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71.
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex. 总被引:4,自引:2,他引:2
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K Chun N MacKay R Petrova-Benedict A Federico A Fois D E Cole E Robertson B H Robinson 《American journal of human genetics》1995,56(3):558-569
Human pyruvate dehydrogenase (PDH)-complex deficiency is an inborn error of metabolism that is extremely heterogeneous in its presentation and clinical course. In a study of 14 patients (7 females and 7 males), we have found a mutation in the coding region of the E1 alpha gene in all 14 patients. Two female patients had the same 7-bp deletion at nt 927; another female patient had a 3-bp deletion at nt 931. Another female patient was found to have a deletion of exon 6 in her cDNA. Two other female patients were found to have insertions, one of 13 bp at nt 981 and one of 46 bp at nucleotide 1078. Two male patients were found to have a 4-bp insertion at nucleotide 1163. The remaining six patients all had missense mutations. A male patient and a female patient both had an A1133G mutation. The other missense mutations were C214T, C615A, and C787G (two patients). Five of these mutations are novel mutations, five have been previously reported in other patients, and two were published observations in other patients in an E1 alpha-mutation summary. In the four cases where parent DNA was available, only one mother was found to be a carrier of the same mutation as her child. 相似文献
72.
Xue Bin Zheng Misao Tsubokura Yongkun Wang Chun Xie Tetsuji Nagano Kazuhiko Someya Tomoko Kiyohara Kiyomi Suzuki Takeshi Sanekata 《Microbiology and immunology》1995,39(10):821-824
Thirty strains of Yersinia pseudotuberculosis were isolated from rabbits (17 strains), wild rats (9 strains) and house rats (4 strains) in China between 1990 and 1993. The biochemical properties of these isolates were identical with those of Y. pseudotuberculosis and no special characteristics were found in these strains. Serologically, serogroups 4b and 5b were identical to isolates found in Japan, and a new serogroup 1c and unclassified strains have also been detected. The existence of virulence-associated properties were different among strains. The pYV plasmid was detected from 6 strains of 30 isolates. This report documents the presence of Y. pseudotuberculosis in China, providing important epidemiological information. 相似文献
73.
电刺激兔肾脏传入神经对血压,心率及加压素释放的影响 总被引:1,自引:0,他引:1
本工作以兔为实验对象,观察电刺激肾脏传入神经(ARN)对血压、心率、颈交感神经放电、以及加压素(AVP)合成和释放的影响,并对ARN进入中枢的通路作了观察。结果显示,电刺激ARN可以引起血压下降、心率减慢、颈交感神经放电抑制等反应,ARN的兴奋还可使下丘脑的视上核、室旁核中的AVP含量增加,垂体中AVP含量下降,血浆AVP水平升高。硝普钠的降压实验和静脉注射AVP受体阻断剂AVPa的实验均证实了A 相似文献
74.
本文对广东滩涂经济鱼类寄生复殖吸虫中的单孔科HaploporidaeNicoll,1914,单胜科HaplosplanchnidaePoche,1926和八睾科OctotestidaeYamaguti,1971吸虫进行研究,其中长尾亚科Elonainurinae和鲻长尾吸虫Elonginurusmuugilus分别作为单孔科的新亚科和新属新种;雄囊新单脏吸虫Neohaplosplanchnuscirrusaci作为单脏科的新属新种;天竺鲷八睾吸虫Octotestisapogoni作为八睾科、八睾吸虫属Octotestis(Wang,1963)Yamaguti,1951的新种。 相似文献
75.
76.
Dissociated sympathetic neurons from the neonatal rat, grown in cell culture in the virtual absence of other cell types, can develop many of the properties expected of differentiated adrenergic neurons including the ability to synthesize and accumulate catecholamines (CA)2. However, in the presence of high concentrations of appropriately conditioned medium (CM), the cultures develop the ability to synthesize and accumulate acetylcholine (ACh); correspondingly, their ability to synthesize CA decreases. In this paper several developmental aspects of the CM effect are described. The time course of development of cultures grown with or without CM was followed using synthesis and accumulation of [3H]CA from [3H]tyrosine and production of [3H]ACh from [3H]choline as assays for adrenergic and cholinergic differentiation. The ability to produce CA or ACh developed along parallel time courses in the two sets of cultures, rising primarily during the second week in vitro and reaching a plateau during the fourth week. When CM was used as a cholinergic developmental signal, the sympathetic neurons showed a decreasing response to addition of CM as they matured adrenergically; addition of CM during the third or fourth 10 days in vitro was not as effective in inducing ACh production as addition during the first or second 10 days. Similarly, removal of CM at various times from cultures previously grown in CM showed that the cholinergic induction caused by CM was not easily reversible in older cultures. Thus, as with the adrenergic decision, the cholinergic decision becomes less reversible as the phenotype becomes fully expressed. 相似文献
77.
