X连锁先天性视网膜劈裂症家系的RS1基因变异分析  

Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters

作　　者：罗萍 刘艳秋 邢雪莎[1] 刘琦[1] 罗阳[1] Luo Ping;Liu Qiuyan;Xing Xuesha;Liu Qi;Luo Yang(Department of Medical Genomics,Key Laboratory of Medical Cell Biology of the Ministry of Education,School of Life Sciences,China Medical University,Shenyang,Liaoning 110122,China;Department of Ophthalmology,Anshan Central Hospital,Anshan,Liaoning 114000,China)

机构地区：[1]中国医科大学生命科学学院医学基因组学教研室教育部医学细胞生物学重点实验室,沈阳110122 [2]鞍山市中心医院立山院区眼科,鞍山114000

出　　处：《中华医学遗传学杂志》2022年第4期378-382,共5页Chinese Journal of Medical Genetics

基　　金：教育部"创新团队发展计划"项目(IRT13101)。

摘　　要：目的探讨一个X连锁先天性视网膜劈裂症家系的遗传学病因。方法收集X连锁先天性视网膜劈裂症家系临床资料,采用聚合酶链式反应和Sanger测序法筛查先证者RS1基因外显子及其侧翼序列的变异位点,采用限制性片段长度多态性聚合酶链式反应分析家系成员和100名无关正常人的相应位点,应用生物信息学方法预测该变异位点致病性。结果该家系中的患者均有RS1基因c.458T>G(p.Val153Gly)变异,家系内正常人及无关正常对照者不含该变异,携带者存在杂合变异,生物信息学分析表明该变异具有致病性。结论RS1基因c.458T>G(p.Val153Gly)变异可导致X连锁先天性视网膜劈裂症。Objective To explore the genetic basis for a Chinese pedigree affected with X-linked retinoschisis.Methods Clinical data of the pedigree was collected.Following DNA extraction,PCR and Sanger sequencing were carried out to detect potential variant in the RS1 gene.The result was verified by using PCR and restriction fragment length polymorphism assay.Results All male patients were found to harbor a c.458T>G(p.Val153Gly)variant of the RS1 gene,for which Their mothers were heterozygous carriers.The same variant was not detected among unaffected members of the pedigree as well as 100 healthy controls.Bioinformatic analysis suggested the variant to be pathogenic.Conclusion The c.458T>G(p.Val153Gly)variant of the RS1 gene probably underlay the X-linked retinoschisis in this pedigree.

关 键 词：X连锁先天性视网膜劈裂症 基因变异 RS1基因 限制性片段长度多态性聚合酶链式反应 

分 类 号：R774.1[医药卫生—眼科]