Genet Med. 2008 May;10(5):349-52. doi: 10.1097/GIM.0b013e3181723cc8.

Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations.

Source

Quest Diagnostics Nichols Institute, San Juan Capistrano, California 92690, USA. mario.x.mikula@questdiagnostics.com

Abstract

PURPOSE:

To determine the carrier frequency of familial Mediterranean fever (FMF) mutations of individuals in three different US testing populations: Cystic fibrosis, Factor V Leiden, and Ashkenazi Jews.

METHODS:

DNA samples from 1234 anonymous samples were screened for 12 FMF mutations using a laboratory-developed test.

RESULTS:

Genotyping revealed carrier frequencies of 1:16, 1:46, and 1:8, respectively.

CONCLUSION:

MEFV mutation frequency seems to correlate positively with Mediterranean influence of the tested population and the high overall carrier rate for MEFV mutations in the Factor V Leiden testing population (1:46) suggests that the disease may be under-diagnosed in the US population or that the mutant alleles have a low penetrance.

PMID:: 18496034; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Full Text Sources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Medical

Supplemental Content

Save items

Related citations in PubMed

Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. [Am J Hum Genet. 1999]
Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.
Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, Oddoux C, Wood G, Azzaro MP, Palumbo G, et al. Am J Hum Genet. 1999 Apr; 64(4):949-62.
MEFV mutation carriage in Israeli Jewish individuals from ethnicities with low risk for familial Mediterranean fever. [J Hum Genet. 2009]
MEFV mutation carriage in Israeli Jewish individuals from ethnicities with low risk for familial Mediterranean fever.
Feld O, Livneh A, Shinar Y, Berkun Y, Lidar M. J Hum Genet. 2009 Jun; 54(6):369-71. Epub 2009 Apr 17.
Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state. [Am J Med Genet. 2001]
Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state.
Kogan A, Shinar Y, Lidar M, Revivo A, Langevitz P, Padeh S, Pras M, Livneh A. Am J Med Genet. 2001 Aug 15; 102(3):272-6.
Review Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. [Medicine (Baltimore). 1998]
Review Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health.
Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R, Kastner DL. Medicine (Baltimore). 1998 Jul; 77(4):268-97.
Review [Familial Mediterranean Fever (FMF): from diagnosis to treatment]. [Sante. 2004]
Review [Familial Mediterranean Fever (FMF): from diagnosis to treatment].
Medlej-Hashim M, Loiselet J, Lefranc G, Mégarbané A. Sante. 2004 Oct-Dec; 14(4):261-6.

See reviews... See all...

Cited by 2 PubMed Central articles

Review Clinical immunology review series: An approach to the patient with a periodic fever syndrome. [Clin Exp Immunol. 2011]
Review Clinical immunology review series: An approach to the patient with a periodic fever syndrome.
Lachmann HJ. Clin Exp Immunol. 2011 Sep; 165(3):301-9. Epub 2011 Jul 7.
Developments in the scientific and clinical understanding of autoinflammatory disorders. [Arthritis Res Ther. 2009]
Developments in the scientific and clinical understanding of autoinflammatory disorders.
Lachmann HJ, Hawkins PN. Arthritis Res Ther. 2009; 11(1):212. Epub 2009 Jan 30.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (GeneRIF)
Gene records that have the current articles as Reference into Function citations (GeneRIFs). NLM staff reviewing the literature while indexing MEDLINE add GeneRIFs manually.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in...
Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations.
Genet Med. 2008 May ;10(5):349-52. doi: 10.1097/GIM.0b013e3181723cc8.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations.

Source

Abstract

PURPOSE:

METHODS:

RESULTS:

CONCLUSION:

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Cited by 2 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information