性信息素对红铃虫雄蛾近距离性行为的抑制效应 总被引:1,自引:0,他引:1
鳞翅目昆虫雄蛾在交配之前的性行为可以分为远距离对雌蛾的定向和包括着陆、搜索、交配等直接导致雌、雄蛾交配成功的近距离行为。这两类不同的行为可由复合性信息素中的不同化学成分引起(Roelofs et al.,1977)或者由同种物质不同浓度所诱发,即雄蛾接受较低浓度刺激时出现远距离定向飞行;而高浓度诱发雄蛾近距离的交配性行为反应(Bartell et al.,1969)。从棉花红铃虫[Pectinophora gossypiella(Saund.)]雌蛾体内已经鉴定得到两种化学成份,顺-7,顺-11-十六碳二烯醇醋酸酯和顺-7,反-11-十六碳二烯醇醋酸酯。这两种成份的1:1混合物称为红铃虫性诱素(Gossyplure)(Hummel et al.,1973),它具有在田间引诱红铃虫雄蛾和诱发雄蛾近距离行为反应的作用。 在田间释放性信息化合物来扰乱雌、雄蛾之间的性信息联系,从而抑制其交配和繁殖是一种有希望的害虫防治方法。用红铃虫性诱素扰乱红铃虫交配的田间试验已取得一定成效(Gaston et al.,1977)。但是我们在田间试验中发现,性诱素抑制红铃虫雄蛾远距离定向后,田间还有相当比例的雌蛾发生了交配,这个现象表明,性诱素还未能完全抑制红铃虫雄蛾的近距离行为。为此我们进行了本项试验,用以阐明环境中红铃虫性诱素的存在对雄蛾近距离性行为的影响。 相似文献
78.
目的: 未折叠蛋白质反应UPR是酵母最重要蛋白质质量控制机制之一,研究UPR响应规律有助于优化异源蛋白分泌途径合成和应对酸醇等胁迫因子的细胞自我保护。方法: 选择实验室菌株W303-1A和工业菌株An-a,以UPRE启动子控制下的Lac Z为报告基因,利用CRISPR/Cas9技术构建得到指示菌株W303-1A (leu 2::UPRE-lac Z)和An-a (leu 2::UPRE- lac Z),分别简称WZ和AZ。结果: 生长曲线测定显示WZ和AZ与亲本菌株的生长接近;添加下述试剂孵育4h后测定β-半乳糖苷酶酶活:1μg/ml衣霉素、8%(v/v)乙醇、0.3%(v/v)乙酸、5%(v/v)乙醇+0.1%(v/v)乙酸;菌株AZ的比酶活分别是对照值的8.2、26.4、1.1和7.9倍,而菌株WZ则分别为12.6、2.4、1.0和1.0倍;进一步以YEplac195为载体表达β-葡萄糖苷酶,AZ和WZ转化子在2%纤维二糖中生长24h的β-葡萄糖苷酶酶活值分别为0.35和6.12U/ml,相应的LacZ则分别为对照值的3.1和5.4倍。结论: 两个菌株显示了在抑制物和异源蛋白表达UPR响应和调控能力上的显著差异,为其改造利用提供了方向;研究也为分析抑制物耐受性和异源蛋白表达关键制约因素、优化酵母ER和UPR信号通路的调控奠定了初步方法基础。 相似文献
79.
为了验证雌激素作用存在于完整的和去卵巢兔胚泡着床过程中,本文用~3H—雌二醇交换法测定了早期妊娠 D_3、D_5、D_7子宫组织的雌二醇受体浓度,并与去卵巢后仅补充孕酮的 D_7子宫作比较。结果显示:在 D_3、D_5、D_7的子宫细胞浆和细胞核中都存在雌二醇受体。妊娠7天去卵巢兔的子宫细胞核中雌二醇受体量与妊娠7天卵巢完整的兔作比较,二者无明显差异。这说明去卵巢后子宫细胞核中雌激素受体浓度并未受影响,因此雌激素作用依然存在。关于胚泡是否有雌激素受体的问题,本工作在胚龄5、6、7天胚泡中未测得雌二醇受体。据此,胚泡着床时,雌激素的作用可能主要通过母体子宫组织而发挥其生理效应。 相似文献
80.
水稻食叶类害虫等量损害系统与复合防治指标 总被引:5,自引:1,他引:4
稻纵卷叶螟Cnaphalocrocis.medinalis Guenèe中华稻蝗Oxya chinensis(Thunberg)稻苞虫Parnara guttatus (Bremer et Grey)是江苏地区水稻的主要食叶类害虫,取食水稻叶片,导致光合叶面积减少.剪叶模拟试验表明,水稻不同生育阶段叶面积损失率与产量损失率呈线性相关.其回归方程分蘖期、孕穗期、腊熟期分别为 D(It)=72.50759It1.15906、D(It)=141.61737It1.08002、D(It)=25.12434It1.00569.在叶面积损失率相同的情况下,产量损失率孕穗期>分蘖期>腊熟期.试验通过三种害虫的各龄取食量,不同生育阶段水稻叶面积及为害与损失率之间的关系,建立了不同生育阶段的经济允许损害水平(EILt).并根据各种害虫的相对潜在取食量,计算了校正等量损害系数,为制订复合防治指标提供了依据.实践证明:以等量损害为单位的复合防治指标有较大的实用价值,生态效益、经济效益、社会效益明显. 相似文献