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Methods of identifying genomic and proteomic biomarkers for cystic fibrosis, arrays comprising the biomarkers and methods of using the arrays

机译:鉴定用于囊性纤维化的基因组和蛋白质组生物标志物的方法,包括该生物标志物的阵列以及使用该阵列的方法

摘要

Cystic fibrosis (CF) is the most common fatal autosomal recessive disease in the U.S. and is principally caused by the DF508 mutation the CFTR gene. The principal site of morbidity and mortality for this disease is the lung. We have used genomic and proteomic methods to identify ubiquitin carboxy terminal hydrolase-1 (UCHL1) as a biomarker for cystic fibrosis. Both gene expression and cognate protein expression are massively upregulated in CF lung epithelial cells. We suggest that this gene can be useful in the assembly of a diagnostic or prognostic chip for CF, or as a target for therapeutic intervention.
机译:囊性纤维化(CF)是美国最常见的致命性常染色体隐性遗传疾病,主要由CFTR基因的DF508突变引起。该疾病的发病率和死亡率的主要部位是肺。我们已经使用基因组学和蛋白质组学方法来鉴定泛素羧基末端水解酶-1(UCHL1)作为囊性纤维化的生物标志物。在CF肺上皮细胞中,基因表达和相关蛋白表达均大量上调。我们建议该基因可用于组装CF诊断或预后芯片,或作为治疗干预的靶标。

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