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BIGH3相关性角膜营养不良是临床上一种较常见的致盲性遗传眼病,大多为单基因常染色体显性遗传。其防治的关键在于通过揭示更多BIGH3基因的突变位点及其相关发病机制,以提供准确的临床诊断和基因治疗。近年来的研究表明,位于BIGH3基因4、11、12、14号突变位点外显子上的突变类型可能通过改变其表达蛋白(KE蛋白)的结构、诱导凋亡、影响蛋白的黏附爬行功能等机制引起角膜异常蛋白沉积而致病。就目前国内外该病分子遗传学方面的研究做一简要综述。
BIGH3-related corneal dystrophy is a more common clinical blindness genetic eye disease, mostly single-gene autosomal dominant inheritance. The key to its prevention and treatment is to provide accurate clinical diagnosis and gene therapy by revealing more mutation sites of BIGH3 gene and its related pathogenesis. In recent years, studies have shown that the mutation type located on the exon of BIGH3 gene mutation No. 4,11,12,14 may induce apoptosis by affecting the structure of its expressed protein (KE protein) and affect the adhesion and crawling function of the protein Mechanism caused by abnormal protein deposition and corneal disease. On the current domestic and foreign disease molecular genetics research to make a brief review.