A novel mutation in the SCN5A gene is associated with Brugada syndrome

Brugada syndrome (BS) is an inherited cardiac disorder associated with a high risk of sudden cardiac death and is caused by mutations in the SCN5A gene encoding the cardiac sodium channel alpha-subunit (Na(v)1.5). The aim of this study was to identify the genetic cause of familial BS and characterize the electrophysiological properties of a novel SCN5A mutation (W1191X). Four families and one patient with BS were screened for SCN5A mutations by PCR and direct sequencing. Wild-type (WT) and mutant Na(v)1.5 channels were expressed in tsA201 cells, and the sodium currents (I(Na)) were analyzed using the whole-cell patch-clamp technique. A novel mutation, W1191X, was identified in a family with BS. Expression of the WT or the mutant channel (Na(v)1.5/W1191X) co-transfected with the beta(1)-subunit in tsA201 cells resulted in a loss of function of Na(v)1.5 channels. While voltage-clamp recordings of the WT channel showed a distinct acceleration of Na(v)1.5 activation and fast inactivation kinetics, the Na(v)1.5/W1191X mutant failed to generate any currents. Co-expression of the WT channel and the mutant channel resulted in a 50% reduction in I(Na). No effect on activation and inactivation were observed with this heterozygous expression. The W1191X mutation is associated with BS and resulted in the loss of function of the cardiac sodium channel.     

念珠菌阴道炎及其耐药性分析

目的探索女性念珠菌阴道炎发病情况及耐药性。方法白带常规采用直接盐水涂片法;阴道分泌物培养按细菌培养常规法进行培养。结果白带常规检查中念珠菌阳性率为12．9％,滴虫阳性率为2．0％,线索细胞阳性率为10．3％,清洁度（Ⅲ～Ⅳ）为13．0％。阴道分泌物培养情况如下：念珠菌阳性率为26％,细菌感染阳性率为45％．今珠菌培养阳性的标本中：白色念珠菌占90％,光滑念珠菌占7．8％,热带念珠菌占2．2％。念珠菌药敏结果分析：制霉素敏感度大于80％,是治疗念珠菌阴道炎最理想的药物。结论念珠菌阴道炎处于逐年上升的趋势：医生应根据药敏结果合理选择抗真菌药物,以免抗生素的滥用。     

骨转换生化指标的研究进展及选择依据

骨转化生化标志物的检测以其简便、快捷、无创等优点,在流行病学研究、长期跟踪监测、骨折风险评估等芳面独具优势.与骨影像学和骨形态计量学观察相比,其反映的是骨细胞活性的实时信息,因此是评价骨转换状况、观察药物早期疗效的重要手段.     

Complementary selectivity to (S)-1-phenyl-1,2-ethanediol-forming Candida parapsilosis by expressing its carbonyl reductase in Escherichia coli for (R)-specific reduction of 2-hydroxyacetophenone

An (R)-specific carbonyl reductase from Candida parapsilosis CCTCCM203011 (CprCR) was shown to catalyze the asymmetric reduction of 2-hydroxyacetophenone to (R)-1-phenyl-1,2-ethanediol (PED), which is a critical chiral building block in organic synthesis. The gene (rcr) encoding CprCR was cloned based on the amino acid sequences of tryptic fragments of the enzyme. Sequence analysis revealed that rcr is comprised of 1008 nucleotides encoding a 35 977 Da polypeptide, and shares similarity to proteins of the medium-chain dehydrogenase/reductase (MDR) superfamily. Recombinant rcr expressed in Escherichia coli showed a specific 2-hydroxyacetophenone-reducing activity. Using rcr expressing cells, (R)-PED was obtained by asymmetric reduction, which is complementary in enantiomeric configuration to (S)-PED obtained by using whole cells of C. parapsilosis. After optimization of reaction conditions, (R)-PED was produced at 95.5% enantiomeric excess with a yield of 92.6% when isopropanol was used for cofactor regeneration.     

