桥粒芯糖蛋白1和2在不同表皮肿瘤中的表达

目的 探讨桥粒相关蛋白与皮肤肿瘤的关系,对桥粒芯糖蛋白1和2在鳞状细胞癌、日光性角化病、角化棘皮瘤、脂溢性角化病中的表达水平进行了比较研究.方法 免疫组化染色方法.结果 桥粒芯糖蛋白1和2在正常皮肤表皮全层细胞间呈现较强的染色,鳞状细胞癌组织中表达显着减弱或完全无表达,日光性角化病表皮正常区域表达正常或下调,细胞间变区域无染色,角化棘皮瘤和脂溢性角化病表皮中表达水平与正常皮肤的表达非常近似.结论 桥粒芯糖蛋白1和2在恶性皮肤癌中表达下调,可能与皮肤肿瘤的侵袭和转移有关.     

首发精神分裂症患者血清SIOOB蛋白水平的研究

目的探讨首发精神分裂症患者的血清S100B蛋白水平与精神分裂症及其认知功能的关系。方法纳入符合美国精神障碍诊断与统计手册第4版（DSM-Ⅳ）精神分裂症诊断标准的首发精神分裂症患者（以下简称患者组）40例和正常对照者（以下简称对照组）40例，检测血清S100B蛋白水平，同时应用阳性和阴性症状量表（PANSS）和威斯康星卡片分类测验（WCST）韦氏记忆量表（WMS）评定患者的病情和认知功能，并进行两组间比较。结果患者组血清S100B蛋白水平明显高于对照组（P〈0．001）。患者组WCST的完成分类数得分低于对照组（P=0．004），而错误应答数、完成第一个分类所需应答数、持续性错误数、持续性应答和持续性错误百分数均高于对照组（P值均〈0．05），患者组WMS的长时记忆、短时记忆、瞬时记忆和记忆商数均低于对照组（P〈0．001）。患者组血清S100B蛋白水平与PANSS的总分、阴性症状分呈正相关（r分别为0．317、0．405，P均〈0．05），与WCST中的错误应答数、持续性应答及非持续性错误数呈正相关（r分别为0．393、0．359和0．378，P均〈0．05），与WMS中的短时记忆呈负相关（r为-0．320，P〈0．05）。结论首发精神分裂症患者血清S100B蛋白水平明显高于正常，其水平升高越明显，表明精神分裂症的严重程度和认知损害程度就越重。     

糖尿病人群中胰岛素和游离脂肪酸水平的相关性研究

目的探讨糖尿病人群中胰岛素和游离脂肪酸水平的相关性。方法选取2009年1月至2014年8月成都市第四人民医院就诊的2型糖尿病患者及同期门诊体检的健康人群,观察比较各人群各项生化指标。结果 2组人群生化特征比较,其中体质量指数、空腹血糖、餐后2h血糖、空腹血清胰岛素(FINS)、三酰甘油、高密度脂蛋白胆固醇、游离脂肪酸(FFA)、胰岛素敏感指数(IAI)差异有统计学意义(P0.05);糖尿病组中FINS与FFA呈正相关(r=0.678,P0.05),IAI与FFA呈负相关(r=-0.654,P0.05)。健康组FINS与FFA呈正相关,相关系数为0.447(P0.05)。结论糖尿病人群血清FFA升高,胰岛素分泌增加,IAI下降,而健康人群血清FFA升高与胰岛素分泌增加有关。     

Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome

Mammalian embryos can only survive if they attach to the uterus (implantation) and establish proper maternal-fetal interactions. To understand this complex implantation pathway, we have initiated genomic analysis with a systematic study of the cohort of genes expressed in extraembryonic cells that are derived from the conceptus and play a major role in this process. A total of 2103 cDNAs from the extraembryonic portion of 7.5-day post-conception mouse embryos yielded 3186 expressed sequence tags, approximately 40% of which were novel to the sequence databases. Furthermore, when 155 of the cDNA clones with no homology to previously detected genes were genetically mapped, apparent clustering of these expressed genes was detected in subregions of chromosomes 2, 7, 9 and 17, with 6.5% of the observed genes localized in the t-complex region of chromosome 17, which represents only approximately 1.5% of the mouse genome. In contrast, X-linked genes were under-represented. Semi-quantitative RT-PCR analyses of the mapped genes demonstrated that one third of the genes were expressed solely in extraembryonic tissue and an additional one third of the genes were expressed predominantly in the extraembryonic tissues. The over-representation of extraembryonic-expressed genes in dosage- sensitive autosomal imprinted regions and under-representation on the dosage-compensated X chromosome may reflect a need for tight quantitative control of expression during development.      

Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy

Previous reports have established that the telomeric copy of the survival motor neuron (SMNT) gene and the intact copy of the neuronal apoptosis inhibitory protein (NAIP) gene are preferentially deleted in patients with spinal muscular atrophy (SMA). Although deletions or mutations in the SMNT gene are most highly correlated with SMA, it is not clear to what extent NAIP or other genes influence the SMA phenotype, or whether a small fraction of SMA patients actually have functional copies of both SMNT and NAIP. To evaluate further the part of SMNT in the development of SMA, we analyzed 280 asymptomatic SMA family members for the presence or absence of SMNT exons 7 and 8. We report the following observations: (i) 4% of the sample harbored a polymorphic variant of SMNT exon 7 that looks like a homozygous deletion; (ii) approximately 1% of the parents are homozygously deleted for both exons 7 and 8; (iii) one asymptomatic parent lacking both copies of SMNT exons 7 and 8 displays a 'subclinical phenotype' characterized by mild neurogenic pathology; (iv) another asymptomatic parent lacking both SMNT exons showed no signs of motor neuron disorder by clinical and neurodiagnostic analyses. The demonstration of polymorphic variants of exon 7 that masquerade as homozygous nulls, and the identification of SMA parents who harbor two disease alleles, serve as a caution to those conducting prenatal tests with these markers.