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5 Written questions

5 Matching questions

  1. Urethral fold
  2. What are sources of genetic variability
  3. Sex Reversal: XY females
  4. Subcellular localization of Polypeptide
  5. Exome/Genome Sequencing
  1. a Mutation, Chromosomal Sorting, Meiotic Recombination, Imprinting
  2. b have female internal/external sexual organs--gonadal sex is opposite the karyotype
    del. of SRY
    SOX 9 (Campopelic Dysplasia)
    WT (Frasier Syndrome)
  3. c Familial Hypercholesterolemia (mut. in LDL receptor impairs localization of rec. preventing internalization/recycling)
  4. d Penis around penile urethera, labia minora
  5. e Both Hyp. Free and Driven

    Genomic DNA---hybridize various sequences to probes---shot gun library--DNA sequencing---mapping/alignment/variant cloning

    Lots of genomic noise, but cheap, distinguishes causal var. from non path. var.

5 Multiple choice questions

  1. Diabetes, Alzheimers, Cleft lip and Cleft palate
  2. Using LOD scores (Likelihood of data if loci are linked at ___cM)/ (likelihood of data if unlinked)

    can add across family, higher LOD means more likely they are linked (3 is signficant for Mendelian, and 3.3 for Polygenic)
  3. Microsatellites
    Copy Number Variations
  4. Hyp. Free
    Studies genes indirectly
    Search genome for segments disproportionately co-inherited
    Assumes aff. relatives share disease
    Discovers new, unknown genes
    Provides fine localization
    Good for Mendelian traits
  5. Both ovarian and testicular tissue present (XX, XY mosaics)

5 True/False questions

  1. Medical Issues with PWS?Strabismus, nystagmus, sleep apnea, mild to moderate cognitive disabilities and behavioral issues common, scoliosis


  2. How does SRY activate transcription?SRY activates TF (HMG DNA binding protein) which opens chromsome for transcription


  3. What is the phenotype of Turner's SyndromeWebbed 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


  4. How can you test for Down's SyndromeKaryotype/FISH


  5. Types of Expansion Repeats Class IIExpansion of noncoding repeats/LOF

    Impairs transcription such that nrml RNA/protein not made

    Frgile X (X linked) and Freidrich Ataxia (AR)


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