家族性地中海热患者中缺失外显子 2 的 MEFV 转录本表达增加。
Increased expression of exon 2 deleted MEFV transcript in familial Mediterranean fever patients.
机构信息
Molecular Biology Genetics and Biotechnology Graduate Program, Institute of Science and Technology, Istanbul Technical University, Istanbul, Turkey.
出版信息
Int J Immunogenet. 2011 Aug;38(4):327-9. doi: 10.1111/j.1744-313X.2011.01015.x. Epub 2011 May 25.
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.
摘要
MEFV 基因表达调控的缺陷与家族性地中海热（FMF）的发病机制有关。在这里，我们发现 FMF 患者第二外显子缺失的 MEFV 转录本表达水平明显高于健康对照组（P=0.026）。我们的结果还指出，缺失 MEFV 转录本的外显子 2 在 FMF 发病机制中可能起作用。
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