Abstract:

Objective 10 crystallin genes that have been reported to cause cataracts were selected to test

the self-bred congenital cataract rat model and observe the genetic mutations. Method

Using the genomes of congenital cataract rats and wild-type SD rats as templates, PCR amplification and sanger

sequencing were performed on the coding regions and non-codingregions of the 10 crystallin genes. The

gene sequences of cataract rats,wild-type SD rats and rats in the determine were compared to detenmine

whether mutations occured and further analysis was conducted to determine whether they were the

pathogrnic causes of congenital xataract in self-bred rats. Result After alignment analysis, it was found

that no mutation sites were detected in the Cryaa, Cryba1, Cryba4, Crybb1, Crybb2, and Crybb3 genes.

Four synonymous mutations and one heterozygous missense mutation were detected in Cryab, Crygc,

Crygd, and Crygs genes. Further analysis showed that missense mutation of Crygc gene was not the

pathogenic cause of congenital cataract in self-bred rats. Conclusion Congenital cataract in self-bred

rats is not caused by these 10 crystallin protein genes, and other related genes still need to be further

studied.

Key words:

congenital cataract, rat, pathogenic gene

摘要：

目的 选择已报道能导致白内障的 10 个晶状体蛋白基因对自主培育的先天性白内障大鼠模型进行检测,探

究其致病基因。 方法 以先天性白内障大鼠和野生型 SD 大鼠的基因组为模板,将 10 个晶状体蛋白基因的编码区

及外显子-内含子连接区序列进行 PCR 扩增和 Sanger 测序,比较白内障大鼠、野生型 SD 大鼠和数据库内大鼠的基

因序列,判断是否发生突变,并进一步分析是否为自主培育大鼠的先天性白内障的致病原因。 结果 序列比对分

析后发现,Cryaa、Cryba1、Cryba4、Crybb1、Crybb2、Crybb3 基因均未检测到突变位点,Cryab、Crygc、Crygd、Crygs 基因检

测到 4 个同义突变位点与一个杂合错义突变,进一步分析 Crygc 基因的错义突变并不是自主培育大鼠的先天性白

内障的致病原因。 结论 自主培育大鼠的先天性白内障不是由这 10 个晶状体蛋白基因导致的,仍需对其他相关

基因进行进一步研究。

关键词:

先天性白内障, 大鼠, 致病基因

CLC Number: 

• Q95-3