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生物医学发展的一个新动向--蛋白质组研究现状和展望
1 介绍1.1 蛋白质组的概念二十世纪七十年代以来,对于生命体的研究集中在基因组学和基因工程.1988年发起的人类基因组规划(the human genome project,HGP),大大推动了分子生物学的发展,在不久的将来,所有分子水平上的遗传信息便会被破译.
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从国际论文分析我国对人类新基因功能研究的贡献
自1990年人类基因组计划(human genome proiect,HGP)启动至2006年5月人类一号染色体的测序结束[1]标志着人类基因组计划的终完成.伴随其他诸多物种基因组的解读,生物学和医学研究的重点也已转向功能基因组学,这是一个隐藏着巨大产业化潜能和经济效益并与人类健康息息相关的领域.据2008年人类基因及转录本数据库(H-invitational database,H-InvDB)统计,迄今已注释的人类编码基因为34 057个,而有功能的基因只有12 404个[2].因此,大量人类新基因及其蛋白功能的开发研究仍有待于进一步发掘.
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国际人类基因组关于药物基因组学的声明:团结互助,公平和管理
编者按国际人类基因组组织(The Human Genome Organisation,HUGO)是从事人类遗传学研究科学家的国际性组织.创立于1989年,其宗旨是促进该领域可持续发展的国际合作.伦理委员会是HUGO 四个委员会之一,该委员会关注进行人类基因组研究和应用人类基因组知识时提出的社会,法律和伦理问题,其使命是促进对这些问题的讨论和理解.该委员会定期发表声明,作为遗传学研究的指导准则.
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肿瘤基因识别与肿瘤蛋白标志物的统一
1990年,随着大规模人类基因组计划(the human genome project)的实施,生命科学研究在21世纪初进入了全新的功能基因组学研究时代,即分离和鉴定在细胞中所有表达的蛋白质,并对其功能进行深入的研究,以回答临床和基础医学研究中众多的生物学问题.于是,以蛋白质组学(proteomics)、转录本组学(transcriptomics)和生物信息学(bioinformatics)相结合的研究便成为当前生命科学研究前沿的热点.
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“基于母血浆深度测序的胎儿亚显微染色体异常无创伤性检测”点评
1 原文摘要The purpose of this study was to determine the deep sequencing and analytic conditions needed to detect fetal subchromosome abnormalities across the genome from a maternal blood sample.Cellfree (cf) DNA was isolated from the plasma of 11pregnant women carrying fetuses with subchromosomal duplications and deletions,translocations,mosaicism,and trisomy 20diagnosed by metaphase karyotype.Massively parallel sequencing (MPS) was performed with 25mer tags at approximately 109 tags per sample and mapped to reference human genome assembly hg19.
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专题演讲-W1毒理基因组学与蛋白质组学
Pharmacogenomics was established on the fact that certain genetic polymorphisms may cause significantly different responses among individuals exposed to a particular drug. Single nucleotide polymorphism (SNP) is the most common form of genetic polymorphism in human genome.
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The Beige and Chediak-Higashi (BEACH) domain is highly conserved in a large family of eukaryotic proteins, and is crucial for their functions in vesicle trafficking, membrane dynamics and receptor signaling. From a fetal brain cDNA library, we isolated a cDNA of 3858 bp encoding a novel human BEACH protein, which was named as human neurobeachin-like 1 (NBEAL1) gene. The cDNA had an open reading frame (ORF) of 3006 bp encoding a putative 1001 amino acid protein. The NBEAL1 gene was located on human chromosome 2q33-2q34 and consisted of 25 exons spanning about 73 kb of the human genome. PSORT analysis indicated that the NBEAL1 protein contained a vacuolar-targeting motif ILPK, which suggested the protein might be located in the cell lysosome. The expression pattern was examined by reverse transcription/polymerase chain reaction (RT-PCR), which showed that the transcripts were highly expressed in the human brain, kidney, prostate, and testis while lowly in the ovary, small intestine, colon and peripheral blood leukocyte. In addition, the RT-PCR result of and Northern blot showed that the novel gene was highly expressed in the biopsies of different grade glioma, especially in that of lower grade ones, which suggested it might be correlative with the glioma.
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基因组时代的肿瘤遗传易感性研究现状与挑战
2003年4月14日,国际人类基因组测序组织(the International Human Genome Sequencing Consortium,IHGSC)正式对外宣布:人类基因组测序工作完成,人类基因组计划的所有目标均已实现.随着这一计划的完成以及成千上万的人类遗传变异的终阐明,科学家们看到了从遗传的角度破译肿瘤致病密码的希望.
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Today we are living in an information era. Everyone can see what a tremendously change has been brought by the using of the computers. The advent of the computer chip let us embed our smarts in everything from satellite to greeting cards to internet. People said that the human genome project is the second "Apollo". Human Genome Project, the international effort that is expected to unravel the structures of all 30 000 to 35 000 or so human genes by 2003. But deconstructing the genome is only the first step-like learning to pick out words in a foreign language before grappling with their meanings. Realizing the gene revolution's potential will require understanding how genes collaborate to cement memories in our brains, say, or how they malfunction to change a healthy adult into one dying of cancer. That's the goal of the second phase of the revolution, functional genomics.
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1 IntroductionRecent progress in molecular biology has enabled us to better understand the molecular mechanism underlying pathogenesis of human malignancy including lung cancer. Sequencing of human genome has identified many oncogenes and tumor suppressor genes,giving us a better understanding of the molecular events leading to the formation, progression, metastasis, and the development of drug resistance in human lung cancer. In addition, many signal transduction pathways have been discovered that play important roles in lung cancer. Novel strategy of anti-cancer drug development now involves the identification and development of targeted therapy that interrupts one or more than one pathways or cross-talk among different signal transduction pathways. In addition, efforts are underway that combine the traditional cytotoxic (non-targeted) agents with the biological (targeted) therapy to increase the response rate and survival in patients with lung cancer, especially advanced non-small cell lung cancer (NSCLC).