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DTDST基因突变与先天性马蹄内翻足的相关性研究 被引量:3
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作者 何炳斌 吴欣乐 +2 位作者 杜香平 熊志刚 曾小辉 《临床小儿外科杂志》 CAS 2009年第2期32-34,共3页
目的研究骨畸形发育不良硫酸盐转移吲子(DTDST)基因突变与先天性马蹄内翻足的相关性。方法应用RT—PCR和PCR—SSCP的方法对40例先天性马蹄内翻足患儿和10例正常儿童的DTDST基因进行检测,采用χ^2检验对实验数据进行分析。结果27例先... 目的研究骨畸形发育不良硫酸盐转移吲子(DTDST)基因突变与先天性马蹄内翻足的相关性。方法应用RT—PCR和PCR—SSCP的方法对40例先天性马蹄内翻足患儿和10例正常儿童的DTDST基因进行检测,采用χ^2检验对实验数据进行分析。结果27例先天性马蹄内翻足患儿和2例正常儿童的DTDST基因发生突变,经四格表检验,χ^2=5.59,P〈0.05,差异有统计学意义。结论先天性马蹄内翻足的发生可能与DTDST基因突变有关。 展开更多
关键词 基因/生理学 突变/遗传学 畸形足/病因学
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小鼠破骨细胞钠钙交换体亚型1的表达与功能 被引量:2
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作者 李京平 梁洁 付云 《解剖学研究》 CAS 2010年第5期368-373,共6页
目的钠钙交换体(Sodium-Calcium Exchange,NCX)是钙离子排出细胞的重要途径。本研究探讨小鼠破骨细胞表达NCX1的不同剪切异构体及其钠钙交换功能。方法培养小鼠破骨细胞,纯化后提取总RNA样本,通过PCR克隆和DNA测序鉴定破骨细胞表达NCX1... 目的钠钙交换体(Sodium-Calcium Exchange,NCX)是钙离子排出细胞的重要途径。本研究探讨小鼠破骨细胞表达NCX1的不同剪切异构体及其钠钙交换功能。方法培养小鼠破骨细胞,纯化后提取总RNA样本,通过PCR克隆和DNA测序鉴定破骨细胞表达NCX1的具体剪切异构体种类。再将NCX1读码框架亚克隆至过表达质粒pIRESpuro,转染HEK293细胞后观察细胞内游离钙离子浓度的变化。结果在小鼠破骨细胞内克隆得到NCX1BD和NCX1ABD两个剪切异构体,其中NCX1ABD为新发现剪切异构体。将NCX1BD和NCX1ABD亚克隆至pIRESpuro后转染HEK293细胞,成功获得过表达细胞株。细胞加载钙离子荧光染色剂Furo-2/AM,抑制细胞膜纳钾泵并降低细胞外钠浓度后可以观察到NCX1反向模式导致的细胞内游离钙离子浓度的上升。但NCX1ABD导致的细胞内钙上升仅为NCX1BD的40%左右(t-检验,P<0.001)。结论小鼠破骨细胞表达两种NCX1剪切异构体,其中NCX1ABD为新发现剪切异构体,可能具有较弱的钠钙交换功能。 展开更多
关键词 钠钙交换体/遗传学 基因表达/生理学 破骨细胞/生理学 钙/代谢
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Study of Resistin gene expression in peripheral blood mononuclear cell and its gene polymorphism in a small range population 被引量:1
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作者 YANG Yun-mei XU Zhe-rong +1 位作者 WU Ling-jiao HUANG Wei-dong 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2007年第2期132-135,共4页
Objective: To observe the expression of Resistin mRNA in peripheral blood mononuclear cells and its gene poly-morphism in coding region in a small range population in Zhejiang Province of China. Methods: Eighty-three ... Objective: To observe the expression of Resistin mRNA in peripheral blood mononuclear cells and its gene poly-morphism in coding region in a small range population in Zhejiang Province of China. Methods: Eighty-three cases of type 2 diabetes mellitus and 53 healthy people were included. The expression of Resistin mRNA in peripheral blood mononuclear cells was detected by RT-PCR and semi-quantitative PCR assay. The sequencing work was done in Resistin cDNA and gene poly-morphism was analyzed. Results: At the same condition, in 83 diabetes patients, Resistin mRNA was detected in 23 cases (11 males and 12 females). There was no Resistin mRNA expression in 53 healthy people. The ratio of PCR products between Resistin and glyceraldehyde-3-phosphate dehydrogenase (GAPDH) was from 0.564 to 1.238, averaging 0.804±0.436. The sequence of Resistin cDNA is almost identical with each other and with that in GenBank with no single nucleotide polymorphism being found. Conclusion: Resistin mRNA is expressed in human peripheral blood mononuclear cells in some type 2 diabetes mellitus, but its expression is at a low level. Among the experiment population we did not find polymorphism phenomenon in Resistin coding region. The different individual’s Resistin coding region is highly coincident. 展开更多
关键词 Resistin mRNA Peripheral blood mononuclear cells Coding region Gene polymorphism
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Leptin: a multifunctional hormone 被引量:35
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作者 HUANG Lu, CAI LI(Tel: (214)-648-3340 Fax: (214)-648-9191 E-mail: li03@utsw.swmed.edu)(1 Touchstone Center for Diabetes Research1 Departments of Physiology and,2 Departments of Internal MedicineThe University of Texas Southwestern Medical Center5323 H. 《Cell Research》 SCIE CAS CSCD 2000年第2期81-92,共12页
