目的：应用生物信息学方法分析视网膜母细胞瘤(retinoblastoma，RB)基因表达谱芯片，从转录水平探讨RB与正常视网膜组织的差异表达基因(differentially expressed genes，DEGs)的功能及相互作用。方法：通过公共基因表达数据库(gene expression omnibus，GEO)数据库中选取GSE97508和GSE110811两个芯片数据，共有34个RB组织和6个正常视网膜组织。利用GEO2R工具对和Draw Venn Diagrams软件，筛选出正常视网膜组织与RB组织间的DEGs。通过在线STRING检索工具(search tool for the retrieval of interacting genes，STRING)，对DEGs进行基因本体注释(gene ontology，GO)、KEGG富集通路分析、蛋白互作(protein-protein interaction，PPI)K分析。结果：在2个芯片中发现视网膜母细胞瘤共有20个DEGs，包括3个上调DEGs和17个下调DEGs，GO本体注释结果显示表达上调DEGs所富集的功能主要在细胞分裂、染色体浓缩、核分裂和DNA构象改变。下调DEGs主要富集在光传导、视觉感知、光感受器细胞修复、感光细胞内外节和调节视紫红质介导的信号通路等。KEGG通路显示上调DEGs没有显著的信号通路，下调DEGs参与光传导信号通路，其中包括CNGA1，CNGB1，RHO，SAG四个基因，通过PPI网络提示这4个基因相互联系，并发现与其他节点连接最紧密核心基因RHO。结论：利用生物信息学方法能有效对RB基因芯片数据进行挖掘，为进一步研究RB发生发展机制及寻找潜在的药物治疗靶点提供参考。

Objective: To find differentially expressed genes between retinoblastoma and normal retinal tissues by bioinformatics analysis, and to investigate their molecular function and interactions in the transcriptional level.Methods: The gene expression profile datasets GSE97508 and GSE110811, including 34 retinoblastoma (RB) tissues and 6 normal retinal tissues, were downloaded from gene expression omnibus (GEO). Differentially expressed genes (DEGs) between normal retinal tissues and RB tissues were identified by GEO2R tool and the Draw Venn Diagrams software. The gene ontology (GO) analysis, KEGG pathway and protein-protein interaction (PPI) were analyzed by STRING. Results: In two microarrays of retinoblastoma we found total 20 DEGs were identified, including 3 up-regulated and 17 down-regulated genes. The GO ontology annotation results showed that the enrichment functions of up-regulated genes were mainly in cell division, chromosome enrichment, nuclear division, and DNA conformation change. Down-regulated genes were mainly concentrated in light conduction,visual perception, photoreceptor cell repair, photoreceptor cell inner and outer segment, and regulation of rhodopsin mediated signaling pathway. The KEGG pathway showed that there was no significant signal pathway in which up-regulated genes up-regulated DEGs, and down-regulated genes were involved in the phototransduction signaling pathway, including four genes of CNGA1, CNGB1, RHO and SAG. PPI network suggested that these four genes were interlinked, and RHO was found to be the most closely connected core gene with other nodes.Conclusion: Bioinformatics can be used effectively to analyze RB microarray data to provide theoretical reference for further exploration of tumorigenesis mechanism and help search for potential drug therapeutic targets.

目的：探讨基因多态性与2型糖尿病(type 2 diabetes mellitus，T2DM)患者发生增生性糖尿病性视网膜病变(proliferative diabetic retinopathy，PDR)的相关性。方法：2019年1月至2020年9月桂林医学院附属医院收治的700名T2DM患者，分为无糖尿病性视网膜病变(non-diabetic retinopathy，NDR)组(n=386)与PDR组(n=314)。收集临床基本资料，抽取患者外周血，使用竞争性等位基因特异性聚合酶链反应(kompetitive allele specific polymerase chain reaction，KASP)基因分型检测法检测两组患者血清中的内皮素-1(endothelin 1，EDN1)基因的rs5370位点和补体因子H(complement factor H，CFH)基因的rs800292位点基因型。用logistic回归分析这2个基因位点的多态性与广西汉族T2DM患PDR的关系。结果：收缩压、使用胰岛素治疗以及肾小球滤过率(glomerular filtration rate，GFR)的分析结果显示两组间差异有统计学意义(P_收缩压=0.025，P_胰岛素=0.001，PGFR=0.013)。排除以上混杂因素后，EDN1基因的rs5370位点上TT基因型与PDR易感性呈正相关(P=0.03，OR=2.973；adj.P=0.011，OR=2.718)；CFH基因的rs800292位点上AA基因型与PDR易感性呈正相关(P=0.037，OR=1.949；adj.P=0.044，OR=2.058)。结论：收缩压增高、GFR降低可能与T2DM患者发生PDR相关。EDN1基因的rs5370位点与CFH基因的rs800292位点的多态性与广西汉族人群的PDR易感性显著相关。

