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5 Written questions

5 Matching questions

  1. What are characteristics of complex traits
  2. Types of Expansion Repeats Class II
  3. Increased cM means
  4. What is the potential difficulty associated with quantifying role of genetic factors?
  5. Heritability
  1. a Increased distance/unlinked-ness
  2. b Amount of total variation that is due to genes. If something has heritability it means that differences among individuals in that trait can be attributed to differences in genetic make up.

    Does not imply that environment is unimportant
  3. c Expansion of noncoding repeats/NOVEL function

    RNA has novel poperty binds RNA binding protien and sequesters them, aff. other genes. Mut. RNA made, but mut. protein not made

    Myotonic Dys. 1/2 (AD) and FXTAS (AD)
  4. d Role of genetic/env. factors varies from individual to individual. Population "general" rules don't necessarily work at individual level
  5. e Incomplete penetrance, Variable expressivity, Allelic/Locus Heterogeneity, Phenocopies (disease mimics genetic version but it's caused for non genetic reasons--limb malformation)

5 Multiple choice questions

  1. Webbed neck, shield chest, underdeveloped breasts, and widely spread nipples, Rudimentary ovaries, Brown nevi, low hairline, short 4th metacarpal, scoliosis, pectus excavatum, prominant auricles, low set high narrow palate, small mandible

    Hear issues (bicuspid aortic valve, coartation of aorta, systemic hypertension, EKG is abnormal)

    Also lymphatics, urinary system, vision/hearing
  2. Hyp. driven
    Studies gene directly
    good for mendelian/complex
    most hyp. wrong
    have to apply bonferroni correction

    can look for variations in candidate gene tagged by nearby markers between cases and controls

    Must match
    Watch out for stratification (leads to false positives)
  3. One inactive X, all females are mosaics and X inactivation occurs regardless of the total number of Xs/Ys present
  4. gene mutations alter regulatory regions and alter timing or location of expression

    Cancer oncogenes
    Hereditary Persistance of Fetal Hemoglobin
  5. compare Mz and Dz twins. If there is increased correlation or concordance for MZ vs. DZ twins, genetics plays more of a role than environment. Same with correlation

5 True/False questions

  1. 47, XYY 1/900-1/1000Normal Males, taller than expected


  2. Post translational modificationX linked
    Androgen Insensitvity Syndrome


  3. .WolffianParamesonephros


  4. IntersexParamesonephros


  5. TranscriptionSlipped mispairing of repeat sequences results in change in stability and expansion of repeats

    Increasing repeats increases disease severity

    **Anticipation is the clinical obs. of disease severity worsening in subsequent generations