The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (KahramanmaraAY) of Turkey
The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (KahramanmaraAY) of Turkey
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DOI：
10.1007/s00296-015-3329-7
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发表时间：
2016-01-01
影响因子：
4
通讯作者：
Altunoren, Orcun
中科院分区：
文献类型：
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作者：
Kilinc, Metin;Ganiyusufoglu, Eda;Altunoren, Orcun
家族性地中海热（FMF）是一种常染色体隐性遗传病。关于这一问题已经做了很多研究，我们认为有必要关注表型-基因型相关性，特别是新的突变类型。我们的目的是宣布在卡赫拉曼马拉斯/土耳其的FMF序列分析的结果。受试者人数为380名男性和451名女性，临床诊断为不同年龄组的FMF受试者。通过序列分析仪扫描MEFV基因的外显子2和10的基因组序列以及在某些情况下的外显子3的突变。在230例（57.07%）患者中发现的最常见突变为杂合子。在杂合子受试者中，突变类型的频率分别为R202 Q（39.13%）、E148 Q（18.70%）、M680 I（16.52%）、M694 V（13.91%）和V726 A（4.78%）。复合杂合子中最引人注目的是R202 Q/M694 V突变型，其发生率最高（32例）。发热和腹膜炎是纯合子M694 V和联合收割机杂合子突变的最常见体征。有趣的是，在所有复合纯合突变类型中，纯合突变类型（M694 V/M694 V + R202 Q/R202 Q）的比率为96.70%。纯合子患者中最常见的是M680 I突变类型（占所有纯合子突变类型的68.42%）。本研究发现两个新的突变：N206 K（p.Asn206Lys）和S208 T（p.Ser208Tyr）。我们在这项研究中的FMF序列分析的结果是从土耳其的其他地区获得的结果不同。
Familial Mediterranean fever (FMF) is defined as an inherited and autosomal recessive disease. Many researches have been done about this subject, and we believe that it should be necessary to focus on phenotype-genotype correlation, especially novel mutation types. We aim to announce the results of FMF sequence analysis in Kahramanmaras/Turkey. The number of participants is 380 males and 451 females who clinically diagnosed as FMF subjects of different age groups. Genomic sequences of exons 2 and 10 and in some cases exon 3 of the MEFV gene were scanned for mutations by sequence analyzer. The most common mutation identified in 230 (57.07 %) patients is heterozygous. The frequencies of mutation types in heterozygous subjects are R202Q (39.13 %), E148Q (18.70 %), M680I (16.52 %), M694V (13.91 %), and V726A (4.78 %), respectively. The most striking point among the compound heterozygous subjects is R202Q/M694V mutation type found at the highest rate (32 subjects). Fever and peritonitis are the most frequent signs of homozygous M694V and combine heterozygous mutations. Interestingly, the rate of homozygous mutation types (M694V/M694V+ R202Q/R202Q) is 96.70 % among all compound homozygous mutation types. The most frequent rate of homozygous patients is M680I mutation types (68.42 % in all homozygous mutation types). Two novel mutations were found in this study: N206K (p.Asn206Lys) and S208T (p.Ser208Tyr). Our findings in this study on the FMF sequence analysis are different from the results obtained from the other regions of Turkey.