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.     

骨质疏松相关基因的研究进展

骨质疏松(osteoporosis,OP)在很大程度上受基因的影响。在OP的相关基因中,维生素D受体(VDR)基因、雌激素受体(ER)基因、Ⅰ型胶原基因及转化生长因子基因都是重要的候选基因。VDR基因中BB基因型者比Bb及bb基因型者的腰椎骨密度(bone mineral density,BMD)低,骨丢失率高。FokⅠ基因型与腰椎BMD降低有明显相关性,ff基因型者腰椎BMDXx基因型者>xx基因型者。Ⅰ型胶原基因与骨量呈显著相关性,COLIA1基因突变可致低骨量、骨脆性增加。转化生长因子β(TGF-β)基因对调节骨形成和骨吸收有重要作用,TGF-β基因中可发生碱基丢失,这种变异多见于OP患者。     

人脑星形细胞肿瘤中FHIT、PCNA蛋白表达关系的研究

目的研究人脑星形细胞肿瘤中FHIT、PCNA蛋白的差异表达，探讨它们与病理分级之间的关系。方法应用免疫组化SP法检测了50例星形细胞肿瘤中不同级别的FHIT、PCNA蛋白的表达水平，以10例非肿瘤脑组织作对照。结果非肿瘤脑组织FHIT、PCNA蛋白阳性表达率分别为100％，0％，星形细胞肿瘤中FHIT、PCNA蛋白阳性表达率分别为40％，86％；尽管在星形细胞肿瘤中FHIT、PCNA蛋白表达总体差异有统计学意义（P〈0．05），但Ⅲ级与Ⅳ级比较差异无统计学意义（P〉0．05）；经统计学分析FHIT、PCNA蛋白呈显著负相关（P〈0．01）。结论FHIT、PCNA蛋白的表达可能与星形细胞肿瘤的恶性程度有关，星形细胞肿瘤中FHIT、PCNA蛋白表达之间的显著负相关，提示FHIT蛋白可能对细胞增殖具有负性调控作用。     

抑癌基因KLF-6和APC在结直肠癌组织中的表达及临床意义

目的 研究抑癌基因KLF-6和APC在结直肠癌中的表达规律及其临床意义。方法 应用RT-PCR和免疫组织化学法对32例结直肠癌组织和正常黏膜组织中KLF-6和APC基因mRNA及蛋白的表达进行检测和分析。结果 KLF-6与APC的mRNA阳性表达率在结直肠癌组织中分别为37、5％和34，3％，明显低于正常结直肠黏膜组织的96．9％和93．8％（P〈0．05）。KLF-6与APC的免疫组化染色阳性表达率在结直肠癌组织中分别为28．1％和25．0％，明显低于正常结直肠黏膜组织的81．3％和84．4％（P〈0．05）。KLF-6与APC在结直肠癌中的表达存在相关性（P〈0．05），并与肿瘤组织的分化程度、浸润深度、淋巴结转移及临床分期均有明显相关性（P〈0．05）。结论 抑癌基因KLF-6和APC的低表达可能与结直肠癌的发生、发展、转移及预后有关，且两者存在相关性。     

犬MC1R基因多态性的研究

目的 利用PCR—RFLP和PCR—SSCP技术分别检测犬MC1R基因中两个序列T105A和R306Ter的基因多态性，为遗传育种、培育出更加优良的实验用犬奠定基础。方法 以224只犬为实验材料，对犬MC1R基因T105A片段和R306Ter片段分别进行PCR-RFLP和PCR—SSCP分析，并且分别对具有RFLP和SSCP多态性的片段进行克隆测序，找出等位基因的差异位点。结果 经对犬MClR基因的PCR-RFLP分析，发现犬MC1R基因的T105A序列具有多态性，表现为三种基因型：AA、AB和BB。通过对具有RFLP多态性的片段进行克隆测序发现MC1R基因在编码第105位氨基酸的密码子处存在由G到A的单碱基突变，该突变导致第105位氨基酸发生由精氨酸向苏氨酸的改变，此外在第207位氨基酸的密码子处还发现由A到G的单碱基突变，并产生了一个HhαI限制性内切酶位点。同时，经过犬MC1R基因的PCR—SSCP分析，发现犬MC1R基因的R306Ter序列具有多态性，表现为三种基因型：CC、CD、DD.通过对具有SSCP多态性的片段进行了克隆测序发现，MC1R基因在编码第306位氨基酸的密码子处存在一个由CGA到TGA的终止突变，而使翻译终止。结论 利用PCR—RFLP和PCR—SSCP分析技术证实犬MC1R基因具有明显的多态性。     

