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51.
多重连接探针扩增方法在假肥大性肌营养不良产前基因诊断中的应用 总被引:3,自引:0,他引:3
假肥大性肌营养不良(Duchenne/Becker muscular dystrophy, DMD/BMD)是一种由于DMD基因突变导致的X连锁隐性致死性遗传病。目前没有有效的治疗方法。为建立一种既可以对携带者进行检测又可以进行产前基因诊断的方法, 文章联合应用多重连接探针扩增技术(Multiplex ligation-dependent probe amplification, MLPA)和短串联重复序列(Short tandem repeats , STR)为遗传标记连锁分析的方法对26例有高风险再生育患儿的假肥大性肌营养不良家系的孕妇通过羊水穿刺进行产前基因诊断。26例进行产前基因诊断的羊水标本中有7例诊断为男性患儿, 4例诊断为女性携带者。MLPA可以作为筛查DMD基因缺失和重复突变的首选方法。联合应用MLPA和STR连锁分析, 可以提高假肥大性肌营养不良的产前基因诊断率。 相似文献
52.
Hua Zhou Chunlei Yao Ao Bian Jun Qian Xiufen Zhao Yanting Zhao Weiwei Wang Changying Xing 《Molecular and cellular biochemistry》2014,391(1-2):21-25
Podocyte injury may contribute to the pathogenesis of diabetic nephropathy (DN), but the underlying mechanism of hyperglycemia induced podocyte damage is not fully understood. The Ras GTPase-activating-like protein IQGAP1 is associated to the slit diaphragm proteins and the actin cytoskeleton in podocyte. Here, we studied IQGAP1 expression alterations in human DN biopsies and extracellular signal-regulated kinase (ERK)-dependent pathways of IQGAP1 expression in podocyte under high glucose (HG) media. In vivo, analysis of renal biopsies from patients with DN revealed a significant reduction in IQGAP1 expression compared to controls. In vitro, IQGAP1 mRNA and protein expression were observed to decline under HG media at 48 h. But phosphorylation of ERK1/2 was activated under HG media at 24 h and 48 h. However, HG-induced downregulation of IQGAP1 protein was attenuated by specific ERK1/2 activation inhibitor PD98059. Taken together, these results highlight the importance of IQGAP1 in DN, and suggest that IQGAP1 expression in podocyte under HG media is modulated by the ERK1/2 pathway, which may lead to the future development of therapies targeting IQGAP1 dysfunction in podocytes in DN. 相似文献
53.
AcMNPV ORF9编码病毒核衣壳蛋白P78/83,该蛋白在宿主细胞内以磷酸化和去磷酸化两种形式存在,能够与细胞骨架成分肌动蛋白相互作用,序列分析表明其具有与WASP蛋白类似的结构,推测可能在病毒粒子的包装、运输等过程中起重要作用.本文利用Bac-to-Bac系统构建了P78/83与绿色荧光蛋白融合表达的重组AcMNPV,激光共聚焦显微镜观察表明,重组病毒感染Sf21细胞12h后绿色荧光主要集中分布于细胞质中,24h及以后绿色荧光主要集中分布于细胞核中.感染试验表明,超表达P78/83对病毒的生长无明显的影响. 相似文献
54.
Yi-pin Lv Qian Wang Chun-chen Wu Rong-juan Pei Yuan Zhou Yun Wang Xin-wen Chen 《中国病毒学》2011,26(4):245-251
Protein phosphorylation is one of the most common post-translational modification processes that play an essential role in regulating protein functionality.The Helicoverpa armigera single nucleopolyhedrovirus (HearNPv) orf2-encoded nucleocapsid protein HA2 participates in orchestration of virus-induced actin polymerization through its WCA domain,in which phosphorylation status are supposed to be critical in respect to actin polymerization.In the present study,two putative phosphorylation sites (232Thr and 250Ser) and a highly conserved Serine (245Ser) on the WCA domain of HA2 were mutated,and their phenotypes were characterized by reintroducing the mutated HA2 into the HearNPV genome.Viral infectivity assays demonstrated that only the recombinant HearNPV bearing HA2 mutation at 245Ser can produce infectious virions,both 232Tbr and 250Ser mutations were lethal to the virus.However,actin polymerization assay demonstrated that all the three viruses bearing HA2 mutations were still capable of initiating actin polymerization in the host nucleus,which indicated the putative phosphorylation sites on HA2 may contribute to HearNPV replication through another unidentified pathway. 相似文献
55.
