先天性白内障家系致病基因筛查及相关生物信息学分析

发布时间：2018-01-21 09:06

本文关键词： CRYGD基因生物信息学基因突变先天性白内障　出处：《中国医科大学学报》2017年08期 　论文类型：期刊论文

【摘要】：目的直接测序检测先天性白内障家系突变,探讨先天性白内障的可能机制。方法收集1个常染色体显性遗传的先天性白内障家系,进行候选基因(CRYGD基因)外显子测序筛查突变后,利用生物数据库分析CRYGD蛋白质野生型及突变型的理化特性以及翻译后的修饰、功能域、二级结构和三级结构等。结果对CRYGD基因直接测序显示,碱基第452位插入GACT4个碱基,发生了移码突变。突变后等电点的变化影响晶状体细胞内的p H值。功能结构域变短,蛋白质内部重复性变化,从而影响蛋白功能。结论发现了CRYGD基因1个新的突变位点—Tyr151X,该突变为首次报道的由插入突变引起先天性白内障的CRYGD基因移码突变。
[Abstract]:Objective to investigate the possible mechanism of congenital cataract in Chinese pedigrees by direct sequencing. Methods an autosomal dominant pedigrees of congenital cataract were collected. The mutation was screened by sequencing the candidate gene (CRYGD) exon, and the physicochemical properties of wild type and mutant type of CRYGD protein were analyzed by biological database, as well as the modification and functional domain after translation. Results the CRYGD gene was sequenced directly, and the 452 base was inserted into the GACT4 base. The change of isoelectric point after the mutation affected the pH value of lens cells, the functional domain became shorter and the protein internal reproducibility changed. Conclusion A new mutation locus of CRYGD gene-Tyr151X was found. This mutation is the first reported CRYGD gene frameshift mutation caused by insertion mutation in congenital cataract.
【作者单位】：沈阳市第四人民医院眼科;中国医科大学附属盛京医院眼科;
【基金】：国家自然科学基金(30973276)
【分类号】：R776.1
【正文快照】： 先天性白内障是一种临床常见的晶状体疾病,主要是胎儿发育过程中晶状体代谢异常形成不同程度、不同形式的晶状体混浊,它不仅使视网膜成像模糊,而且阻止视通路发育,造成单侧或双侧的视力损害甚至失明。晶状体蛋白是重要的结构蛋白,根据晶体蛋白的分子结构分为3种,3种晶体蛋白的

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