Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2001-07

AUTHORS

Engin Yilmaz, Seza Ozen, Banu Balcı, Ali Duzova, Rezan Topaloglu, Nesrin Besbas, Umit Saatci, Aysin Bakkaloglu, Meral Ozguc

ABSTRACT

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%). More... »

PAGES

5200674

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200674

DOI

http://dx.doi.org/10.1038/sj.ejhg.5200674

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1001982403

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11464248


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