人类21号染色体与疾病

21号染色体是人类染色体中最小的常染色体,由日本等13个国家的研究单位组成的国际基因组已完成了21号染色体的DNA序列分析,其99．7％的序列已被测定。21号染色体长臂（21q)DNA,由33546361bp组成,其中只剩下3个小的克隆裂隙和7个序列裂隙（约100kb)尚未确定,在21q,q的近着丝粒处有21q远,近区域存在很多重复序列。21号染色体有39个断裂点,原因是由于21号染色体与其他染色体发生相互易位、21号染色体内重排或受到辐射所致。人类21号染色体上的特异基因与小鼠16、17及10号染色体上的某些基因互为同质异构基因,显示了基因组在进化过程中的变异性和保守性,21号染色体基因密度较小,含有127个已知基因,98个预报基因和59个假基因,21号染色体与Down′s综合征,某些单基因遗传紊乱,某些复杂疾病（双相情感障碍、家族性复合高血脂症）、实体瘤及白血病的发生有关。     

人类第1号染色体基因测序完毕

英美科学家近日公布了人类第1号染色体的基因测序图,这个染色体是人类“生命之书”中最长也是最后被破解的一章。第1号染色体中共有2．23亿个碱基对,占人类基因组中碱基对总量的8％左右。科学家这次测序确定了人类第1号染色体     

人类7号染色体专特性探针池的构建及应用

本文明显微切割、ＰＣＲ技术和染色体绘画技术,构建了人类第七号染色体特异性探针池,并完成了一个７号染色体结构异常患者的家系分析。     

9号染色体臂间倒位21例分析

在２ ７０３ 例遗传咨询门诊病例中检出９ 号染色体臂间倒位２１ 例,将本组ｉｎｖ（９）的频率与普通群体ｉｎｖ（９）的频率作比较,并通过对伴有其它性状的ｉｎｖ（９）家系的分析,讨论了ｉｎｖ（９）的遗传效应问题。     

陕西省汉族人群11号染色体10个STR基因座的遗传多态性研究

为了分析陕西汉族人群中11号染色体上10个短串联重复序列(short tandem repeat, STR)基因座的多态性,采用荧光标记基因扫描方法,对11号染色体上的D11S1760、D11S4102、D11S4116、D11S4207、D11S4162、D11S914、D11S4127、D11S917、D11S4146和^D11S915基因座的遗传多态性进行分析。结果显示：D11S1760、D11S4102、D11S4116、D11S4207、D11S4162、D11S914、D11S4127、D11S917、D11S4146和D11S915基因座分别检出17、11、15、11、4、6、7、12、11和13个等位基因,41、18、36、30、8、10、16、30、29和32个基因型,等位基因型符合Hardy-Weinberg平衡（P>0.05）。其杂合度分别为86.72%、67.95%、83.90%、85.96%、58.18%、57.63%、72.60%、72.73%、77.87%和86.40%,表明11号染色体上的这10个STR基因座在汉族人群中有较好的多态性,是理想的遗传标记物。     

人类染色体着丝粒蛋白研究进展

人类染色体着丝粒蛋白研究进展朱学良（中国科学技术大学生物系合肥２３００２６）１着丝粒、动植和着丝粒一动粒复合体细胞分裂过程中姐妹染色体的均等分离是一切生物赖以生长和繁殖的基础之一。着丝粒（ｃｅｎｔｒｏｍｅｒｅ）是染色体位于初缢痕的部分,在光学显微镜下...     

1200条带阶段的人类染色体高分辨G带

在改良的850条带阶段的人类染色体高分辨显带技术基础上,对1200条带阶段的人类染色体高分辨G带进行了研究和识别,并按ISCN(1985)的规定对1200条带阶段的高分辨G带进行了命名和划分。     

人类人工染色体的构建策略

目前各种应用于基因治疗领域的载体均存在一定的局限性。越来越多的研究认为,最理想的基因治疗载体应该在染色体的结构基础上构建,使目的基因整合舌能够作为独立的功能单位表达,或成为游离基因而稳定存在。人类人工染色体(human artificial chromosome,HAC)的出现,使这种设想成为可能。近年来,研究们基于两种基本策略相继构建多种HAC,并以之作为载体进行了一系列外源性基因表达研究,尽管还有许多问题亟待解决,但并不妨碍人们对之成为理想的基因治疗载体寄予厚望。     

应用引物原位标记技术检测21号染色体

应用原位引物标记技术（PRINS）检测了21号染色体着丝粒,在外周血和绒毛细胞的标记效率分别为91％和93％,实验过程可以在2h之内完成,证明这一检测方法是一种快速、灵敏、特异性良好的染色体数目检测方法,有可能用于21号染色体数目异常的快速诊断。     

Eighteen Novel Human Genes Regionally Mapped on Chromosome 11

Expression sequence tags (EST) obtained by sequencing a randomlyprimed cDNA library and gene signatures (GS) obtained by sequencinga 3'-directed cDNA library can identify genes that are activein the source cells. Eight ESTs and ten GSs which representnovel human genes, except for one GS, and which have been assignedto human chromosome 11 were used to select cosmids from a chromosome11-specific cosmid library. These cosmids were regionally mappedusing the fluorescence in situ hybridization technique.     

