Energy state and myosin heavy chain isoforms in single fibres of normal and transforming rabbit muscles

 Energy-rich phosphates, [ATP]/[ADP_free] ratios, and the myosin heavy chain (MHC) complement were determined in single fibres from normal rabbit muscles, and in fibres isolated from tibialis anterior muscle undergoing fast-to-slow conversion by chronic low-frequency stimulation (CLFS). In normal muscles, energy-rich phosphate contents and [ATP]/[ADP_free] ratios could thus be assigned to different MHC-based fibre types. Phosphocreatine (PCr) contents and [ATP]/[ADP_free] ratios differed markedly between fast- and slow-twitch fibres, as well as within the fast fibre subtypes. Both magnitudes were approximately twofold higher in the fastest (type IIB) fibres as compared to the slowest (type I) fibres. According to PCr contents and [ATP]/[ADP_free] ratios pure and hybrid fibres were aligned in an order similar to that determined by their contractile properties and myofibrillar ATPase activities. CLFS for up to 30 days induced pronounced decreases in PCr and [ATP]/[ADP_free] which attained levels twofold lower than in normal slow-twitch fibres. In both normal and stimulated muscles, PCr and [ATP]/[ADP_free] ratios were correlated, indicating their equilibrium in the different fibre types. The relationship detected between MHC isoform expression and the [ATP]/[ADP_free] ratio suggests that the drastic and persistent depression of the cellular energy state may act as an important signal initiating fast-to-slow transformation processes in muscle fibres. Received: 26 June 1998 / Accepted: 31 July 1998     

成人型多囊肾病的基因诊断──PKD_1基因与其两侧四种基因探针的连锁分析

采用位于α３′ＨＶＲ同侧与成人型多囊肾病基因（ＰＫＤ１）更加接近的ｐＧＧＧ１及另一侧的２４－１和２１８ＥＰ６等探针对正常人基因组ＤＮＡ进行限制性片段长度多态性（ＲＥＬＰ）分析，分别检测各等位片段的频率，在此基础上，应用这三个基因探针与３′ＨＶＲ一起对２个成人型多囊肾病家系成员进行单体型分析，在这２个家系中，５个ＡＰＫＤ患者的ＲＦＬＰ单体型被证明与ＰＫＤ１基因相连锁，发现一个重组体，并检测出二个症状前个体。     

利用表面肌电信号评价肌肉疲劳的方法

表面肌电信号分析是评价局部肌肉疲劳有效的工具。过去由于受信号处理技术的限制,对肌肉疲劳的评价仅局限于等长、恒力收缩。由于适合于非平稳信号分析的频谱估计技术的发展,使得动态收缩条件下的肌肉疲劳评价得以实现,在工效学、康复医学和运动医学等方面开启了新的应用领域。本文论述了利用表面肌电信号评价肌肉疲劳,特别是在肌肉动态收缩期间评价肌肉疲劳的方法,为进一步探讨肌肉疲劳的发生机制提供理论依据。     

领导干部心理健康量表的初步编制

目的编制一套适用于领导干部群体的心理健康量表。方法通过文献研究、个案分析、问卷调查等,确立测验结构并编制成预测量表,通过对127位被试施测结果进行条目分析等形成正式量表,并进行因子分析等考察量表的信度和效度。结果编制成一个含3个量表:心理症状量表、自我概念量表、外界适应量表,共计93个项目的测评系统。项目与其所在量表的题总相关系数在0.445～0.855之间(P<0.001),各条目决断值(CR值)均具有显著性;对自我概念量表和外界适应量表探索性因素分析分别提取4个和3个公因子,累计解释总变异量分别为54.842%,48.365%,因子载荷在0.427～0.814和0.434～0.796之间;各量表的Cronbach'sα系数分别为0.775,0.860,0.952。结论初步研究显示量表的信效度均达到心理学测量标准,具有较好的信效度。     

