SLC26A4基因突变与耳聋

耳聋是最常见感觉障碍之一,与遗传关系密切.SLC26A4基因作为第二位的耳聋基因,与Pendred综合征(PS)和非综合征性聋DFNB4密切相关.SLC26A4基因突变主要与PS及DFNB4共同表现出的前庭水管扩大(EVA)相关,且不同种族及地区EVA患者该基因的突变频率及热点突变大不相同.SLC26A4基因的表现型与突变的类型关系不大,而是与等位基因数目相关.但目前SLC26A4基因突变的研究仍不完善.本文主要综述了近年来耳聋及SLC26A4基因的研究进展.     

Glutathione synthetase deficiency

Glutathione (GSH), one of the most important antioxidants in the eukaryotic organism, is synthesized in a two-step procedure where the last step is catalysed by the enzyme glutathione synthetase (GSS). GSS deficiency is inherited autosomal recessively, and patients with this disease can be divided into three groups, according to their clinical phenotype. Mildly affected patients have mutations affecting the stability of the enzyme, causing a compensated haemolytic anaemia; moderately affected patients have, in addition, metabolic acidosis; and severely affected patients also develop neurological defects and show increased susceptibility to bacterial infections. Moderately and severely affected patients have mutations that compromise the catalytic properties of the enzyme. 5-Oxoprolinuria appears in all three groups, but is more pronounced in the two latter groups. Today, no cure can be offered these patients; they are given vitamins C and E to boost their antioxidant levels, and bicarbonate to correct metabolic acidosis.Received 20 April 2005; received after revision 19 May 2005; accepted 20 May 2005     

Sperm enzyme activity analysis in individual sperm for detection of heritable mutations in mammals

Summary Male mice were injected i.p. with 2.5 mg/kg mitomycin C, 100 mg/kg ethyl nitrosourea or saline and mated with untreated virgin females five weeks later. Sperm from 64 of the F₁ male progeny were analyzed histochemically for acrosin, succinic dehydrogenase and alpha-glycerophosphate dehydrogenase activity. The frequency of F₁ males with sub-normal sperm enzyme activity was significantly higher among progeny from treated males than in controls. These results show that analysis of sperm enzyme activity in F₁ males is a practical method for detection of transmitted mutations induced in a treated parent.We gratefully acknowledge USPHS, NIEHS grant 1 RO1 ES02607-02 and technical assistance by G. M. Oldford.     

Gene inactivation triggered by recognition between DNA repeats

This chapter focuses on phenomena of gene inactivation resulting from the presence of repeated gene copies within the genome of plants and fungi, and on their possible relationships to homologous DNA-DNA interactions. Emphasis is given to two related premeiotic processes: Methylation Induced Premeiotically (MIP) and Repeat-Induced Point mutation (RIP) which take place in the fungiAscobolus immersus andNeurospora crassa, respectively. The relationships between these processes and genetic recombination are discussed.     

The polycystins: a novel class of membrane-associated proteins involved in renal cystic disease

Polycystin-1, polycystin-2 and polycystin-L are the predicted protein products of the PKD1, PKD2 and PKDL genes, respectively. Mutations in PKD1 and PKD2 are responsible for almost all cases of autosomal dominant polycystic kidney disease (ADPKD). This condition is one of the commonest mendelian disorders of man with a prevalence of 1:800 and is responsible for nearly 10% of cases of end-stage renal failure in adults. The cloning of PKD1 and PKD2 in recent years has provided the initial steps in defining the mechanisms underlying renal cyst formation in this condition, with the aim of defining pharmacological and genetic interventions that may ameliorate the diverse and often serious clinical manifestations of this disease. The PKD genes share regions of sequence similarity, and all predict integral membrane proteins. Whilst the predicted protein domain structure of polycystin-1 suggests it is involved in cell-cell or cell-matrix interactions, the similarity of polycystin-2 and polycystin-L to the pore-forming domains of some cation channels suggests that they all form subunits of a large plasma membrane ion channel. In the few years since the cloning of the PKD genes, a consensus that defines the range of mutations, expression pattern, interactions and functional domains of these genes and their protein products is emerging. This review will therefore attempt to summarise these data and provide an insight in to the key areas in which polycystin research is unravelling the mechanisms involved in renal cyst formation. Received 22 February 1999; received after revision 5 July 1999; accepted 6 July 1999     

