Comprehensive Analysis of a Large-Scale Screen for MEFV Gene Mutations: Do They Truly Provide a "Heterozygote Advantage" in Turkey?
Küçük Resim Yok
Tarih
2011
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Mary Ann Liebert Inc
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder characterized by episodes of inflammation in the absence of high-titer autoantibodies or antigen-specific T cells. The Mediterranean fever (MEFV) gene located on chromosome 16p13.3, which encodes the 781-amino-acid protein pyrin, is the causative gene for this monogenic Mendelian disease. This study presents the molecular analysis of an MEFV gene mutation screen of 5518 Turkish individuals with clinical diagnoses of FMF. Patients were genetically diagnosed using the FMF StripAssay and DNA sequencing analysis. Contrary to the results achieved by the FMF StripAssay, DNA sequencing analysis identified large-scale coding and noncoding novel sequence variants, together with a significant group (76%) of individuals who were receiving colchicine and had a single heterozygous mutation, despite the recessive inheritance of FMF. In conclusion, sequence analysis, unlike other routine laboratory techniques, may enable screening for a broad range of nucleotide variations and may prevent less common, population-restricted, novel sequence variants from being overlooked.
Açıklama
Anahtar Kelimeler
Kaynak
Genetic Testing and Molecular Biomarkers
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
15
Sayı
07.Aug
