Common Familial Mediterranean Fever gene mutations in a Turkish cohort
Common Familial Mediterranean Fever gene mutations in a Turkish cohort
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DOI：
10.1007/s11033-010-0652-7
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发表时间：
2011-11-01
影响因子：
2.8
通讯作者：
Baskol, Mevlut
中科院分区：
文献类型：
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作者：
Dundar, Munis;Emirogullari, Elif Funda;Baskol, Mevlut
家族性地中海热（FMF）是一种常染色体隐性自身炎症性疾病，主要影响犹太人，亚美尼亚人，土耳其人和阿拉伯人。FMF基因（MEFV）最近被克隆到染色体16 p，其编码pyrin。在本研究中，我们招募了2006-2009年间在安纳托利亚中部疑似FMF的2，067名无关患者，并确定了12种MEFV突变。PCR扩增DNA，反向杂交检测MEFV基因突变。在2，067例患者中，866例（41.9%）为男性，1，201例（58.1%）为女性。纯合子突变176例（16.85%），复合杂合子突变314例（30.1%），杂合子突变546例（52.25%），其他突变8例（0.76%）。在1,023例（49.5%）患者中未检测到突变。最常见的突变是M694 V、M680 I（G/C）、E148 Q和V726 A。我们没有发现两种常见突变在性别上有任何显著差异。MEFV基因突变在土耳其人口中的高发病率表明，新生儿筛查可能会在未来讨论。由于安纳托利亚的种族起源，更大的系列分析是必要的，以调查这些突变的速度和共存。
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 16p, 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.