Objective: To investigate the relationship between gene-polymorphisms and proliferative diabetic retinopathy in patients who have type 2 diabetes mellitus (T2DM). Method: A total of 700 hospitalized T2DM patients were included in this study from January 2019 to September 2020. They were divided into two groups: the no-diabetic retinopathy (NDR) group (n=386) and the proliferative diabetic retinopathy (PDR) group (n=314). Basic clinical data were collected, and clinical indexes affecting diabetic retinopathy were analyzed. Two tag SNPs rs5370 in endothelin 1 (EDN1) and rs800292 in complement factor H (CFH) were examined using kompetitive allele-specific polymerase chain reaction (KASP) genotyping assays. Logistic regression was used to analyse the relationship between the polymorphisms of these two SNPs and PDR in a Guangxi Han population with T2DM. Results: Significant differences were found through the analysis of the systolic blood pressure—whether using insulin or not—and the glomerular filtration rate (GFR) between the two groups (P_{systolic blood pressure}=0.025, P_insulin=0.001, P_GFR=0.013) The TT genotype of rs5370 was determined to be associated with an increased risk of PDR (P=0.03, OR=2.973; adj.P=0.011, OR=2.718). The AA genotype of rs800292 was also determined to be associated with an increased risk of PDR (P=0.037, OR=1.949; adj.P=0.044, OR=2.058). Conclusion: Increased systolic blood pressure and decreased GFR may be associated with PDR in patients with T2DM. The rs5370 polymorphism of the EDN1 gene and the rs800292 polymorphism of the CFH gene are significantly associated with the risk of PDR in Guangxi’s Han population.

目的：建立能驱动GFP在视网膜神经节细胞(retinal ganglion cell，RGC)中特异性表达的小鼠胚胎干细胞系。方法：通过同源重组的方式建立Brn3b-GFP敲入的小鼠胚胎干细胞系(Brn3b-GFP ESC)，利用3D培养将其诱导成视网膜类器官检测GFP表达的细胞特异性，再用流式细胞分选富集GFP阳性RGC，采用玻璃体腔注射的方式将GFP阳性RGC移植到健康小鼠和NMDA损伤模型小鼠眼中探索该细胞的应用价值。结果：Brn3b-GFP ESC经3D视网膜诱导培养后在RGC中特异性表达GFP，将这些GFP阳性RGC移植到两种小鼠中2周后能在所有视网膜内观察到GFP阳性细胞存活，且均能观察到有供体RGC整合到宿主视网膜RGC层。结论：本研究建立了RGC特异的报告基因干细胞系Brn3b-GFP ESC，通过将该细胞系诱导成视网膜类器官进而获得的GFP阳性RGC移植后能够整合进宿主视网膜。该细胞系的建立将为青光眼及相关疾病提供重要的研究手段和工具。

Objective: This study was designed to establish a mouse embryonic stem cell line that can drive GFP expression specifically in retinal ganglion cells (RGCs). Methods: In this study, we established a Brn3b-GFP knock-in embryonic stem cell line (Brn3b-GFP ESC) by homologous recombination. By 3D culture, we induced these cells into retinal organoids to investigate the cell-specificity of GFP expression. GFP-positive RGCs were then enriched by flow cytometry and transplanted by intravitreal injection into the eyes of healthy mice and NMDA injury model mice to explore the feasibility of a potential clinical application. Results: GFP was specifically expressed in RGCs following induction of Brn3b-GFP ESCs into 3D retinal organoids. Two weeks after these GFP-positive RGCs were transplanted into the control and injured mice, GFP-positive cells were observed in all transplanted retinas, and donor RGCs were seen to integrate into the RGC layer of the host retina. Conclusion: This study has established a retinal ganglion cell-specific reporter stem cell line Brn3b-GFP ESC. The GFP-positive RGCs obtained by inducing the cell line into retinal organoids can be integrated into the host retina after transplantation. The establishment of such a cell line will provide an important research tool for glaucoma and related diseases.

特发性先天性眼球震颤(idiopathic congenital nystagmus，ICN)是一种常见的眼科疾病，患者常有明显的特征性的眼部异常，多伴有学习、社交障碍，对其身心健康影响较大。ICN遗传倾向明显，多表现为X染色体连锁(显性或隐性)，目前研究发现以FRMD7基因突变致病较为显著。近10余年来，国内外学者们在遗传学方面针对ICN和FRMD7基因做了大量的研究工作，取得了令人瞩目的结果。本文就2006年以来研究者们在FRMD7基因所致X连锁ICN的突变类型及位点作一总结，归纳并探讨FRMD7突变可能的致病机制，旨在为学者们提供以往研究结果的查证和未来研究方向的参考。

Idiopathic congenital nystagmus (ICN) is a common ophthalmic disease in which patients often have obvious and characteristic eye abnormalities. ICN patients are often accompanied by learning and social disorders, have a great impact on their physical and mental health. ICN which has an obvious genetic tendency and is mostly manifested as X chromosome linkage (dominant or recessive). Current studies have found that the mutation of FRMD7 gene is the most significant pathogenic factor. In the past 10 years, researchers have done a lot of work on the genetics of ICN and FRMD7 gene, and achieved remarkable results. This review summarizes the typ mutations caused by FRMD7 gene since 2006, and also discusses the possible pathogenesis of FRMD7 mutations, aiming to provide references for scholars to verify previous research results and future research directions.