Open AccessThe Spectrum of MEFV Gene Mutations and Genotypes in the Middle Northern Region of Turkey
Author(s) -
Gökçe Celep,
Zeynep Hülya Durmaz,
Yalciner Erdogan,
Seviye Akpinar,
Saban Abdullah Kaya,
Rıdvan Güçkan
Publication year - 2019
Publication title -
the eurasian journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.337
H-Index - 13
eISSN - 1308-8742
pISSN - 1308-8734
DOI - 10.5152/eurasianjmed.2019.18396
Subject(s) - mefv , familial mediterranean fever , compound heterozygosity , genotype , genetics , mutation , allele , medicine , haplotype , linkage disequilibrium , gene mutation , allele frequency , gene , biology , disease
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.