The Spectrum of MEFV Gene Mutations and Genotypes in the Middle Northern Region of Turkey
The Spectrum of MEFV Gene Mutations and Genotypes in the Middle Northern Region of Turkey
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DOI：
10.5152/eurasianjmed.2019.18396
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发表时间：
2019-10-01
影响因子：
1.5
通讯作者：
Guckan, Ridvan
中科院分区：
文献类型：
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作者：
Celep, Gokce;Durmaz, Zeynep Hulya;Guckan, Ridvan
目的：家族性地中海热（FMF）是一种常见的、遗传性、常染色体隐性遗传的儿童炎症性疾病。FMF的诊断是基于临床特征和阳性家族史，并得到基因检测的支持。为了解安纳托利亚北方某城市地中海热（MEFV）基因变异的频率和分布，采用实时荧光定量聚合酶链反应（PCR）技术，对374例初诊为FMF的儿童进行为期1年的MEFV基因突变检测，筛选出12种突变。在213例患者（57%）中检测到至少一种突变，38种基因型中有11种不同的突变。14例（6.4%）为纯合子，6例（2.8%）为复合纯合子，3例（1.4%）为复合纯合子。R202 Q是最常见的突变，频率为50.1%。R202 Q/M694 V是最常见的复合杂合子基因型。在43个等位基因中，发现R202 Q-M694 V突变处于连锁不平衡。在我们的队列中，M694 V，E148 Q，V726 A和M6801（G/C）是其他常见突变;而F479 L，A7445，K695 R，P3695，M6941和R761 H是罕见突变。结论：我们首次确定了本地区儿童中最常见的MEFV变异流行率。本研究的显著结果是高的R202 Q突变率和连锁不平衡率。
Objective: Familial Mediterranean fever (FMF) is a common, inherited, autosomal recessive inflammatory disease in children. The diagnosis of FMF is based on clinical features and positive family history supported with genetic testing. This study aimed to determine the frequency and distribution of Mediterranean fever (MEFV) gene alterations of a city in Northern Anatolia.Materials and Methods: We evaluated MEFV gene mutations in 374 children preliminary diagnosed as FMF by a commercial kit based on real-time polymerase chain reaction technique in a one-year period, and screened 12 mutations.Results: At least one mutation was detected in 213 patients (57%) and 38 genotypes with 11 distinct mutationsA total of 137 (64.3%) of mutation-positive children were heterozygous, 45 (21. 1%) were compound heterozygous, and 2 (0.9%) were complex heterozygous; and 14 (6.4%) patients were homozygous, 6 (2.8%) were compound homozygous, and 3 (1.4%) were complex homozygous. With a frequency of 50.1%, R202Q was the most common mutation. Also, R202Q/M694V was the most common compound heterozygous genotype. In 43 alleles, R202Q-M694V mutations were found to be in linkage disequilibrium. In our cohort, M694V, E148Q, V726A, and M6801 (G/C) were other common mutations; whereas F479L, A7445, K695R, P3695, M6941, and R761H were the rare mutations. None of our patients had M6801 (GA) mutation.Conclusion: We determined the most common MEFV alteration prevalence in children of our region for the first time. The high R202Q mutation and linkage disequilibrium (LD) rates were the remarkable results of this study.