Genetics of sleep and sleep disorders

Genetic factors affect sleep. Studies in twin pairs demonstrate that the strong hereditary influences on sleep architecture and some sleep disorders are transmitted through families. Evidence like this strongly suggests that sleep regulation receives significant influence from genetic factors. Although recent molecular technologies have revealed evidence that genetic traits or gene products trigger particular changes in sleep electroencephalogram activity, we are still far from finding candidate genes or multiple mutations responsible for individual sleep disorders. Sleep is a very complex phenotype. Genetic susceptibility and environmental factors should be also considered as contributors to sleep phenotype. The aim of this review is to present a current summary and future prospects for genetic studies on sleep and selected sleep-associated disorders. An erratum to this article is available at .     

Lack of mutagenicity of irradiated glucose inSalmonella typhimurium using host-mediated assay

Summary Experiments were conduced to study the ability of irradiated glucose to induce reverse, mutations inS. typhimurium by host-mediated assay. The results revealed no significant increase in the frequency of reverse mutations compared to controls.     

系统论视野下小流域生态补偿机制构建思路——以秋浦河为例

针对小流域生态补偿实践中存在的补偿标准偏低、静态、管理体制不健全、补偿方式单一等弊端,采用系统研究、文献分析、实证检验等方法,揭示了秋浦河流域生态补偿机制,包括流域协调与管理机制;生态补偿法律机制;多元补偿方式机制;政府主导,市场参与的多元融资机制;公众参与、监督机制;动态补偿机制;科学确定补偿标准机制。基于秋浦河上游生态服务主导效应因子价值、生态保护成本、发展机会成本,下游社会经济发展实际,2009年下游补偿上游金额为41448．0277。秋浦河流域生态补偿机制构建,有利于促进秋浦河流域上、下游协调发展与社会公平,可为我国小流域生态补偿构建与实践提供借鉴与参考。     

斜齿三星轮装载机构的谐响应分析

为了研究斜齿三星轮装载机构的动力学行为,利用更新的拉格朗日法建立了钭齿三星轮的力学模型、用Ansys软件创建了星轮机构的模型,由谐响应分析给出了不同激振频率下的星轮等效应力云图以及星轮机构位移响应随频率变化的曲线,由此得到了星轮机构的最大应力,确定了发生应力集中的位置和星轮稳定运行的转速,为研究斜齿三星轮的动力学性质以及改进该型星轮装载机构的设计奠定了基础.     

Molecular mechanism of actomyosin-based motility

Sophisticated molecular genetic, biochemical and biophysical studies have been used to probe the molecular mechanism of actomyosin-based motility. Recent solution measurements, high-resolution structures of recombinant myosin motor domains, and lower resolution structures of the complex formed by filamentous actin and the myosin motor domain provide detailed insights into the mechanism of chemomechanical coupling in the actomyosin system. They show how small conformational changes are amplified by a lever-arm mechanism to a working stroke of several nanometres, explain the mechanism that governs the directionality of actin-based movement, and reveal a communication pathway between the nucleotide binding pocket and the actin-binding region that explains the reciprocal relationship between actin and nucleotide affinity. Here we focus on the interacting elements in the actomyosin system and the communication pathways in the myosin motor domain that respond to actin binding.Received 12 January 2005; received after revision 4 March 2005; accepted 23 March 2005     

基于开放式的错误处理机制的设计与实现

本文探讨了软件项目中错误处理机制的作用及应用需求，结合软件项目开发中的实践经验，利用XML进行配置和描述，巧妙地设计与实现了一种通用的，基于开放式的错误处理机制，该机制配置灵活、操作方便、通用性好.     

