摘要
目的探讨CRYAB基因与先天性白内障的关系。方法本研究对一个先天性白内障家系进行调查和资料收集,抽取家系所有人和100名正常对照者外周静脉血,采用聚合酶链式反应(polymerase chain reaction,PCR)技术扩增疾病相关候选基因目的片段,对扩增产物进行双向测序,分析致病基因,预测基因改变对相应蛋白质是否影响。结果基因测序结果显示CRYAB基因第一外显子区域的第59位碱基发生了C>G的改变(c.59C>T),此突变为错义突变,致使翻译的脯氨酸变为精氨酸;该突变使突变位点和附件区域氨基酸疏水性增大,且突变较大可能为有害突变。结论本次研究发现一个先天性白内障家系中CRYAB c.59C>G突变,该突变为错义突变,进一步支持了CRYAB基因与先天性白内障的关系。
Objective To investigate the relationship between CRYAB gene and congenital cataract. Methods A pedigree with congenital cataract was investigated and collected into this study,and the peripheral venous blood was extracted from all family members and other 100 normal controls. Polymerase chain reaction（ PCR） technology was used to amplify the target fragment of disease-related candidate genes,and the amplified products were bidirectionally sequenced to analyze causative gene and predict whether the gene changes affected the corresponding proteins. Results Gene sequencing results revealed that the59 th base of the first exon region of CRYAB gene had a C G change（ c. 59 C T）. This mutation was a missense mutation that caused translational proline into arginine. This mutation increased the hydrophobicity of amino acid at the mutation sites and accessory regions,and that mutation might be a harmful mutation. Conclusion This study identifys a CRYAB c. 59 C G mutation in a pedigree with congenital cataract. This mutation is a missense mutation,and further supports the relationship between CRYAB gene and congenital cataract.
作者
刘娴
李文峰
LIU Xian;LI Wenfeng(Department of Ophthalmology,First Affiliated Hospital of Nanyang Medical College,Nanyang Henan 473000,Chin)
出处
《华南国防医学杂志》
CAS
2018年第7期460-462,494,共4页
Military Medical Journal of South China
基金
河南省医学科技攻关计划项目(201403165)