7-9年级语文、数学单科标准化成就测验的编制

目的:编制7～9年级语文、数学单科标准化成就测验。方法:在多次试测基础上形成正式测本,采用分层和整群抽样方法,抽取语文样本1008人和数学样本1018人作项目分析,另有一定数量的被试用作信、效度估计及学科专家作内容效度评定。结果:语、数75%的项目难度为0.20～0.80,88%以上的项目鉴别力达到可接受水平,各分测验在各年级和总测验的D值均在0.50以上。语文测验总分的复本信度、分半信度在0.74～0.87之间,数学测验总分的各信度值在0.73～0.88之间。语数A、B题本总分与学科成绩相关为0.47～0.69,探索性因素分析语数各抽取2因素模型为佳,验证性因素分析结果表明两因素模型拟合较佳。结论:7-9年级语、数单科成就测验符合测量学的要求。     

颈内动脉岩内段形态位置与毗邻结构的相关分析

目的:探讨颈内动脉岩内段形态位置变化的规律及其与毗邻结构的关系.方法:对66侧正常成人颅底高分辨率CT连续图像进行分析,测量颞骨气房体积,建立定位颈内动脉岩内段及其毗邻结构的参照系,对其位置和形态进行测量,运用偏相关分析方法求出它们形态位置的变化规律及其影响因素.结果:在男性,颈内动脉垂直段更偏外侧,其水平段长度也大于女性.颞骨气化好,则颈内动脉垂直段更偏后移.颈内动脉垂直段与颈静脉球的位置变化表现为同步.垂直段的内外移位相应地使水平段与中线的夹角发生变化.颈内动脉水平段的方位与蜗轴方向相关,蜗轴偏离中线的角度越小,则颈内动脉水平段偏离中线的角度越大,反之亦然.结论:影响颈内动脉岩内段形态位置变化的因素是复杂和多重的,包括性别因素、颅底发育状态、颞骨气化程度以及毗邻结构发育状态均可能是影响因素.     

cDNA基因芯片数据分析软件的研发进展

数据分析与挖掘是基因芯片研究的关键和难点,而软件是数据分析方法实现的主要手段。我们从以下几个方面对cDNA基因芯片分析软件进行了综述。首先介绍了芯片数据的获取及分析的软件,然后概述了不同统计软件在芯片数据分析中的应用,并详细介绍几种常用的芯片数据分析软件,最后简述了基因网络分析及数据挖掘方面的软件。     

Using linked markers to infer the age of a mutation

Advances in sequencing and genotyping technologies over the last decade have enabled geneticists to easily characterize genetic variation at the nucleotide level. Hundreds of genes harboring mutations associated with genetic disease have now been identified by positional cloning. Using variation at closely linked genetic markers, it is possible to predict the times in the past at which particular mutations arose. Such studies suggest that many of the rare mutations underlying human genetic disorders are relatively young. Studies of variation at genetic markers linked to particular mutations can provide insights into human geographic history, and historical patterns of natural selection and disease, that are not available from other sources. We review two approaches for estimating allele age using variation at linked genetic markers. A phylogenetic approach aims to reconstruct the gene tree underlying a sample of chromosomes carrying a particular mutation, obtaining a “direct” estimate of allele age from the age of the root of this tree. A population genetic approach relies on models of demography, mutation, and/or recombination to estimate allele age without explicitly reconstructing the gene tree. Phylogenetic methods are best suited for studies of ancient mutations, while population genetic methods are better suited for studies of recent mutations. Methods that rely on recombination to infer the ages of alleles can be fine‐tuned by choosing linked markers at optimal map distances to maximize the information available about allele age. A limitation of methods that rely on recombination is the frequent lack of a fine‐scale linkage map. Maximum likelihood and Bayesian methods for estimating allele age that rely on intensive numerical computation are described, as well as “composite” likelihood and moment‐based methods that lead to simple estimators. The former provide more accurate estimates (particularly for large samples of chromosomes) and should be employed if computationally practical. Hum Mutat 18:87–100, 2001. © 2001 Wiley‐Liss, Inc.