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先天性白内障是儿童常见的致盲性眼病,约有1/3是遗传性的,其遗传方式有常染色体显性、常染色体隐性和X连锁遗传3种,其中常染色体显性先天性白内障(autosomal dominant congenital cataract,ADCC)最为常见。随着分子遗传学技术的发展,对先天性白内障发病的分子机制已取得较人的进展。迄今为止,已发现至少有20多个位点的突变能导致ADCC的发生,其中有17个基因被完全克隆出米。在所有已确定突变基因的家系中,有1/2以上是晶状体蛋白基因发生突变,约有1/4是缝隙连接蛋白基因突变,其余包括MIP26,BFSP2,FTL以及转录调节因子基因MAF,PITX3,HSF4,PAX6等。本文主要就上述基因在ADCC发病机制中的作用作一综述。
Congenital cataract is common in children with blinding eye disease, about 1/3 is hereditary, and its genetic patterns are autosomal dominant, autosomal recessive and X-linked genetic 3, including autosomal dominant congenital cataract (autosomal dominant congenital cataract, ADCC) the most common. With the development of molecular genetics, the molecular mechanism of congenital cataract has made more progress. To date, mutations in at least 20 loci have been found to cause ADCC, with 17 of them completely cloned. In all the families of the mutated genes, more than one-half of them have the mutation of the lens protein gene, about 1/4 of which is the gap junction protein gene mutation, and the others include MIP26, BFSP2, FTL and transcriptional regulatory factors MAF, PITX3, HSF4, PAX6 and so on. This article mainly reviews the role of these genes in the pathogenesis of ADCC.