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  1. What impacts have genetics technology had on our society?
    • Recombinant DNA Technology: ability to insert DNA fragments into bacteria to have them produce a given product (insulin)
    • Agriculture: viral resistance, nutritional enhancement, herbicide resistance
    • Medical: genetic testing, gene therapy, pharmacogenetics
    • Legal: Forensic DNA applications
    • Bioethics: savior siblings, stem cell therapy, preimplantation genetic diagnosis
  2. Define eugenics and describe the difference between positive and negative eugenics.
    • Practices involved in improving the genetic composition of a population
    • Positive eugenics is aimed at encouraging reproduction among the genetically advantaged
    • Negative eugenics is aimed at lowering fertility among the genetically disadvantaged
  3. List chromosome designation terms (arms, and centromere location)
    • p arm: petite arm (smaller)
    • q arm: longer arm
    • metacentric: centromere in middle
    • submetacentric: centromere between middle and end
    • acrocentric: centromere close to end
    • telocentric: centromere at end
  4. Stages, substages, and checkpoints of cell cycle
    • Interphase (G0, G1, S, and G2) and mitosis (prophase, prometaphase, metaphase, anaphase, telophase)
    • G0: Nondividing cells
    • G1: Cells become committed to division or enter G0
    • G1/S checkpoint: monitors cell size and DNA integrity
    • S: DNA is synthesized
    • G2:
    • G2/M checkpoint: Cell monitors DNA synthesis and damage
    • M checkpoint: (during mitosis) Cell monitors spindle formation and attachment to kinetochores
  5. Stages of mitosis
    • Prophase: chromosomes coil up and shorten; centrioles divide and move apart
    • Prometaphase: chromosomes are clearly double structures; centrioles reach the opposite poles; spindle fibers form
    • Metaphase: Centromeres align on metaphase plate
    • Anaphase: Centromeres split and daughter chromosomes migrate to opposite poles
    • Telophase: Daughter chromosomes arrive at the poles; cytokinesis commences
  6. Stages of meiosis
    • (Prophase I) Leptonema: chromasomes become visible, chromomeres aid in homology search
    • (Prophase I) Zygonema: chromasomes continue to condense, homologous chromosomes align, synaptonemal complex forms between homologs, at end # of bivalents = haploid number of species
    • (Prophase I) Pachynema: Homologs undergo more intimate pairing (synapsis), each bivalent contains two pairs of sister chromatids (paternal/maternal), nonsister chromatids cross over at chiasma,
    • (Prophase I) Diplonema: result of crossing over is visible
    • (Prophase I) Diakinesis: nucleolus/envelope break down and centromeres of each tetrad attach to spindle fibers
    • Metaphase I: tetrads are alligned at equator
    • Anaphase I: One half of each tetrad is pulled toward each pole (separation of homologous chromosomes)
    • Telophase I: Cytokinesis commences
    • Prophase II: Each diad (sister chromatids) moves toward center plate
    • Metaphase II: each dyad is aligned at equitorial plate
    • Anaphase II: Sister chromatids  are pulled to opposite poles (# of dyads = haploid #)
    • Telophase II: One member of each pair of homologous chromosomes present at each pole, cytokinesis occurs
  7. Oogenesis vs. Spermatogenesis
    • Spermatogensis: spermatogonium (diploid) -> primary spermatocyte (first meiotic division) -> secondary spermatocyte (second meiotic division) -> spermatids (4 total) -> spermatozoa (fully motile)
    • Oogenesis: Oogonium (diploid) -> primary oocyte -> secondary oocyte/first polar body -> ootid/second polar body -> mature ovum
  8. Mendel's experimental design
    • Didn't allow random pollination
    • Used true-breed plants
    • Pisum Satvium (pea plant)
    • P1 (parental strains) -> F1 (Parental cross) -> F2 (selfed F1)
    • "luckily" chose traits that were not on the same chromosome
  9. Mendel's 4 postulates
    • 1. Inheritable unit factors exist in pairs
    • 2. Dominance/Recessiveness
    • 3. Segregation
    • 4. Independent assortment of traits
  10. What is a test cross?
    Determination of the genotype (AA vs Aa) of something showing the dominant trait by crossing with recessive.
  11. binomial theorum
    • P= (N!/s!t!)(asbt)
    • N = total # of events
    • a = outcome #1 probability
    • b = outcome #2 probability
    • s = outcome #1 amount
    • t = outcome #2 amount
  12. What are the extensions of mendelian genetics?
    • Incomplete dominance: phenotype is intermediate
    • Codominance: both alleles are equally expressed
    • Multiple alleles: more than 2 alleles in a population
    • epistasis: alleles at one locus override expression of alleles at a different locus (epistatic vs hypostatic)
  13. sex limited vs sex influenced vs sex linked w/ examples
    • Sex-limited: Occurs only in one sex (development of ovaries)
    • Sex-influenced: gene is on autosomal chromosome but phenotype influenced by sex hormones (male pattern baldness)
    • Sex-linked:Genes on the sex chromosomes
  14. Examples of X-linked conditions
    • colorblindness
    • hemophilia
    • icthyosis
    • lesh-nyhan syndrome
    • muscular dystrophy
  15. Penetrance vs expressivity
    • Penetrance: the chance that the genotype will be properly reflected in the phenotype (% likliness)
    • Expressivity: Degree to which you express a trait can vary
  16. Genomic imprinting and uniparental disomy
    • Genomic imprinting Examples: Prader-Willi, Angelman syndrom
    • Genomic imprinting: During meiosis one gene is silenced (either M or F), and the others end up with the unsilenced gene. 
  17. epigenetics and the human epigenomic project
    • Epigenetics involves the changing of gene expression without the altering of DNA (methylation, coformation, etc)
    • HEP: attempt to catalog methylation sites in all human chromosomes in different tissues.
  18. Complementation test analysis
    • Analytical process to determine whether there is genetic heterogeneity for a particular trait (more than one gene gives phenotype)
    • If mutations are on the same gene they will NOT compliment (no wild type appears)
    • If mutations are on different genes they will complement (wild type appears)
  19. Mechanisms that exist for sex determination
    • Heterogametic sex chromosomes
    • Ratio of autosomes to X chromsomes (Drosophila)
    • Temperature (reptiles)
Card Set:
2012-09-18 09:17:08

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