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5 Written questions

5 Matching questions

  1. Phenotype of PWS?
  2. Peptide folding
  3. Testicular Feminization
  4. How is an X/autosomal translocation diagnosed
  5. Deletions on Chromosome 15
  1. a Hypotonic, Almond eyes, feeding problems initially which reverse in toddler years, lighter pigmentation, undescended testicles
  2. b Hemoglobinopathies (unstable blobins degraded) Hglobin Hammersmith
  3. c X linked
    Androgen Insensitvity Syndrome
  4. d She has a X linked recessive disease (because she shouldn't be expressing that unless she has to abnormal Xs to choose from---it also means ALL her cells are inactivating the same X)

    can also diagnose with methylation pattern
  5. e Maternal deletion of 15q11-q13 or paternal uniparental disomy, imprinting error, mutation in UBE3A can result in Angelman's Syndrome

5 Multiple choice questions

  1. AR
    cholesterol synthesis disorder
    Testosterone synthesis is decreased in males
  2. missense mutation confers new property without changing normal function

    Sickle Cell Anemia--Glu6Val transp. 02 normally but also pol. under low 02 conditions

    Huntingtons expansion of CAG causs increase in glut. residues which causes huntington protein to be Toxic
  3. Microsatellites
    Copy Number Variations
  4. Klinfelter's
    gonadal dysgenesis
    decreased testosterone, failed maturation of spermatogonia, tall, gynecomastia, increased impulsive behavior
  5. speeds evolution, contributes to survivial of species by increasing genetic variability, protects and preserves species

5 True/False questions

  1. What are Medical Problems associated with DSMissing genetic information from chrom. 15 q11-q13 of paternal chromosome. Can also result from maternal uniparental disomy.


  2. Interstitial duplication on Chromosome 15Extra marker chromsome, results in hypotonia, autism, siezures


  3. Candidate Gene StudyHyp. 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)


  4. How do you statistically assess association?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)


  5. GWAStests many SNPs across genome,
    Still need to match cases/controls
    Easy to perfrom multiple testing correction
    Need more controls
    Need to confirm each significant hit individually