植物抗旱分子机理研究进展

干旱胁迫是影响植物生长发育的主要逆境因子之一,高等植物在长期进化过程中,逐渐演变产生了对干旱胁迫的防御机制,以最大限度减轻干旱胁迫造成的伤害。本文概述了植物耐旱生理及其分子机制。     

Kinetic analysis of lactate dehydrogenase using integrated rate equations

The reaction catalyzed by lactate dehydrogenase was analyzed under fully second-order conditions using integrated rate equations. A two-step regression analysis was utilized to fit twenty-one progress curves repeated in sextuplicate to the general mechanism second-order integrated rate equation with additional terms for substrate inhibition. The fitting error was less than one percent. The resulting kinetic constants support a ternary complex mechanism; in no case were constants supporting another mechanism predicted. The inhibition constant for oxamate was also determined.     

基于GTK＋on DirectFB的嵌入式GUI画面更新问题的研究

在使用GTK＋on DirectFB开发基于Linux OS的嵌入式MP4 GUI过程中，采用传统的画面机制进行设计开发，在画面更新时会出现明显的画面闪烁现象。虽然这种机制实现简单适用于嵌入式系统，但却影响画面的美观性。针对此问题，本文提出了一种局部更新和公用窗口的新机制来解决GUI画面的更新问题。通过建立PC机仿真环境，对新旧两种更新机制进行对比分析，新机制不但更新效率高而且系统资源占有率少。仿真结果表明，新画面机制优于传统机制。     

基于 SimMechanics的6 PTS并联机构仿真与分析

简要介绍了某种大工作空间快速运动并联机构,基于动平台和基座滑块之间的矢量关系推导出该机构的运动学逆解,并利用 SimMechanics仿真工具对该机构进行了仿真研究.通过对仿真结果的分析,该机构运动平稳、驱动力变化连续平滑,运动学及动力学性能良好,验证了机构的合理性;通过对该机构的优化设计,提高了该机构的运动学及力学性能,为进一步的结构综合尺寸优化奠定了基础     

Amphibian sex determination and sex reversal

Amphibians employ a genetic mechanism of sex determination, according to all available information on sex chromosomes or breeding tests. Sex reversal allows breeding tests to establish which sex is heterogametic and provides an indication of the mechanism of sex determination. Cases of spontaneous and experimental sex reversal (by temperature, hormones or surgery) are reviewed and illustrated by previously unpublished studies on crested newts. These newts respond conventionally to temperature and hormone treatment but provide anomalous results from breeding tests. It is suggested that both the evolution from temperature dependency to a genetic switch and from ZZ/ZW to XX/XY are superimposed on a generally uniform mechanism of sex determination in all vertebrates.     

基于MATLAB/GUI的采煤机工作机构载荷计算软件的开发

采煤机工作机构的载荷是采煤机设计与分析的一个重要指标,有效、准确地对采煤机滚筒载荷进行计算至关重要.基于Matlab语言.利用其强大的运算功能以及简洁、直观的GUI人机交互界面,设计出了人机交互友好、使用方便的采煤机工作机构载荷计算平台.并且对究煤集团＂含硫化铁矿结核体薄煤层采煤机截割部可靠性研究＂项目中采煤机工作机构的载荷进行了模拟和验证,得出该计算软件是可靠的,对处理复杂非线性载荷具有重要参考价值.     

一种动态的客户端负载均衡机制

互联网应用的并发用户数量不仅多变并且这种变化常常不可预测．将系统容量配置为固定值的惯用做法在面临多变的请求时常常会导致两种结果,一种是因为配置过低而弓l起用户的不满,另一种则因为配置过高而造成计算资源的浪费．而通过运用云架构按需提供、按使用收费的能力,系统具有了实时地按需配置计算资源的能力．然而静态的客户端负载均衡方法作为一种主要的负载均衡技术很难适应云架构条件下更加易变的集群结构．本文提出了一种动态的客户端负载均衡机制．通过引入分布式的集群视图更新、控制流等技术,该机制在保持客户端负载均衡机制分布式、可伸缩性强的基础上,又为集群节点的动态加入与退出和负载均衡策略的动态调整提供了有效的支持．同时,本文分析了该机制在一个开源JEE应用服务器PKUAS中的关键实现问题,并通过实验从多方面验证了该机制的有效性．