Leptin is the protein product encoded by the obese (ob)gene. It is a circulating hormone produced primarily by the adipose tissue. ob/ob mice with mutations of the gene encoding leptin become morbidly obese, infertile... Leptin is the protein product encoded by the obese (ob)gene. It is a circulating hormone produced primarily by the adipose tissue. ob/ob mice with mutations of the gene encoding leptin become morbidly obese, infertile, hyperphagic, hypothermic,and diabetic. Since the cloning of leptin in 1994, our knowledge in body weight regulation and the role played by leptin has increased substantially. We now know that leptin signals through its receptor, OB-R, which is a member of the cytokine receptor superfamily. Leptin serves as an adiposity signal to inform the brain the adipose tissue mass in a negative feedback loop regulating food intake and energy expenditure. Leptin also plays important roles in angiogenesis, immune function, fertility and bone formation. Humans with mutations in the gene encoding leptin are also morbidly obese and respond to leptin treatment,demonstrating that enhancing or inhibiting leptin’s activities in vivo may have potential therapeutic benefits. 展开更多
关键词 LEPTIN OB-R HYPOTHALAMUS adipose tissue obesity diabetes cytokine receptor
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Isolation and physiological characteristics of a premature senescence mutant in rice(Oryza sativa L.) 被引量:5
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作者 李付振 金松恒 +4 位作者 胡国成 付亚萍 斯华敏 蒋德安 孙宗修 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE EI CAS CSCD 2005年第8期803-811,共9页
A rice pse(t) (premature senescence, tentatively) mutant line, was isolated from 4500 independent T-DNA inserted transgenic lines. The symptoms of premature senescence appeared more severely than those of the cont... A rice pse(t) (premature senescence, tentatively) mutant line, was isolated from 4500 independent T-DNA inserted transgenic lines. The symptoms of premature senescence appeared more severely than those of the control plants (Zhonghua 11, japonica) at the last development stage. To characterize the mutant and provide basic information on the candidate genes by mapping to a physical region of 220-kb, experiments were carried out in two phytotrons under controlled temperature of 24 ℃ and 28 ℃, respectively. The content of chlorophyll, soluble protein and MDA (malondialdehyde), net photosynthesis, the antioxidant enzyme activities of SOD (superoxide dismuase) (EC 1.15.1.1 ) and POD (peroxidase) (EC 1.11.1.7) and the peptidase activities of leaves were measured from top to bottom according to the leaf positions at the flowering stage. Compared with the control plant, the mutant showed the following characteristics: (1) Higher net photosynthesis rate (Pn) appeared in the 1st and 2nd leaves, contents of chlorophyll and soluble protein were also higher in the 1st leaf; (2) The activities of SOD, POD and peptidase were higher according to the leaf position from top to bottom; (3) The symptom of premature senescence was accelerated in the mutant at 28 ℃ treatment. The MDA content and the SOD and POD activities between the 24 ℃ and 28 ℃ treatment mutants were not significantly different. Content of chlorophyll and soluble protein of leaves mutant decreased rapidly at 28 ℃ treatment. The results show thatpse(t) is sensitive to high temperature. The probable function of PSE(T) is discussed. 展开更多
关键词 Antioxidative enzymes Net photosynthesis rate PEPTIDASE PHYTOTRON Premature senescence mutant Rice (Oryzasativa L.)
