The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey

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• 作者：Metin Kilinc ; Eda Ganiyusufoglu ; Hatice Sager ; Ahmet Celik…
• 关键词：FMF ; Kahramanmaras ; Turkey ; Mutations
• 刊名：Rheumatology International
• 出版年：2016
• 出版时间：January 2016
• 年：2016
• 卷：36
• 期：1
• 页码：25-31
• 全文大小：429 KB
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• 作者单位：Metin Kilinc (1)
  Eda Ganiyusufoglu (2)
  Hatice Sager (3)
  Ahmet Celik (1)
  Seref Olgar (4)
  Gozde Yildirim Cetin (5)
  Mehmet Davutoglu (6)
  Orcun Altunoren (7)
  
  1. Department of Medical Biochemistry, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Avsar Campus, 46050, Kahramanmaras, Turkey
  2. Department of Bioengineering, Institute of Science, Kahramanmaras Sutcu Imam University, Avsar Campus, 46050, Kahramanmaras, Turkey
  3. Department of Medical Biochemistry, Institute of Health Sciences, Kahramanmaras Sutcu Imam University, Avsar Campus, 46050, Kahramanmaras, Turkey
  4. Department of Pediatric Cardiology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Avsar Campus, 46050, Kahramanmaras, Turkey
  5. Department of Rheumatology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Avsar Campus, 46050, Kahramanmaras, Turkey
  6. Department of Pediatrics, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Avsar Campus, 46050, Kahramanmaras, Turkey
  7. Department of Nephrology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Avsar Campus, 46050, Kahramanmaras, Turkey
  
• 刊物主题：Rheumatology;
• 出版者：Springer Berlin Heidelberg
• ISSN：1437-160X

文摘

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.