ISSN 1308-8734 | E-ISSN 1308-8742
Original Article
The Spectrum Of MEFV Gene Mutations And Genotypes In The Middle Northern Region Of Turkey
1 Amasya University Medical Faculty, Sabuncuoğlu Şerefeddin Education and Research Hospital, Department of Paediatrics, Amasya  
2 Amasya University Medical Faculty, Sabuncuoğlu Şerefeddin Education and Research Hospital, Department Biochemistry, Amasya  
3 Amasya University Medical Faculty, Sabuncuoğlu Şerefeddin Education and Research Hospital, Department of Paediatric Surgery, Amasya  
4 Amasya University Medical Faculty, Sabuncuoğlu Şerefeddin Education and Research Hospital, Department of Microbiology, Amasya  
Eurasian J Med ; : -
DOI: 10.5152/eurasianjmed.2019.18396
Key Words: MEFV mutations, FMF, R202Q, Northern Anatolia
Abstract

Objectives: Familial Mediterranean fever (FMF) is a common, inherited, autosomal recessive inflammatory illness in children. The diagnosis of FMF is based on clinical features and positive family history supported with genetic testing. The aim of this study is to determine the frequency and distribution of Mediterranean fever (MEFV) gene alterations of a city in Northern Anatolia.

 

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 twelve mutations.

 

Results: At least one mutation was detected in 213 patients (57%) and 38 genotypes with eleven distinct mutations. One hundred and thirty-seven (64. 3%) of mutation positive children were heterozygous, 45 (21. 1%) were compound heterozygous, 2 (0.9%) were complex heterozygous and 14 (6.4%) patients were homozygous, 6 (2.8%) were compound homozygous, 3 (1.4%) were complex homozygous. R202Q was the most common mutation with a frequency of 50.1%. Also R202Q/M694V was the most common compound heterozygous genotype. In 43 alleles R202Q - M694V mutations were found to be in linkage disequilibrium. M694V, E148Q, V726A, M680I (G/C) were other common mutations whereas F479L, A744S, K695R, P369S, M694I, R761H were the rare mutations of our cohort. None of our patients had M680I (G/A) 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 rates were remarkable results of this study.

 

You may cite this article as: Celep G, Durmaz ZH, Erdoğan Y, Akpinar S, Kaya ŞA, Güçkan R. The Spectrum Of MEFV Gene Mutations And Genotypes In The Middle Northern Region Of Turkey. Eurasian J Med 2019; DOI: 10.5152/eurasianjmed.2019.18396.

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