Involvement of Reactive Oxygen Species in Capsaicinoid-induced Apoptosis in Transformed Cells

Some varieties of sweet pepper accumulate non-pungent isosters of capsaicin, a type of compounds exemplified by capsiate. The only structural difference between capsaicin and capsiate is the link between the vanillyl and the acyl moieties, via an amide bond in the former and via an ester bond in the latter. By flow cytometry analyses we have determined that nor-dihydrocapsiate, a simplified analogue of capsiate, is a pro-oxidant compound that induces apoptosis in the Jurkat tumor cell line. The nuclear DNA fragmentation induced by nor-dihydrocapsiate is preceded by an increase in the production of reactive oxygen species and by a subsequent disruption of mitochondria transmembrane potential. Capsiate-induced apoptosis is initiated at the S phase of the cell cycle and is mediated by a caspase-3-dependent pathway. The accumulation of intracellular reactive oxygen species in capsiate-treated cells is greatly prevented by the presence of ferricyanide, suggesting that capsiates target a cellular redox system distinct from the one involved in the mitochondrial electron-chain transport. Methylation of the phenolic hydroxyl of nor-dihydrocapsiate completely abrogated the ability to induce reactive oxygen species and apoptosis, highlighting the relevance of the presence of a free phenolic hydroxyl for the pro-oxidant properties of capsaicinoids.     

Cross-Talk between Reactive Oxygen Species and Calcium in Living Cells

The results of many investigations have shown that calcium is essential for production of reactive oxygen species (ROS). Elevation of intracellular calcium level is responsible for activation of ROS-generating enzymes and formation of free radicals by the mitochondria respiratory chain. On the other hand, an increase in intracellular calcium concentration may be stimulated by ROS. H₂O₂ has been recently shown to accelerate the overall channel opening process in voltage-dependent calcium channels in plant and animal cells. The 1,4,5-inositol-triphosphate-receptors as well as the ryanodine receptors of sarcoplasmic reticulum have also been demonstrated to be redox-regulated. Activity of Ca²⁺-ATPases and Na²⁺/Ca²⁺ exchangers of animal cells are modulated by the intracellular redox state. Simultaneously, Ca²⁺ may activate antioxidant enzymes, such as plant catalase and glutathione reductase, and increase the level of superoxide dismutase in animal cells. Reviewed data support the speculation that Ca²⁺ and ROS are two cross-talking messengers in various cellular processes.     

Reactive Oxygen Species and Human Inflammatory Periodontal Diseases

Reactive oxygen species (ROS) have emerged as important signaling molecules in the regulation of various cellular processes. They can be generated by the mitochondrial electron transport chain in mitochondria and activation of polymorphonuclear leukocytes (PMN) during inflammatory conditions. Excessive generation of ROS may result in attack of and damage to most intracellular and extracellular components in a living organism. Moreover, ROS can directly induce and/or regulate apoptotic and necrotic cell death. Periodontal pathologies are inflammatory and degenerative diseases. Several forms of periodontal diseases are associated with activated PMN. Damage of tissues in inflammatory periodontal pathologies can be mediated by ROS resulting from the physiological activity of PMN during the phagocytosis of periodontopathic bacteria.__________Translated from Biokhimiya, Vol. 70, No. 6, 2005, pp. 751–761.Original Russian Text Copyright © 2005 by Canakci, Cicek, Canakci.     

Role of Reactive Oxygen Species and Glutathione in Inorganic Mercury-Induced Injury in Human Glioma Cells

The present study was undertaken to examine the role of reactive oxygen species (ROS) and glutathione (GSH) in glia cells using human glioma cell line A172 cells. HgCl₂ caused the loss of cell viability in a dose-dependent manner. HgCl₂-induced loss of cell viability was not affected by H₂O₂ scavengers catalase and pyruvate, a superoxide scavenger superoxide dismutase, a peroxynitrite scavenger uric acid, and an inhibitor of nitric oxide N^G-nitro-arginine Methyl ester. HgCl₂ did not cause changes in DCF fluorescence, an H₂O₂-sensitive fluorescent dye. The loss of cell viability was significantly prevented by the hydroxyl radical scavengers dimethylthiourea and thiourea, but it was not affected by antioxidants DPPD and Trlox. HgCl₂-induced loss of cell viability was accompanied by a significant reduction in GSH content. The GSH depletion was almost completely prevented by thiols dithiothreitol and GSH, whereas the loss of viability was partially prevented by these agents. Incubation of cells with 0.2 mM buthionine sulfoximine for 24 hr, a selective inhibitor of -glutamylcysteine synthetase, resulted in 56% reduction in GSH content without any change in cell viability. HgCl² resulted in 34% reduction in GSH content, which was accompanied by 59% loss of cell viability. These results suggest that HgCl₂-induced cell death is not associated with generation of H₂O₂ and ROS-induced lipid peroxidation. In addition, these data suggest that the depletion of endogenous GSH itself may not play a critical role in the HgCl₂-induced cytotoxicity in human glioma cells.     

