Department of Medical Genetics, Erciyes University Medicine Faculty Kayseri, 38039 Kayseri, Turkey.
Mol Biol Rep. 2011 Nov;38(8):5065-9. doi: 10.1007/s11033-010-0652-7. Epub 2010 Dec 14.
Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder with the responsible gene of MEFV which primarily affects Jewish, Armenian, Turkish and Arab populations. The FMF gene (MEFV) has recently been cloned to chromosome 16 p, which encodes pyrin. In the present study, we enrolled 2,067 unrelated patients with the suspicion of FMF in Middle Anatolia between the years 2006-2009 and identified the 12 MEFV mutations. DNA was amplified by PCR and subjected to reverse hybridization for the detection of MEFV gene mutations. Among the 2,067 patients, 866 (41.9%) were males and 1,201 (58.1%) were females. The mutations were homozygous in 176 (16.85%) patients, compound heterozygous in 314 (30.1%) patients, heterozygous in 546 (52.25%) patients and the other forms of mutations were found in 8 patients (0.76%). No mutation was detected in 1,023 (49.5%) patients. The most frequent mutations were M694V, M680I (G/C), E148Q and V726A. We could not find any significant differences between the two common mutations according to the gender. The high incidence of MEFV gene mutations in the Turkish population indicated that newborn screening may be discussed in the future. Because of the ethnic origin of Anatolia, larger serial analyses are necessary to investigate the rate and coexistence of these mutations.
家族性地中海热（FMF）是一种常染色体隐性自身炎症性疾病，其致病基因是 MEFV，主要影响犹太、亚美尼亚、土耳其和阿拉伯人群。FMF 基因（MEFV）最近已被克隆到 16p 染色体，该基因编码 pyrin。在本研究中，我们在 2006-2009 年间招募了来自中安纳托利亚的 2067 名疑似 FMF 的无关患者，并鉴定了 12 种 MEFV 突变。通过 PCR 扩增 DNA，并进行反向杂交检测 MEFV 基因突变。在 2067 名患者中，866 名（41.9%）为男性，1201 名（58.1%）为女性。176 名患者（16.85%）为纯合突变，314 名患者（30.1%）为复合杂合突变，546 名患者（52.25%）为杂合突变，8 名患者（0.76%）为其他形式的突变。1023 名患者（49.5%）未检测到突变。最常见的突变是 M694V、M680I（G/C）、E148Q 和 V726A。根据性别，我们没有发现这两种常见突变之间有任何显著差异。土耳其人群中 MEFV 基因突变的高发率表明，未来可能需要讨论新生儿筛查。由于安纳托利亚的种族起源，需要进行更大的系列分析来研究这些突变的发生率和共存情况。
