gene mutations. Among the 3,341 patients, 1,598 (47.8 %) were males and 1,743 (52.1 %) were females. The mutations were heterozygous in 806 (62.3 %), compound heterozygous in 188 (14.5 %), homozygous in 281 (21.8 %) and mutations had complex genotype in 17 (1.32 %) patients. No mutation was detected in 2,051 (61.4 %) patients. The most frequent mutations were M694V, E148Q, M680I(G/C) and V726A. We could not find any significant differences between the two common mutations according to the gender. Molecular diagnosis of MEFV is a useful tool in clinical practice, thus a future study relating to genotype/phenotype correlation of FMF in more and larger group in Turkish population involving the whole MEFV gene mutations is necessary.
家族性地中海热（FMF）是一种常染色体隐性自身炎症性疾病（MIM# 249100），在地中海血统人群中尤为常见。负责FMF的MEFV基因编码的pyrin最近已被定位到16号染色体p13.3区域。在本研究中，纳入了2009年至2013年间土耳其东南部3341例疑似FMF的非亲属患者，并通过直接测序扫描MEFV基因外显子2和外显子10的基因组序列以检测突变。我们鉴定出43种不同类型的突变，其中9种为新突变。通过聚合酶链反应（PCR）扩增DNA并进行直接测序以检测MEFV基因突变。在3341例患者中，1598例（47.8%）为男性，1743例（52.1%）为女性。突变中杂合子为806例（62.3%），复合杂合子为188例（14.5%），纯合子为281例（21.8%），17例（1.32%）患者的突变具有复杂基因型。2051例（61.4%）患者未检测到突变。最常见的突变是M694V、E148Q、M680I(G/C)和V726A。根据性别，我们未发现这两种常见突变之间存在任何显著差异。MEFV的分子诊断在临床实践中是一种有用的工具，因此有必要在涉及整个MEFV基因突变的更多、更大规模的土耳其人群中开展一项关于FMF基因型/表型相关性的未来研究。
