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35 Cards in this Set

  • Front
  • Back
Locus
-A corresponding physical location of a Mendelian trait within the chromosome set of an individual where this "physical entity of inheritance" resides
What is the "physical entity of inheritance"?
-Gene
What is the Chromosomal Theory of Mendelism? Which researchers' concepts comprised this theory?
-Chromosomes that carry genetic determinants through generational transmission
-Mendel and Sutton
In order to define the relative locations of many of the genes, _______ _____ through protein studies was performed.
-Linkage mapping
What is gene mapping?
-the enterprise of specifying the detailed location of a trait locus to definable chromosomal regions
What could be used to track very specific chromosomal regions through generations in a family?
-DNA Marker Probes
The exploding arsenal of DNA marker loci made it possible to construct a ____ ____ ____ ___ ___ that promised to further facilitate the mapping of trait loci.
High-Density Genetic Marker
What are some of the goals of the Human Genome Project?
-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
What was a major impediment of DNA Sequencing?
-Cost
What is Genetic Bioinformatics?
-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
What does genome annotation include?
-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
The ____ _____ is the script according to which the coding DNA sequence in a gene is eventually translated into proteins.
Genetic Code
What 4 categories can be taken from the nucleic acid world?
-Control of Protein Production
-From DNA to protein
-Evolution
-Structure of DNA and RNA
What is the genome of an organism?
-Total set of different DNA molecules
(Humans= 24 nuclear chromosomes and the mitochondrial chromosome)
What is comparative genomics?
-Examines the similarities and differences between genomes of different organisms
What does comparative genomics facilitate?
-Gene Prediction and discovery
-Evolutionary Studies
What is transcriptome?
-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
______ is the study of transcriptomes--including their quantitative profiles--in cells.
Transcriptomics
What can transcriptomics determine about biological systems?
-How biological systems malfunction or mal-adapt
What is the most common method to study transcriptomic differences between cells or tissues at different states?
-The expression microarray analysis
What is a proteome?
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
What are the division of a proteome? (3)
-Expression proteomics
-Cell-map proteomics (or cellular proteomics)
-Structural proteomics
Describe Expression Proteomics (3)
-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
Describe Cell-map proteomics (or cellular proteomics)
-Protein-protein interactions occurring in a cell under given conditions
-Network of intracellular signaling pathways
-Important for predicting the consequences of therapeutic interventions
Describe Structural Proteomics (5)
-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
A _______ is the total set of small molecules that occur within a given type of cell at a specific time and stage of development.
-Metabolome
______ 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.
-Metabolomics
What are some common techniques of metabolomics?
-Liquid and gas chromatography
-Various platforms of mass spectrometry
What are common methods used in proteomic studies?
2-D polyacyrlamide gel electrophoresis (PAGE), liqud chromotography, various modalities of mass spectrometry and protein or peptide microarrays
Transcriptomics and proteomics are sometimes grouped together and called _______ _______
functional genomics
What do comparative genomic studies help identify?
-Genes that are uniquely human
-Unique genetic elements that partly define what makes us human (ex: dyslexia and many other psychiatric disorders)
Why is understanding the genomes of real or potential human pathogens important?
-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)
What has understanding of genomes of corps and farm animals enhanced?
-Ability to genetically increase the disease resistance of these species
-To improve/increase the content of essential nutrients that we deliver
What has manipulation of the genomes of other species enhanced?
-Production of pharmaceuticals
(Ex: Hormone production by recombinant bacteria, production of proteins of therapeutic significance by recombinant mammals in the years to come)
Metagenomics
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)