Document Detail


Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population.
MedLine Citation:
PMID:  11464248     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Familial Mediterranean Fever (FMF) is a recessive disorder characterised by episodes of fever and neutrophil-mediated serozal inflammation. The FMF gene (MEFV) was recently identified and four common mutations characterised. The aim of this study was to determine the carrier rate in the Turkish population and the mutation frequency in the clinically diagnosed FMF patients. We found a high frequency of carriers in the healthy Turkish population (20%). The distribution of the five most common MEFV mutations among healthy individuals (M694V 3%, M680I 5%, V726A 2%, M694I 0% and E148Q 12%) was significantly different (P<0.005) from that found in patients (M694V 51.55%, M680I 9.22%, V726A 2.88%, M694I 0.44% and E148Q 3.55%).
Authors:
E Yilmaz; S Ozen; B Balci; A Duzova; R Topaloglu; N Besbas; U Saatci; A Bakkaloglu; M Ozguc
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  9     ISSN:  1018-4813     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2001 Jul 
Date Detail:
Created Date:  2001-07-20     Completed Date:  2001-08-30     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  553-5     Citation Subset:  IM    
Affiliation:
Hacettepe University, Faculty of Medicine, Department of Medical Biology, Ankara, Turkey. engin@gen.hun.edu.tr
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MeSH Terms
Descriptor/Qualifier:
Alleles
Familial Mediterranean Fever / genetics*
Female
Gene Frequency
Heterozygote*
Humans
Male
Mutation
Mutation, Missense
Turkey

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