The genetic and molecular basis of epilepsy

In the past decade, studies of large families in which epilepsy has been inherited in an autosomal dominant fashion have revealed several mutated genes, most of which encode ion channel subunits. Despite these exciting findings, only a few families with similar phenotypes have mutations in these known genes. More frustrating has been the genetic research into idiopathic epilepsies with complex inheritance. Although these forms are more common than those with Mendelian inheritance, their unknown mode of inheritance, phenotypic heterogeneity and the uncertainty of the genetic overlap among syndrome subtypes have hampered gene mapping. New techniques of molecular analysis could help the dissection of genes for epilepsies with complex inheritance. Hopefully, in the near future, successful genetic studies will make possible the discovery of new and more-targeted anti-epileptic drugs.     

未净化Z：ZCLA长爪沙鼠封闭群繁育及遗传稳定性分析

目的分析未净化Z：ZCLA长爪沙鼠封闭群繁育和生长指标,并利用直接测序法分析其遗传稳定性。方法随机选择40对Z：ZCLA长爪沙鼠,记录其繁殖胎次、产子数等指标,分析其仔鼠的生长发育情况。遗传稳定性分析选择Z：ZCLA长爪沙鼠非同胞、非亲代个体33只,提取肝脏基因组DNA,PCR扩增D-Loop序列,产物纯化后双向测序,测序结果与Z：ZCLA长爪沙鼠标准序列比对。结果 Z：ZCLA长爪沙鼠每胎产仔7只,胎间隔多在20～60 d间,雄性体重高于雌性。遗传稳定性分析检测发现33只Z：ZCLA长爪沙鼠序列与标准序列完全一致。结论 Z：ZCLA长爪沙鼠群体内未发现遗传多态性,说明该群体具有较好的遗传稳定性。     

大兴安岭南部山地苔藓植物区系多样性研究

于2009～2012年对大兴安岭南部山地6个自然保护区的苔藓植物进行了野外实地调查,对所采集的1 800余号标本进行室内分析鉴定,并计算分析其种类组成、区系地理成分、地区之间相似性系数和相异系数的欧氏距离比较,及其8种生境中苔藓植物多样性指数、丰富度指数、均匀度指数和优势度指数等,为保护区的管理和建设提供基础资料。结果表明:(1)大兴安岭南部山地6个自然保护区共有苔藓植物48科,134属,330种,其中苔类16科,21属,38种,1变种;藓类32科,113属,274种,14变种,2变型,1亚种。(2)首次发现中国新记录4种:长柄紫萼藓(Grimmia longirostris Hook.),毛尖连轴藓[Schistidium lancifolium(Kindb.)Blom.],平叶真藓(Bryumlaevifilum Syed.),凹叶毛灰藓[Homomallium adnatum(Hedw.)Broth.],首次发现本地区新记录12种。(3)以丛藓科为代表的旱生藓类在本区占有优势地位;区系地理成分以温带成分(60.79%)和东亚成分(16.19%)为主。(4)大兴安岭南部山地与兴安北部和燕山北部山地亲缘关系较近;生境条件的变化对苔藓植物多样性产生了一定的影响,湿润土生和石生生境为本区苔藓植物最丰富的生境,水生生境中苔藓植物分布最少。研究发现,大兴安岭南部山地苔藓植物区系是连接华北区、东北区、蒙新区和阴山地区的过渡性地带;与燕山北部和兴安北部相比,大兴安岭南部山地大面积苔藓植物地被层分布较少的主要原因是森林密度和湿度较低。因此,建立保护区对保护大兴安岭南部山地脆弱的森林、草原过渡生态系统,保护中国野生动植物类群及其他珍稀动植物的繁衍均具有十分重要的意义。     

四种独立通风笼具（IVC）的检测

目的比较4种独立通风笼具（individually ventilated cages,IVC）的环境参数。方法参考GB14925-2001的检测方法对分别来自4个厂家生产的4种不同的IVC进行环境检测。结果4种IVC在空气洁净度、落下菌、噪声和照度等4个指标检测数据较为一致;在梯度压差、换气次数、气流速度等3个指标存在较大的差别;而温湿度等指标取决于IVC所处的外部环境。结论目前缺乏国家标准对IVC环境指标进行限定,各厂家所生产的IVC存在差异,需要在此方面加强研究,以促进IVC的标准化,更好的服务于实验动物行业。     

Assessment of muscle hardness changes induced by a submaximal fatiguing isometric contraction

Transient elastography consists of measuring the transverse local shear elastic modulus defined as local muscle hardness (LMH). It has previously been shown that LMH is correlated to muscle activity level during non-fatiguing contractions. The aim of this study was to describe how LMH and muscle activity level change during a submaximal fatiguing constant-torque protocol. Changes in gastrocnemius medialis LMH and in surface electromyographic activities (sEMG) of plantar flexors induced by a submaximal isometric plantar flexion (40% of the maximal isometric torque) until exhaustion were quantified. During the contraction, sEMG of each muscle increased (P<0.001) whereas LMH remained constant (P>0.05). Active LMH assessed during the contraction did not parallel muscle activity level changes during this type of submaximal fatigue protocol. Interestingly, LMH at rest assessed in passive conditions was higher prior to the fatiguing effort (P<0.05), rather than that assessed immediately after. Muscle and tendon viscous behaviors could imply a creep phenomenon during a prolonged isometric contraction, and our results in LMH at rest could indicate that this phenomenon induces changes in muscle intrinsic mechanical properties. Further studies are needed to examine whether it could have an influence on muscle activity levels during the contraction.     

Using microwave irradiation in Marchi's method for demonstrating degenerated myelin

Conventional methods for histological preparation of degenerated myelin are time-consuming and difficult. The purpose of our study was to shorten the time required for the procedure and to obtain better quality results for light microscopic demonstration of degenerated myelin in the central and peripheral nervous systems by using microwave irradiation. Rat brain and sciatic nerve were used for the study. The middle cerebral artery was occluded and the sciatic nerve was cut to produce myelin degeneration. Marchi's method was used for staining degenerated myelin. Fixation for light microscopy that would take two days using the conventional procedure was completed in 16.5-18.5 min using microwave irradiation. While staining of degenerated myelin requires 10 days for the conventional Marchi method, we decreased it to 7 h for brain tissue and 1 h for sciatic nerve by using the microwave oven. Moreover, a better quality preparation was achieved in the groups stained under microwave irradiation than those prepared by the conventional method.