如何查找某一个基因的所有多态性位点
和任何事物一样,疾病的发生和发展受着外因(包括环境因素)和内因(机体功能状态)的影响,人类疾病常见的外因包括感染、中毒、外伤、理化因素和环境变化等,其作用是显而易见的。从19~20世纪,医学的发展对疾病外因的认识和处理取得了长足的进步,特别是对各种致病性病原体的检出手段日益先进,各种致病性微生物(细菌、病毒、寄生虫等)对机体的致病作用逐步明瞭。对这些感染性疾病所造成的病理、生理变化以及如何对其进行干预和防治措施,取得了很大的成绩。对外伤和中毒、理化因素的致病作用和处理也在不断进步。至于影响疾病发生发展的内因,人们虽然早已认识其存在,但由于缺乏足够的研究手段,单凭组织学和细胞水平的探索无法阐明其奥妙,因此长期停留在一个不具体的抽象概念上,例如,人们早已认识同一种疾病在不同人体有不同的表现,同样的外因条件有人可以得病,有人不得病。同样存在高血压、高血糖或高血脂,有人出现心血管损害,有人出现脑血管病变,有人则出现肾脏病变。对于这些现象通常都是以内因条件不同,身体素质、遗传背景的差异、机体功能状态不同等作为解释,内因条件成为一个含混的名词。这些差异的物质基础是什么它们的作用规律如何能不能事先了解和加以防范都只是作为一种悬念存在。一直到20世纪的中叶,随着分子生物学技术的发展,人们才充分认识到遗传基因的差异是疾病发生发展中内因的物质基础。同样的疾病在不同的人体存在着千差万别,主要是遗传基因背景不同所造成的。一种疾病临床表型的多样性与其遗传基因背景的差异是有内在联系的。
Biomolecular Interaction Network Database (BIND) archives biomolecular interaction,reaction,complex and pathway information curated from published experimental research
A database of physical and genetic interactions curated from the primary literatureGraphical layouts of interactions can be generated in a variety of file formats using Osprey
Domain Interaction MAp (DIMA) aims at becoming a comprehensive resource for functional and physical interactions among conserved protein-domainsThe scope of the resource comprises both experimental data and computational predictionsCurrently,DIMA is based on a domain phylogenetic profiling method and domain-domain contacts found in crystal structures (iPFAM)
Database of Interacting Proteins (DIP) catalogues experimentally determined interactions between proteinsIt combines information from a variety of sources to create a single,consistent set of protein-protein interactionsThe data stored within the DIP database are curated,both,manually by expert curators and also automatically using computational
approaches
Human Protein Reference Database (HPRD) represents a centralized platform to visually depict and integrate information pertaining to domain architecture,post-translational modifications,interaction networks and disease association for each protein in the human proteomeAll the information in HPRD has been manually extracted from the literature by expert biologists
InterDom is a database of putative interacting protein domains derived from multiple sources,ranging from domain fusions (Rosetta Stone),protein interactions (DIP and BIND),protein complexes (PDB),to scientific literature (MEDLINE)It focuses on providing supporting evidence for validating and annotating detected protein interactions and complexes based on putative protein domain interactions
Molecular INTeraction database (MINT) focuses on experimentally verified protein interactions mined from the scientific literature by expert curators
The Munich Information center for Protein Sequences (MIPS) has two protein-protein interaction resources:MPact representing yeast protein-protein interaction data which is very comprehensive and is often considered to be the gold standard dataset; and the Mammalian Protein-Protein Interaction (MPPI) Database containing manually curated high-quality data collected from the scientific literature by expert curators
The Prolinks database is a collection of inference methods used to predict functional linkages between proteinsThese methods include the phylogenetic profile method,the ge-ne cluster method,Rosetta Stone,and the gene neighbor method
Protein Structural Interactome MAP (PSIMAP) is a tool for viewing interactions among protein domains in terms of their structural families to analyze the large-scale patterns and evolution of interactomes among species
STRING is a database of known and predicted protein-protein interactionsThe interactions include direct (physical) and indirect (functional) associations; they are derived from four sources:genomic context; high-throughput experiments; coexpression; and previous
knowledge from databases and the scientific literatureSTRING quantitatively integrates interaction data from these sources for,currently,373 organisms,and transfers information between these organisms where applicableSTRING uses orthology information from the COG database
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