自噬发生中的ROS调节机制

活性氧是细胞代谢中产生的有很强反应活性的分子,易将邻近分子氧化,并参与细胞内多种信号转导途径,对相关生理过程进行调控．自噬是真核细胞通过溶酶体机制对自身组分进行降解再利用的过程,在细胞应激及疾病发生等过程中发挥重要作用．本文对活性氧和自噬相关调节进行分类介绍,根据新近研究进展,从活性氧参与的自噬性死亡、自噬性存活以及线粒体自噬3方面探讨了相关信号转导机制,对活性氧作为信号分子参与的自噬调控途径做一总结和介绍．     

植物细胞活性氧种类、代谢及其信号转导

越来越明显的证据表明,植物体十分活跃的产生着活性氧并将之作为信号分子、进而控制着诸如细胞程序性死亡、非生物胁迫响应、病原体防御和系统信号等生命过程,而不仅是传统意义上的活性氧是有氧代谢的附产物。日益增多的证据显示,由脱落酸、水杨酸、茉莉酸与乙烯以及活性氧所调节的激素信号途径,在生物和非生物胁迫信号的“交谈”中起重要作用。活性氧最初被认为是动物吞噬细胞在宿主防御反应时所释放的附产物,现在的研究清楚的表明,活性氧在动物和植物细胞信号途径中均起作用。活性氧可以诱导细胞程序性死亡或坏死、可以诱导或抑制许多基因的表达,也可以激活上述级联信号。近来生物化学与遗传学研究证实过氧化氢是介导植物生物胁迫与非生物胁迫的信号分子,过氧化氢的合成与作用似乎与一氧化氮有关系。过氧化氢所调节的下游信号包括钙“动员”、蛋白磷酸化和基因表达等。     

水环境中活性氧的来源、种类及测定方法

各种环境介质和生命体中许多微观化学过程都与活性氧密切相关.本文介绍了水环境中活性氧的来源、种类和测定.它们主要包括:¹O₂(单线态氧)、O₂^-(超氧自由基)/HO₂·(氢过氧自由基)、·OH(羟基自由基)、H₂O₂、RO·(烷氧基)、ROO·(烷过氧基)和R·OH(氢过氧化物)等.其主要来源于辐射分解、热解和氧化还原法等.测定采用分子探针法、图谱法和酶法.     

Construction of YAC Contigs at Human Chromosome 11q22.3-q23.1 Region Covering the Ataxia Telangiectasia Locus

Ataxia telangiectasia (AT) is an autosomal recessive diseaseof unknown etiology associated with cerebellar ataxia, telangiectasia,immune dysfunction, higher cancer risk, genomic instabilityand hypersensitivity to ionizing radiation. The major AT loci,AT-A and AT-C, are shown to be closely linked at chromosome11q22–q23. The most recent genetic linkage mapping andlinkage disequilibrium analysis have localized the major ATloci to a sequence of approximately 850 kb between the markersD11S1819 and D11S1818. The isolation of yeast artificial chromosomesspanning the AT region is an essential step to identify thegene or genes responsible for the mutation(s). We isolated atotal of 20 YAC clones from three independent YAC libraries,using sequence tagged sites mapped in the AT region as primersfor PCR-based YAC screening. The PCR assay for the presenceor absence of 16 different DNA markers allowed us to constructand to order four YAC contigs at the AT region. One of the contigswhich consists of the 10 YAC clones, covers about 2 Mb of DNAat the boundary between Giemsa-positive band 11q22.3 and Giemsa-negativeband 11q23.1 and includes the entire region of the major ATlocus between D11S1819 and D11S1818. Thus, the YAC contigs willfacilitate the positional cloning approach for searching transcribedsequences from the defined genomic region.     

植物中活性氧的产生及清除机制

环境胁迫使植物细胞中积累大量的活性氧,从而导致蛋白质、膜脂、DNA及其它细胞组分的严重损伤。植物体内有效清除活性氧的保护机制分为酶促和非酶促两类。酶促脱毒系统包括超氧化物歧化酶(SOD)、抗坏血酸过氧化物酶(APX)、过氧化氢酶(CAT)和谷胱甘肽过氧化物酶(GPX)等。非酶类抗氧化剂包括抗坏血酸、谷胱甘肽、甘露醇和类黄酮。利用基因工程策略增加这些物质在植物体内的含量,从而获得耐逆转基因植物已取得一定的进展。