LEOPARD综合征一家系PTPN11基因突变分析

【摘要】 目的 明确1个LEOPARD综合征家系的PTPN11基因突变。方法 对中国科学院大学宁波华美医院确诊的1例LEOPARD综合征先证者的家系进行现场调查。提取家系内4例患者、2例健康成员及与该家系无关的100例健康对照外周血标本。PCR扩增PTPN11基因所有外显子，使用Sanger测序法进行突变位点分析。结果 该家系3代14人，其中6人患病（男3例，女3例），符合常染色体显性遗传。患者皮损主要分布于面部、躯干和四肢，具有特殊面容及心血管系统异常。4例患者存在PTPN11基因的错义突变c.1632G＞T（p.R558L），导致第558位由精氨酸变为亮氨酸，该突变既往未曾报道。该家系2例健康成员及100例健康对照未发现PTPN11基因突变。结论 该LEOPARD综合征家系患者PTPN11基因13号外显子发生c.1632G＞T错义突变，可能是该家系患者发病的分子基础。     

弥漫型大B细胞淋巴瘤EZH2、XIAP和Survivin蛋白表达水平及意义

目的探讨弥漫型大B细胞淋巴瘤Zeste同源物增强子2(EZH2)、X连锁凋亡抑制蛋白(XIAP)和生存素(Survivin)蛋白表达水平及意义。方法选取弥漫型大B细胞淋巴瘤组织92例作为观察组,同时选取反应性增生淋巴结组织50例作为对照组,采用免疫组化染色法检测EZH2、XIAP和Survivin蛋白表达。结果观察组EZH2、XIAP和Survivin蛋白阳性表达率分别为77.17%、55.43%和60.87%,明显高于对照组(P<0.05)。观察组临床分期Ⅲ~Ⅳ期EZH2、XIAP和Survivin蛋白表达阳性率分别为90.70%、86.05%和81.40%,明显高于临床分期Ⅰ~Ⅱ期(P<0.05);EZH2与XIAP、Survivin蛋白表达呈正相关(γ=0.547、0.360,P均<0.05),XIAP与Survivin蛋白表达呈正相关(γ=0.581,P<0.05)。结论弥漫型大B细胞淋巴瘤EZH2、XIAP和Survivin蛋白表达水平上调,与临床分期有一定关系,三者间存在相关关系。     

Identification of key genes and pathways in discoid lupus skin via bioinformatics analysis

Discoid lupus erythematosus (DLE) is the most common skin manifestation of lupus; however, the molecular mechanisms underlying DLE remain unknown. Therefore, we aimed to identify key differentially expressed genes (DEGs) in discoid lupus skin and investigate their potential pathways.To identify candidate genes involved in the occurrence and development of the disease, we downloaded the microarray datasets {"type":"entrez-geo","attrs":{"text":"GSE52471","term_id":"52471"}}GSE52471 and {"type":"entrez-geo","attrs":{"text":"GSE72535","term_id":"72535"}}GSE72535 from the Gene Expression Database (GEO). DEGs between discoid lupus skin and normal controls were selected using the GEO2R tool and Venn diagram software (http://bioinformatics.psb.ugent.be/webtools/Venn/). The Database for Annotation, Visualization, and Integrated Discovery (DAVID), Enrichr, and Cytoscape ClueGo were used to analyze the Kyoto Encyclopedia of Gene and Genome pathways and gene ontology. Protein-protein interactions (PPIs) of these DEGs were further assessed using the Search Tool for the Retrieval Interacting Genes version 10.0.Seventy three DEGs were co-expressed in both datasets. DEGs were predominantly upregulated in receptor signaling pathways of the immune response. In the PPI network, 69 upregulated genes were selected. Furthermore, 4 genes (CXCL10, ISG15, IFIH1, and IRF7) were found to be significantly upregulated in the RIG-I-like receptor signaling pathway, from analysis of Enrichr and Cytoscape ClueGo.The results of this study may provide new insights into the potential molecular mechanisms of DLE. However, further experimentation is required to confirm these findings.