Development of microbial biofilms and the recruitment of propagules on the surfaces of man-made structures in the marine environment cause serious problems for the navies and for marine industries around the world. Current antifouling technology is based on the application of toxic substances that can be harmful to the natural environment. For this reason and the global ban of tributyl tin (TBT), there is a need for the development of "environmentally-friendly" antifoulants. Marine microbes are promising potential sources of non-toxic or less-toxic antifouling compounds as they can produce substances that inhibit not only the attachment and/or growth of microorganisms but also the settlement of invertebrate larvae and macroalgal spores. However, so far only few antilarval settlement compounds have been isolated and identified from bacteria. In this review knowledge about antifouling compounds produced by marine bacteria and diatoms are summarised and evaluated and future research directions are highlighted. 相似文献
56.
57.
基于生态效率理论和TOPSIS法的工业园区循环经济发展评价 总被引:5,自引:0,他引:5
工业园区层面的生态效率评价是生态效率研究领域有待深入探索的课题。TOPSIS方法则可能是适用于生态效率评价的一种方法,它以空间统计学为基础,借助于多目标决策问题的理想解和负理想解来进行排序,能够客观地比较和评价不同样本点综合指标的优劣。本文根据生态效率和循环经济理论,结合《综合类生态工业园区标准(试行)》,建立工业园区循环经济评价指标体系,运用TOPSIS方法对苏州高新区、苏州工业园区生态工业园和无锡新区生态工业示范园区的生态效率进行综合评价,结果表明:三者的生态效率综合排名由高到低依次为:无锡新区生态工业示范园区> 苏州工业园区生态工业园> 苏州高新区,且3园区在经济发展、资源能源利用率、物质循环利用、环境污染控制等子系统有所优劣。并针对各园区的各自存在的不足提出了相应的改进和发展建议。 相似文献
58.
从广西九里香根中分离到两个咔吧唑生物碱和一个甾醇,经波谱方法鉴定为九里香叶甲碱(1),九里香碱(2)和β-谷甾醇。 相似文献
59.
Mouse thymic stromal cell line 4 (MTSC4) is one of the stromal cell lines established in our laboratory. While losing the characteristics of epithelial cells, they express some surface markers shared with thymic dendritic cells (TDCs). To further study the biological functions of these cells, we compared the capability of MTSC4 with TDCs in the induction of thymocyte apoptosis, using thymic reaggregation culture system. Apoptosis of thymocytes induced by MTSC4 and TDCs was measured by Annexin V and PI staining and analyzed by flow cytometry. We found that MTSC4 selectively augmented the apoptosis of CD4^ 8^ (DP) thymocytes. This effect was Fas/FasL independent and could not be blocked by antibodies to MHC class I and class II molecules. In addition, MTSC4 enhanced the apoptosis of DP thymocytes from different strains of mice, which implies that MTSC4-induced thymocyte apoptosis is not mediated by the TCR recognition of self peptide/MHC molecules. In contrast to MTSC4, thymocyte apoptosis induced by TDCs was MHC-restricted. Thus, MHC-independent fashion of stromal-DP thymocyte interaction may be one of the ways to induce thymocyte apoptosis in thymus. Our study has also shown that the interaction of MTSC4 stromal cells and thymocytes is required for the induction of thymocyte apoptosis. 相似文献
60.
安徽农田表层土壤中有机氯农药的分布及其组成 总被引:4,自引:0,他引:4
以安徽省寿县等19个地区的农田表层土壤(0~20 cm)为对象,采用超声波提取,气相色谱法/电子捕获检测器(GC/ECD)检测,分析了α-六六六、β-六六六、γ-六六六、δ-六六六、op′-DDE、pp′-DDD、α-硫丹和百菌清等8种有机氯农药(OCPs)在农田表层土壤中的分布及组成特征.结果表明: 19个取样点中8种有机氯农药残留的总含量范围为ND~23.75 μg·kg-1,其中PP′-DDD、γ-HCH为主要污染物,平均质量浓度分别为13.83和13.49 μg·kg-1.与1990年的调查结果相比,六六六平均值含量呈明显下降趋势;与国内外土壤相比,安徽省农田表层土壤中的六六六(HCHs)处于中等偏高的水平.安徽省农田表层土壤中OCPs、HCHs和pp′-DDD平均浓度分别为48.58、28.64和13.83 μg·kg-1,均未超过《土壤环境质量标准》(GB 15618-1995)的一级土壤质量标准(<50 μg·kg-1),污染较轻. 相似文献