先天性白内障的基因诊断

Gene diagnosis of congenital cataract

先天性白内障是儿童常见的致盲性眼病。与遗传有关的先天性白内障有多种遗传方式,其致病基因、基因突变的位点和引起先天性白内障的表现型相继被发现。到目前为止,分子遗传学的研究证明与先天性白内障有关的致病基因有16个,共有40多个基因位点与先天性白内障有关。先天性白内障的基因型和表现型的关系逐步明确,使先天性白内障的基因诊断,特别是产前诊断成为可能。

Congenital cataract is one of the major causes of blindness and vision impairment in children. There are three kinds of inherited patterns including autosomal dominant, autosomal recessive and X-linked recessive in inherited congenital cataract. With the development of molecular biology techniques, 16 genes of congenital cataract have been mapped and more than 40 locations and candidate locations have been identified. It has already found that crystallin gene, membrane protein gene, cytoskeletal protein gene,homeobox gene and heat shock protein gene are pathogenic genes of congenital cataract. The research emphasize on genetic factor,genie mutation and the relationship between genotype and phenotype,which makes the gene diagnosis of congenital cataract, especially prenatal diagnosis. Gene diagnosis is significant to congenital cataract families to predict and diagnose inherited cataract.