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35 Cards in this Set
- Front
- Back
Locus
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-A corresponding physical location of a Mendelian trait within the chromosome set of an individual where this "physical entity of inheritance" resides
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What is the "physical entity of inheritance"?
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-Gene
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What is the Chromosomal Theory of Mendelism? Which researchers' concepts comprised this theory?
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-Chromosomes that carry genetic determinants through generational transmission
-Mendel and Sutton |
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In order to define the relative locations of many of the genes, _______ _____ through protein studies was performed.
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-Linkage mapping
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What is gene mapping?
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-the enterprise of specifying the detailed location of a trait locus to definable chromosomal regions
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What could be used to track very specific chromosomal regions through generations in a family?
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-DNA Marker Probes
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The exploding arsenal of DNA marker loci made it possible to construct a ____ ____ ____ ___ ___ that promised to further facilitate the mapping of trait loci.
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High-Density Genetic Marker
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What are some of the goals of the Human Genome Project?
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-Technology Development
-Defining human sequence variations -Defining gene functions (functional genomics) -Sponsoring genome initiatives of other organisms (comparative genomics) -Examining the ethical, legal and social implications (ELSI) -Improvement of bioinformatics and computational capabilities -Personal training |
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What was a major impediment of DNA Sequencing?
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-Cost
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What is Genetic Bioinformatics?
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-Refers to the treatment of the genetic sequence as a database from which valuable computational deductions about biological function and evolutionary history can be made
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What does genome annotation include?
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-ID and localization of genes
-Categorization of genes into families -Establishment of functional domains of genes -Finding homologous genes in human and non-human genomes |
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The ____ _____ is the script according to which the coding DNA sequence in a gene is eventually translated into proteins.
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Genetic Code
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What 4 categories can be taken from the nucleic acid world?
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-Control of Protein Production
-From DNA to protein -Evolution -Structure of DNA and RNA |
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What is the genome of an organism?
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-Total set of different DNA molecules
(Humans= 24 nuclear chromosomes and the mitochondrial chromosome) |
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What is comparative genomics?
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-Examines the similarities and differences between genomes of different organisms
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What does comparative genomics facilitate?
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-Gene Prediction and discovery
-Evolutionary Studies |
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What is transcriptome?
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-the total set of RNA transcripts and their covalent modifications that occur within a given type of cell at a specific time and stage of development
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______ is the study of transcriptomes--including their quantitative profiles--in cells.
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Transcriptomics
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What can transcriptomics determine about biological systems?
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-How biological systems malfunction or mal-adapt
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What is the most common method to study transcriptomic differences between cells or tissues at different states?
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-The expression microarray analysis
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What is a proteome?
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The total set of protein products and their covalent modifications that occurs within a given type of cell at a specific time and stage of development
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What are the division of a proteome? (3)
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-Expression proteomics
-Cell-map proteomics (or cellular proteomics) -Structural proteomics |
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Describe Expression Proteomics (3)
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-Change in protein expression and modification in response to perturbation
-Relative abundance of specific proteins in a given tissue in different states -Important for identifying markers for disease and targets for intervention |
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Describe Cell-map proteomics (or cellular proteomics)
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-Protein-protein interactions occurring in a cell under given conditions
-Network of intracellular signaling pathways -Important for predicting the consequences of therapeutic interventions |
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Describe Structural Proteomics (5)
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-3-D structure of all proteins within a cell
-Definition of active sites, and functional domains of all proteins to provide understanding of structural-functional correlations -Important for identifying functional domains for rational drug design |
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A _______ is the total set of small molecules that occur within a given type of cell at a specific time and stage of development.
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-Metabolome
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______ provides a description of the metabolic state of a cell (or tissue) at a level that is closest to where most pharmaceutical interventions need to occur.
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-Metabolomics
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What are some common techniques of metabolomics?
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-Liquid and gas chromatography
-Various platforms of mass spectrometry |
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What are common methods used in proteomic studies?
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2-D polyacyrlamide gel electrophoresis (PAGE), liqud chromotography, various modalities of mass spectrometry and protein or peptide microarrays
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Transcriptomics and proteomics are sometimes grouped together and called _______ _______
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functional genomics
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What do comparative genomic studies help identify?
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-Genes that are uniquely human
-Unique genetic elements that partly define what makes us human (ex: dyslexia and many other psychiatric disorders) |
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Why is understanding the genomes of real or potential human pathogens important?
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-Such info may enhance our ability to combat diseases they cause
(ex: finding critical pathways in the life cycle of Plasmodium suitable for drug development) |
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What has understanding of genomes of corps and farm animals enhanced?
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-Ability to genetically increase the disease resistance of these species
-To improve/increase the content of essential nutrients that we deliver |
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What has manipulation of the genomes of other species enhanced?
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-Production of pharmaceuticals
(Ex: Hormone production by recombinant bacteria, production of proteins of therapeutic significance by recombinant mammals in the years to come) |
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Metagenomics
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the field of study that relates the differences in the genomes of the bacterial flora in human distal colon that is associated with different metabolic phenotypes (e.g. obesity)
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