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Genotypic Differences in Grain Yield and Physiological Nitrogen Use Efficiency Among Rice Cultivars 被引量:30
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作者 ZHANG Ya-Li, FAN Jian-Bo, WANG Dong-Sheng and SHEN Qi-Rong2College of Resources and Environmental Sciences, Nanjing Agricultural University, Nanjing 210095 (China) 《Pedosphere》 SCIE CAS CSCD 2009年第6期681-691,共11页
Efficient use of N in agricultural practice can increase yield, decrease production costs and reduce the risk of environmental pollution. Effects of N fertilizer application rates on grain yield and physiological N us... Efficient use of N in agricultural practice can increase yield, decrease production costs and reduce the risk of environmental pollution. Effects of N fertilizer application rates on grain yield and physiological N use efficiency (PE) in relation to the accumulation and redistribution of biomass and N in rice (Oryza sativa L.) cultivars were studied at two experimental farms of Nanjing Agricultural University, Nanjing, China in 2004. Three high N use efficiency (NUE) rice cultivars (Wuyunjing 7, Nanguang and 4007) and one low NUE rice cultivar (Elio) with similar growth patterns were studied under seven N rates (0, 60, 120, 180, 240, 300 and 360 kg ha -1 ). Grain yield increased with the N application rate and attained plateau at 180 kg N ha -1 for rice cultivars at each site. Increasing N rate decreased PE for biomass and grain yield. Grain yield and PE of Elio were about 20% and 18% lower than those of high NUE cultivars. Differences in biomass, N accumulation and N redistribution were observed at the post-heading stage among rice cultivars with differing NUEs. The less reproductive tillers of Elio resulted in less demand for C and N during grain filling, thus leading to lower PE of Elio compared with the high NUE rice cultivars. 展开更多
关键词 ACCUMULATION BIOMASS N application rate REDISTRIBUTION
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临床特征不典型的Leber遗传性视神经病变线粒体DNA基因检测结果分析 被引量:1
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作者 孙艳红 韦企平 +2 位作者 周剑 宫晓红 曹京源 《中华眼底病杂志》 CAS CSCD 北大核心 2010年第4期380-382,共3页
Leber遗传性视神经病变(LHON)是由线粒体DNA(mtDNA)突变引起的母系遗传性视神经疾病,mtDNA基因检测是LHON确诊的必要手段,目前已有35个与LHON相关的mtDNA突变位点被发现。对于典型LHON,通过临床表现结合基因检测即可确诊;但对... Leber遗传性视神经病变(LHON)是由线粒体DNA(mtDNA)突变引起的母系遗传性视神经疾病,mtDNA基因检测是LHON确诊的必要手段,目前已有35个与LHON相关的mtDNA突变位点被发现。对于典型LHON,通过临床表现结合基因检测即可确诊;但对临床特征不典型的LHON,其诊断以及是否需要进行基因检测则使临床医生困惑。为此,我们对2000年6月至2009年3月在我院行基因检测的患者进行了回顾分析,总结临床特征不典型的LHON中基因检测的阳性率。现将结果报告如下。 展开更多
关键词 视神经萎缩 遗传性 Leber/诊断 视神经萎缩 遗传性 Leber/病因学 基因/生理学
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四联重复肽包含基因4基因在正常人眼及其他组织中的表达
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作者 苏冠方 吴宏 +1 位作者 程岩 刘早霞 《中华眼底病杂志》 CAS CSCD 北大核心 2007年第5期355-356,共2页
1999年,苏冠方等克隆出人类四联重复肽包含基因4(TTC4)基因,并于2000年发现该基因在基因组中的结构,共有10个外显子,其mRNA长度为2.1kh。该基因存在于人类染色体1p31。由于人类1号染色体长臂经常于多种恶性肿瘤发生时呈现缺失性... 1999年,苏冠方等克隆出人类四联重复肽包含基因4(TTC4)基因,并于2000年发现该基因在基因组中的结构,共有10个外显子,其mRNA长度为2.1kh。该基因存在于人类染色体1p31。由于人类1号染色体长臂经常于多种恶性肿瘤发生时呈现缺失性改变,极有可能有一个或几个肿瘤抑癌基因存在于此区域。因此,TTC4基因可能为一抑癌基因。 展开更多
关键词 肽类/分析 基因表达/生理学 原位杂交
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Avian genetic ecotoxicology: DNA of the canary in a coalmine 被引量:2
