Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients

Ritis, Konstantinos; Giaglis, Stavros; Spathari, N; Micheli, Andrea; Zonios, Dimitrios I.; Tzoanopoulos, D; Deltas, Constantinos; Rafail, Stavros; Mean, Richard; Papadopoulos, Vassilios; Tzioufas, Athanasios G.; Moutsopoulos, H. M.; Kartalis, G

doi:10.1136/ard.2003.009258

Cited by 41 publications

(41 citation statements)

References 16 publications

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“…Not all investigators used exhaustive mutation detection methods, such as sequencing or NIRCA (Ritis et al, 2004), therefore the percentage of FMF patients without any mutation at all might be slightly smaller. Nevertheless, in two recent studies (Fragouli et al, 2008;Giaglis et al, 2007), where the whole MEFV coding sequence was examined, this percentage was again considerable: 16.9% (for Greeks) and 16.4% (for Cretans).…”

Section: Discussionmentioning

confidence: 99%

The Population Genetics of Familial Mediterranean Fever: A Meta‐Analysis Study

Papadopoulos

Giaglis

Mitroulis

et al. 2008

Annals of Human Genetics

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SummaryOur aim was to construct a Familial Mediterranean Fever (FMF) cumulative database and to propose a MEFV based phylogenetic tree. Data were collected from published studies. A meta-analysis based on 16,756 chromosomes from FMF patients and normal individuals from 14 affected populations was performed. Arlequin 2.0 and Phylip 3.2 software were used for population genetics analysis and phylogenetic tree construction.We have shown that MEFV mutations are distributed non-uniformly along the Mediterranean Sea area. The most frequent mutations detected in FMF patients are M694V

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Section: Discussionmentioning

confidence: 99%

The Population Genetics of Familial Mediterranean Fever: A Meta‐Analysis Study

Papadopoulos

Giaglis

Mitroulis

et al. 2008

Annals of Human Genetics

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“…NIRCA was based on previously described protocols (5) and the experimental conditions were carried out according to the instructions of MutationScreener Kit (Ambion, Austin, TX, USA). Nested amplification of exons 10 and 2 sequences provides 797-and 745-bp PCR products, respectively and the positions and sequences of primers, as well as the PCR conditions for NIRCA analysis have been previously described (5).…”

Section: Study Subjectsmentioning

confidence: 99%

“…Exons 10 and 2 of the MEFV gene were analyzed for mutations; these sequences contain the vast majority and the main disease-related mutations (4-6). Nonisotopic RNase cleavage assay (NIRCA) analysis was used as first screening method to detect mutations of MEFV as previously described (5,19). Briefly, mutations are detected by ribonuclease cleavage of both strands of duplex RNA obtained by in vitro transcription of polymerase chain reaction (PCR) products containing opposable T7 and SP6 phage promoters.…”

Section: Study Subjectsmentioning

confidence: 99%

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Increased Frequency of Mutations in the Gene Responsible for Familial Mediterranean Fever (MEFV) in a Cohort of Patients with Ulcerative Colitis: Evidence for a Potential Disease-Modifying Effect?

et al. 2006

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The MEFV gene, responsible for familial Mediterranean fever (FMF), is involved in inflammatory reactions through altered leukocyte apoptosis, secretion of interleukin (IL)-1β, and activation of the NF-κB pathway. Ulcerative Colitis (UC) and FMF are both characterized by a recurrent pattern of presentation with periods of remission and flares associated with neutrophilic infiltration at the site of injury. The aim of this study was to investigate the possible correlation between UC and MEFV gene alterations. Twenty-five consecutive, first-diagnosed and untreated UC patients, 28 control patients with rheumatoid arthritis, and 65 normal individuals were analyzed. Nonisotopic RNase Cleavage Assay (NIRCA) was applied as a first-step mutational screening method of exons 10 and 2 of MEFV gene; direct sequencing was subsequently performed to confirm the results. MEFV mutations were identified in 7 (3 M694V/0, 2 M680I/0, 1 E148Q/E148Q, and 1 A744S/0) out of 25 UC patients versus 1 (M694V/0) out of 28 rheumatoid arthritis patients (P = .0199) and 1 (M694V/0) out of 65 healthy controls (P = .0004). Four out of 7 patients with MEFV mutations had inflammatory arthritis, a clinical finding that was not observed in the 18 UC patients with unmutated MEFV (P = .0028). Patients with UC almost universally carried the T A C G MEFV exon 2 haplotype in contrast with normal individuals (P < .0001) and FMF patients (P = .0310). In conclusion the increased frequency of mutations of MEFV in UC patients, especially in those with episodic arthritis, suggests a possible modifying effect of MEFV in the disease process and its localization within the joint. The difference in distribution of MEFV exon 2 haplotypes between UC patients and both FMF patients and normal individuals, suggests that UC patients constitute a genetically distinct population. Larger, longitudinal studies are needed to confirm these initial findings.

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“…In the Greek population, however, FMF has not been thoroughly studied. Although FMF was considered to be rare among the Greeks, some recent studies reported the presence of FMF patients in Greece (Konstantopoulos et al, 2003;Ritis et al, 2004;Giaglis et al, 2007;Chalevelakis et al, 2008;Fragouli et al, 2008). A number of FMF mutations were detected in Greek patients, some with higher frequency.…”

Section: Introductionmentioning

confidence: 95%

Screening for Familial Mediterranean Fever M694V and V726A Mutations in the Greek Population

Gkretsi

Deltas

Yapijakis

et al. 2009

Genetic Testing and Molecular Biomarkers

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Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disease that primarily affects populations surrounding the Mediterranean basin. FMF patients suffer from recurrent episodes of fever accompanied by abdominal pain, pleuritis, and arthritis. Missense mutations in the gene for FMF (MEFV) have been shown to be responsible for the disease, while more than 70 mutations have been identified to date. The aim of the present study was to determine the carrier rates of two of the most common MEFV mutations, M694V and V726A, in the general Greek population. A cohort of 220 healthy and unrelated individuals of Greek descent was screened for the two MEFV mutations using the Amplification Refractory Mutation System. Our results showed that none of the healthy individuals tested were carriers of any of the two mutations. In conclusion, our study independently confirms that the carrier rate for the MEFV mutations M694V and V726A is extremely low in the general Greek population.

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Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients

Cited by 41 publications

References 16 publications

The Population Genetics of Familial Mediterranean Fever: A Meta‐Analysis Study

The Population Genetics of Familial Mediterranean Fever: A Meta‐Analysis Study

Increased Frequency of Mutations in the Gene Responsible for Familial Mediterranean Fever (MEFV) in a Cohort of Patients with Ulcerative Colitis: Evidence for a Potential Disease-Modifying Effect?

Screening for Familial Mediterranean Fever M694V and V726A Mutations in the Greek Population

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