Localized proton magnetic resonance spectroscopy of a cerebellar tumor in a two-year-old child

Noninvasive localized proton magnetic resonance spectroscopy (MRS) was used for differential diagnosis of a focal brain lesion in a 2.5-year-old girl. The clinical signs were a mild head tilt and neck pain. Magnetic resonance imaging (MRI) revealed a lesion in the right hemisphere of the cerebellum, but its nature remained obscure. In this lesion quantitative determinations of cerebral metabolites by fully relaxed, short-echo-time proton MRS revealed markedly lowered N-acetylaspartate (NAA) and pronounced elevations of choline-containing compounds (Cho) and myo-inositol (Ins), whereas metabolite concentrations in cortical gray matter and white matter were within normal ranges. The metabolite pattern of the lesion indicated loss of vital neuroaxonal tissue (low NAA) and enhanced glial proliferation (high Cho and Ins), which, together with the MRI morphology, suggested a brain tumor. The diagnosis was established by neurosurgical exploration and total extirpation of the tumor. Histology confirmed an astrocytoma (WHO II). After 2 weeks' recovery the child was discharged with no neurological signs.     

一种较好的RNA分离制备方法及其在人胚RNA提取中的应用

以钒基核苷酸复合物为核酸酶抑制剂,从人胚组织中制备总RNA,所得产品几乎不含DNA和蛋白质,经过分离Poly(A)~ mRNA,证明制品有合成cDNA的完整功能,方法比较简捷,适于大量制备以满足分离mRNA 之需,并讨论了此法的优缺点。     

Pin1和周期素D1在胰腺癌中的表达及其意义

目的:检测胰腺癌及癌旁组织中Pin1和周期素D1基因的表达,探讨Pin1在胰腺癌发病中所起的作用。方法:收集27例胰腺肿瘤组织及其相应的肿瘤旁组织标本,采用实时荧光定量逆转录聚合酶链反应法（RQ RT-PCR）检测胰腺良恶性肿瘤及肿瘤旁组织中Pin1和周期素D1 mRNA 的表达,运用Fisher精确概率分析两者之间的相关性及其与肿瘤临床分期和病理特征的关系。结果:7例胰腺囊腺瘤中周期素D1和Pin1的表达与肿瘤旁组织之间无显著性差异;而20例胰腺癌中周期素D1和Pin1的表达明显高于肿瘤旁组织［（2.78±1.02）vs.（4.36±1.27）和(5.48±1.69) vs. (9.97±1.86),P<0.05）］。Pin1和周期素D1与肿瘤的临床分期和病理分化程度无明显的相关（组间差异均为P>0.05）,但Pin1与周期素D1的表达有关（P<0.01）。 结论:胰腺癌中Pin1的过表达可促进周期素D1表达,由此诱导了肿瘤的发生;Pin1可能在胰腺癌中起着重要作用。     

nm23基因在前列腺癌中的表达与癌转移的关系

应用ＬＳＡＢ免疫组织化学染色方法，研究转移抑制基因ｎｍ２３表达产物二磷酸核苷激酶（ＮＤＰＫ）在前列腺癌中的表达及其意义。结果表明，ＮＤＰＫ／ｎｍ２３在前列腺癌中有较高的表达，阳性率为５００％（２０／４０）。无前列腺癌转移者其阳性率为６６７％（１２／１８），有前列腺癌转移者其阳性率为３６４％（８／２２），两者比较差异有显著性（Ｐ＜００５），并与前列腺癌分化程度和临床分期有显著相关。因此，ｎｍ２３基因可能在前列腺癌形成及转移过程中起不同的调节作用，其表达程度与前列腺癌转移呈负相关，有可能成为评价前列腺癌病人预后的一项新指标。