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作者 Andrea BONISOLI-ALQUATI 《Current Zoology》 SCIE CAS CSCD 2014年第2期285-298,共14页
Genotoxic chemicals, through damage and alteration of the genetic material of wild organisms, pose significant threats to the persistence of wild animal populations. Their damaging effects can ultimately impair the he... Genotoxic chemicals, through damage and alteration of the genetic material of wild organisms, pose significant threats to the persistence of wild animal populations. Their damaging effects can ultimately impair the health of the ecosystem and its provision of services to human society. Bird species are good candidates for the role of sentinels of the effects of genotoxins, thanks to (i) the diversity of their ecological niches, (ii) their ubiquity across environments, (iii) their conspicuousness, abundance and approachability, together with (iv) their well-known life histories and the availability of historical data series. Avian diversity increases the likelihood that adequate model species be available for monitoring genotoxicants and assessing their impact. This paper reviews the methods utilized by genetic ecotoxicological studies of wild birds, highlighting their benefits and shortcomings. It also summarizes the genetic ecotoxicological studies so far conducted. In spite of a paucity of studies, several classes of genotoxicants have already been investigated across a variety of species and environments, thus supporting the versatility of birds as monitors of genotoxic contamination. Future technical advancements and applications are suggested, with par- ticular reference to the analysis of mutational events, gene expression and methylation patterns. Finally, I argue that the development of avian genetic ecotoxicology will contribute to the understanding of natural variation in the underlying machinery for coping with DNA damage and oxidative stress, both of which are increasingly recognized as proximate factors in the evolution of life history adaptations [Current Zoology 60 (2): 285-298, 2014]. 展开更多
关键词 BIOMARKER DNA damage Ecogenotoxicology Ecological indicator Ecological Risk assessment Environmental monitoring
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New Trend of Management Science - Managerial Bioengineering System
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作者 Baoshan Li Yong Lian 《Journal of Systems Science and Information》 2006年第1期39-43,共5页
This article seeks to depict the management science's new trend - managerial bioengineering system which is making decisive influence to enterprise management, generalizes the characteristics and categories of manage... This article seeks to depict the management science's new trend - managerial bioengineering system which is making decisive influence to enterprise management, generalizes the characteristics and categories of managerial gene variation, and brings forward a managerial genome plan with 5-"All": participation of all members, enjoyment of all aspects, accumulation of all time, devotion of all strength and operation of all speed. 展开更多
关键词 managerial gene managerial gene variation managerial genome plan
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