Cytogenetic study of mentally retarded children in Taipei

560 blood samples collected from mentally retarded children in Taipei were karyotypically analyzed for the incidence of fragile X and other chromosome abnormalities. The fragile site at Xq27.3 was observed in 18 patients (3.21%), 11 males and 7 females, out of the 560 blood cultures using M medium. Down syndrome (6.25%), 24 males and 11 females, was the other major category of abnormality. Other abnormalities, including inversion, translocation, deletion, duplication, ring as well as an extra marker chromosome were observed. The overall incidence of chromosomal abnormalities in these children was 14.82%.     

Studies on atrophic change of soleus muscle and its countermeasures in suspended rat

In the environment of microgravity, the disused atrophy of skeletal muscle, especially leg's muscle, would occur. The three purposes of this study were: 1. To observe the dynamic changes of disused atrophy of skeletal muscle under simulated weightlessness; 2. To approach the mechanism of disused atrophy of muscle; 3. To approach the countermeasures for reducing the degree of atrophy of muscle.     

迎接廿一世纪——记中国无锡第十一届国际植物园协会大会

第十一届国际植物园协会（IABG）大会于1993年9月7日在中国无锡开幕,经苏州、杭州,于9月12日在上海闭幕。9月6日部分与会代表参加了在南京举行的“中国南京国际植物园俱乐部”奠基仪式及江苏省重点实验室南京中山植物园“植物迁地保存实验室”扩建部分开放使用等一系列庆祝活动。参加大会的有来自23个国家和地区的199名代表。大会收到论文74篇,其中板报42篇,大会报告13篇。本次会议的主要议题为“植物园与国家发展”。经过大会报告和交流,明确了世界植物园在继续发挥其保护物种和保护环境的功能之外,必须进一步密切植物园与国家发展的关系。全面发展植物园的十项功能,不仅可以增加植物园对社会的贡献,也有利于提高植物园自身的活力和生存能力。大会选出了以主席岩（木规）邦男,副主席李蔼娃、贺善安、安德列也夫,秘书长艾斯特万为领导核心的新一届理事会。世界植物园两大组织国际植物园协会（IABG）和国际植物园保护组织（BGCI）在无锡签署的合作备忘录标志着国际植物园运动进入了一个新的历史时期。理事会的第一次会议于9月11日在由杭州开往上海的火车上举行。讨论了整顿组织、会员登记、出版IABG通讯及与BGCI合作开展活动等问题。会议确认1994年将在印尼召开IABG-AD第二次会议。第十二届IABG大会将于1     

TaTPP-7A positively feedback regulates grain filling and wheat grain yield through T6P-SnRK1 signalling pathway and sugar–ABA interaction

Grain size and filling are two key determinants of grain thousand-kernel weight (TKW) and crop yield, therefore they have undergone strong selection since cereal was domesticated. Genetic dissection of the two traits will improve yield potential in crops. A quantitative trait locus significantly associated with wheat grain TKW was detected on chromosome 7AS flanked by a simple sequence repeat marker of Wmc17 in Chinese wheat 262 mini-core collection by genome-wide association study. Combined with the bulked segregant RNA-sequencing (BSR-seq) analysis of an F₂ genetic segregation population with extremely different TKW traits, a candidate trehalose-6-phosphate phosphatase gene located at 135.0 Mb (CS V1.0), designated as TaTPP-7A, was identified. This gene was specifically expressed in developing grains and strongly influenced grain filling and size. Overexpression (OE) of TaTPP-7A in wheat enhanced grain TKW and wheat yield greatly. Detailed analysis revealed that OE of TaTPP-7A significantly increased the expression levels of starch synthesis- and senescence-related genes involved in abscisic acid (ABA) and ethylene pathways. Moreover, most of the sucrose metabolism and starch regulation-related genes were potentially regulated by SnRK1. In addition, TaTPP-7A is a crucial domestication- and breeding-targeted gene and it feedback regulates sucrose lysis, flux, and utilization in the grain endosperm mainly through the T6P-SnRK1 pathway and sugar–ABA interaction. Thus, we confirmed the T6P signalling pathway as the central regulatory system for sucrose allocation and source–sink interactions in wheat grains and propose that the trehalose pathway components have great potential to increase yields in cereal crops.     

Genetic variation in the Y chromosome and sex-biased DNA methylation in somatic cells in the mouse

Mammalian Genome - Several lines of evidence suggest that the presence of the Y chromosome influences DNA methylation of autosomal loci. To better understand the impact of the Y chromosome on...     

