ArticleCell journal2013
Mediterranean Fever gene analysis in the azeri turk population with familial mediterranean Fever: evidence for new mutations associated with disease.
Article in Cell journal, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Rheumatology training and research in Iran.Rheumatology international · 2019Pooled it
- Updates on the molecular spectrum ofFrontiers in genetics · 2024Article
- R202Q prevalence in clinically diagnosed Familial Mediterranean Fever patients: 9 years of data analysis from 1570 patients living Central Black Sea region, Turkey.Irish journal of medical science · 2023Article
- Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings.Molecular biology reports · 2021Article
- Spectrum ofMedical sciences (Basel, Switzerland) · 2020Article
- Molecular Analysis of MEFV Gene Polymorphisms and Mutations in Iranian Azeri Patients with Rheumatoid Arthritis.Iranian journal of public health · 2016Article
- Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.Journal of genetics · 2016Article
- The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey.Rheumatology international · 2016Article
- Screening of the most common MEFV variants in 416 patients of familial mediterranean fever living in Northwest of Iran.Journal of advanced pharmaceutical technology & researchArticle
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveFamilial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent febrile attacks accompanied by serosal and synovial membrane inflammation. FMF is caused by mutations in the MEFV gene and are found usually among Mediterranean populations, Armenians, Turks, Arabs and Jews. The aim of this study was to determine the frequency of MEFV gene mutations among FMF patients in the Azeri Turk population in North-West of Iran. MATERIALS AND
methodsIn this descriptive study, 130 FMF patients with Azeri Turk origin were screened for mutations in four exons (2, 3, 5 and10) of MEFV gene. Genomic DNA was extracted from whole blood and entered in ARMS-PCR and PCR-RFLP reactions. When cases were negative in ARMS-PCR and PCR-RFLP, the exons were amplified and subjected to direct sequencing.
resultsOur results showed that the most common mutations in this study population was M694V (40.19%) followed by E148Q (17.64%), V726A (13.72%), M680I (12.74%) and M694I (2.94%) mutations. Four new mutations including K618N, K716M, S614F and G136E were identified in our study.
conclusionThe prevalence of five common mutations in our study was highly similar to previous studies analysing the Mediterranean basin populations. Investigation by sequencing also revealed four new variants in the study population. The main genotypephenotype correlation finding was the presence of M694V mutation in homozygote or compound heterozygote state in the patients with renal manifestations.
Indexed as
Identifiers
23862117PMC3712776W2144667635What OpenQuestion holds
Registered trials
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