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Increased expression of exon 2 deleted MEFV transcript in familial Mediterranean fever patients.

Kirectepe, A K; Erdem, G Celikyapi; Senturk, N; Arisoy, N; Hatemi, G; Ozdogan, H; Kasapcopur, O; Tahir Turanli, E.

Int J Immunogenet ; 38(4): 327-9, 2011 Aug.

Article in English | MEDLINE | ID: mdl-21615705

ABSTRACT

A defect in MEFV gene expression regulation has been implicated in familial Mediterranean fever (FMF) etiopathophysiology. Here we show significantly higher expression level in second exon lacking MEFV transcript in FMF patients compared with healthy controls (P=0.026). Our results also point out a possible role of exon 2 deleted MEFV transcript in FMF pathogenesis.

Subject(s)

Cytoskeletal Proteins/genetics , Exons/genetics , Familial Mediterranean Fever/genetics , Gene Expression Regulation , Sequence Deletion/genetics , Alternative Splicing/genetics , Case-Control Studies , Humans , Pyrin , RNA Splice Sites/genetics , RNA, Messenger/genetics , Transcription, Genetic

ABSTRACT

Subject(s)

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