先天性白内障大鼠晶状体蛋白基因突变的筛查与鉴定  

Primary Screening Study of Crystallin Genetic Mutations in Rats with Congenital Cataract

作　　者：田小芸 尤金炜 齐晨阳 梁磊 朱培冉 李卫巍 夏欣一 TIAN Xiaoyun;YOU Jinwei;QI Chenyang;LIANG Lei;ZHU Peiran;LI Weiwei;XIA Xinyi(Laboratory Animal Department of Medical Security Center,General Hospital of Eastern Theater Command,Nanjing 210002,China;PLA Research Institute of Clinical Laboratory Medicine,General Hospital of Eastern Theater Command,Nanjing 210002,China)

机构地区：[1]东部战区总医院医疗保障中心实验动物室,南京210002 [2]东部战区总医院全军检验医学研究所,南京210002

出　　处：《实验动物科学》2024年第5期42-47,共6页Laboratory Animal Science

基　　金：实验动物专项面上项目(SYDW201710)。

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。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.

关 键 词：先天性白内障 大鼠 致病基因 

分 类 号：Q95-3[生物学—动物学]