瞬时受体电位香草醛亚家族1(TRPV1)的生物学功能

瞬时受体电位香草醛亚家族1 (TRPV1)又称辣椒素受体(VR1),是一类可被辣椒素、热(>43℃)、酸(pH<6.0)所激活的配体门控性非选择性阳离子通道,对Ca²⁺有高度通透性。早期研究发现TRPV1主要分布在神经系统并介导瘙痒及痛觉反应,近些年研究表明其在非神经细胞如肥大细胞、膀胱上皮细胞、单核细胞、皮肤角化上皮细胞、胰岛细胞等中也广泛分布,在代谢性疾病、消化、呼吸和心血管系统疾病、皮肤病及肿瘤等疾病的发生发展中均发挥了重要作用。本文介绍了TRPV1的分布、结构特征及其功能研究的最新进展,并重点综述了TRPV1介导的瘙痒和疼痛信号通路及以TRPV1为靶点的中草药研究进展,以期为以TRPV1为潜在治疗靶点相关疾病的中西医防治提供理论指导。     

固相萃取与气相色谱⁃质谱法联用测定食用植物油和含脂肪食品中氯丙醇酯的方法验证研究

氯丙醇酯是国际上广泛关注的食品加工过程污染物,其水解产物氯丙醇对人体（特别是婴幼儿）危害风险较大。采用固相萃取与气相色谱-质谱（gas chromatography-mass spectrometry,GC-MS）联用技术,对食用植物油和含脂食品中的氯丙醇酯[3-氯-1,2-丙二醇脂肪酸酯（简称3-MCPD酯）和2-氯-1,3-丙二醇脂肪酸酯（简称2-MCPD酯）]进行检测。该方法准确度高（3-MCPD酯和2-MCPD酯的平均回收率分别为98.9%和96.5%)、灵敏度高(3-MCPD酯和2-MCPD酯的检出限分别为0.042 mg·kg^-1和0.058 mg·kg^-1)、重现性好(相对标准偏差均低于5%)。76批次监测样品中,3-MCPD酯和2-MCPD酯的含量分别为0.042~4.865 mg·kg^-1(平均值为0.773 mg·kg^-1)和0.058~2.592 mg·kg^-1(平均值为0.469 mg·kg^-1)。经机构间的协同验证和英国FAPAS样的能力验证,2种氯丙醇酯在0.200~3.000 mg·kg^-1范围内线性良好,为进一步研究奠定了基础,同时也为食品加工企业严格控制生产过程建立了一种可行的检测方法。     

中国金发草属与觿茅属的新分类等级

本文报导金发草属Pogonatherum Beauv.中1新种,即二芒金发草P.biaristatum S.L.Chen et G.Y.Sheng及觿茅属Dimeria R.Br.中2新种,即异花觿茅D.heterantha S.L.Chen et G.Y.Sheng及广西觿茅D.guangxiensis S.L.Chen et G.Y.Sheng.     

A short-chain carbonyl reductase mutant is an efficient catalyst in the production of (R)-1,3-butanediol

R-1,3-butanediol (R-1,3-BDO) is an important chiral intermediate of penem and carbapenem synthesis. Among the different synthesis methods to obtain pure enantiomer R-1,3-BDO, oxidation–reduction cascades catalysed by enzymes are promising strategies for its production. Dehydrogenases have been used for the reduction step, but the enantio-selectivity is not high enough for further organic synthesis efforts. Here, a short-chain carbonyl reductase (LnRCR) was evaluated for the reduction step and developed via protein engineering. After docking result analysis with the substrate 4-hydroxy-2-butanone (4H2B), residues were selected for virtual mutagenesis, their substrate-binding energies were compared, and four sites were selected for saturation mutagenesis. High-throughput screening helped identify a Ser154Lys mutant which increased the catalytic efficiency by 115% compared to the parent enzyme. Computer-aided simulations indicated that after single residue replacement, movements in two flexible areas (VTDPAF and SVGFANK) facilitated the volumetric compression of the 4H2B-binding pocket. The number of hydrogen bonds between the stabilized 4H2B-binding pocket of the mutant enzyme and substrate was higher (from four to six) than the wild-type enzyme, while the substrate-binding energy was decreased (from −17.0 kJ/mol to −29.1 kJ/mol). Consequently, the catalytic efficiency increased by approximately 115% and enantio-selectivity increased from 95% to 99%. Our findings indicate that compact and stable substrate-binding pockets are critical for enzyme catalysis. Lastly, the utilization of a microbe expressing the Ser154Lys mutant enzyme was proven to be a robust process to conduct the oxidation–reduction cascade at larger scales.     

Extracellular volume estimation from ratios of bromide to chloride in urine or saliva.

Use of either urine or saliva samples to estimate extracellular water volume was investigated in 10 men using nonradioactive bromide (Br) and in seven newborn piglets using radioactive Br (82Br) and chloride (36Cl). The relation to Br to Cl concentrations in urine enabled an estimation of Br dilution volume from human urine (267 +/- 42 ml/kg, mean +/- SD) that was not significantly different (P = 1.0) from the Br dilution volume calculated from plasma Br concentration (268 +/- 20 ml/kg). Although the Br dilution volume estimated from saliva was not different from that of plasma, the error in the estimates of Br dilution volume from saliva was too large (mean difference, -36 +/- 64 ml/kg) to make its use practical. The data from piglets showed good agreement between 82Br and 36Cl dilution volumes calculated from 4-hr plasma samples (356 +/- 14 ml/kg and 347 +2- 12 ml/kg; P greater than 0.1) and between 82Br dilution volumes calculated from urine 82Br:36Cl and plasma 82Br (360 +/- 31 ml/kg and 356 +/- 14 ml/kg; P greater than 0.1). Extracellular water volume can be estimated in both adult and young animals using the Br dilution volume calculated from urine samples. It requires (i) two urine collections: one before and one 4 to 8 hr after administration of Br; (ii) a measurement or estimate of plasma Cl concentration; and (iii) a correction factor that describes the relationship of the ratio of Br to Cl in urine to that ratio in plasma.