利用mRNA差异显示技术分离甜菜M14品系特异表达基因的cDNA片段

二倍体栽培甜菜与白花甜菜杂交、进一步回交而获得的单体附加系M₁₄,其染色体组成中除了含有18条栽培甜菜染色体外,还附加有一条野生白花甜菜第9号染色体,该附加染色体通过母本的传递率为96.5%;单体附加系传递率如此高的原因是因为M₁₄中有无融合生殖基因的存在。本实验采用mRNA差异展示技术对甜菜无融合生殖品系M₁₄和正常有性生殖的二倍体栽培甜菜A_2Y花蕾减数分裂时期的基因表达进行了差异分析。采用GT₁₅A,GT₁₅G,GT₁₅C 3种锚定引物,共筛选了20个随机引物,通过RT-PCR检测,获得了6个阳性差异表达的cDNA片段,应用NCBI的BLASTx软件对测序结果进行同源序列、相似序列检索,为进一步克隆无融合生殖基因提供侯选cDNA片段。     

Geographic variation in growth response of Douglas‐fir to interannual climate variability and projected climate change

We used 179 tree ring chronologies of Douglas‐fir [Pseudotsuga menziesii (Mirb.) Franco] from the International Tree‐Ring Data Bank to study radial growth response to historical climate variability. For the coastal variety of Douglas‐fir, we found positive correlations of ring width with summer precipitation and temperature of the preceding winter, indicating that growth of coastal populations was limited by summer dryness and that photosynthesis in winter contributed to growth. For the interior variety, low precipitation and high growing season temperatures limited growth. Based on these relationships, we chose a simple heat moisture index (growing season temperature divided by precipitation of the preceding winter and current growing season) to predict growth response for the interior variety. For 105 tree ring chronologies or 81% of the interior samples, we found significant linear correlations with this heat moisture index, and moving correlation functions showed that the response was stable over time (1901–1980). We proceeded to use those relationships to predict regional growth response under 18 climate change scenarios for the 2020s, 2050s, and 2080s with unexpected results: for comparable changes in heat moisture index, the most southern and outlying populations of Douglas‐fir in Mexico showed the least reduction in productivity. Moderate growth reductions were found in the southern United States, and strongly negative response in the central Rocky Mountains. Growth reductions were further more pronounced for high than for low elevation populations. Based on regional differences in the slope of the growth–climate relationship, we propose that southern populations are better adapted to drought conditions and could therefore contain valuable genotypes for reforestation under climate change. The results support the view that climate change may impact species not just at the trailing edges but throughout their range due to genetic adaptation of populations to local environments.     

噬菌体抗体库技术与高通量筛选抗体

噬菌体抗体库技术是组合技术与基因工程抗体技术相结合的产物 ,为快速筛选特异性抗体提供了简便而高效的操作系统 ,随着蛋白质组学的飞速发展 ,对抗体的大规模制备的需求日益增加 ,迫切需要发展高质量的抗体库和与之相整合的高通量筛选技术。近年来 ,以上技术的发展和自动化设备的引入为大规模抗体制备的实现提供了条件 ,对这一领域的研究进展做一概述。     

水源圈研究进展

在干旱、半干旱区草场上,由于饮水的需求导致牲畜经常性地集中在水源点周围,从而使草地生态系统以水源点为中心呈梯度退化,形成水源圈.按照放牧影响程度的大小,以水源点为中心由内向外可将水源圈划分为“牺牲带”、过渡带和自然带3部分,水源圈内的植被、土壤等对放牧的响应也呈梯度变化.由于水源圈内存在着“天然的放牧梯度”,使其成为研究放牧对植被、土壤的影响和自然资源保护及其可持续利用的绝佳场所.本文对水源圈的概念、研究的发展历程和研究方法等进行了综述,并对国内研究现状进行了评述,以促进干旱、半干旱区草场的科学管理和可持续利用.     

变化世界中基于生态学的恢复——2007年国际恢复生态学会和美国生态学会年会简介

由国际恢复生态学会和美国生态学会联合主办的2007年国际恢复生态学会(第18届)和美国生态学会年会(第92届)于2007年8月5—10日在美国的加州圣荷塞市(San Jo-se)举行,来自世界各国和地区的近4000名代表参加了会议.大会的主题是“变化世界中基于生态学的恢复(Ecology-based restoration in a changing world)”.本次会议论文集收录摘要3000多篇,分为专题研讨会24个、有组织的口头报告专题51个、投稿的口头报告163个、培训班24个、特别研讨专题30个、墙报专题72个以及野外考察21次,另有大量会议组织者及非组织者举办的相关活动(如学报编辑对…     

CELⅠ酶的粗提取及其活性检测

CEL I酶是第一个从真核生物中提取的用于高效特异切割DNA双链碱基错配和DNA扭曲的内切酶, 因而也是TILLING技术中用到的一种关键酶。文章对CELI酶的粗提取及其活性检测进行了研究。错配切割实验表明, CELI酶在包含有G→A点突变的杂合双链中, 能有效地在错配位点进行切割, 并可以通过ABI377测序仪获得直观的检测结果, 从而可以用于TILLING分析。