NAME

Question Types


Start With


Question Limit

of 88 available terms

Advertisement Upgrade to remove ads

5 Written Questions

5 Matching Questions

  1. Genetic Linkage Study
  2. What is Anticipation
  3. What are challenges for TS patients across lifespan
  4. Deletions on Chromosome 15
  5. When does nonrandom X inactivation occur?
  1. a Slipped 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
  2. b X chromsome is abnormal or there is an X;autosomal translocation
  3. c 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
  4. d Maternal deletion of 15q11-q13 or paternal uniparental disomy, imprinting error, mutation in UBE3A can result in Angelman's Syndrome
  5. e Infertility, Stature, Sexual Dev. Concerns regarding health and aging

5 Multiple Choice Questions

  1. Incomplete penetrance, Variable expressivity, Allelic/Locus Heterogeneity, Phenocopies (disease mimics genetic version but it's caused for non genetic reasons--limb malformation)
  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. Heart defects (endocardial cushion defects), AVC, GI defects (polyhydramnios) Hirshprungs disease, small tear ducts, eustachian tubes, frequent ear infections, small airway with increased tonsils and adenoids, strabismus, nystagmus, cataracts, myopia,hearing loss, thryoid and autoimmone problems
  4. 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)
  5. Penis around penile urethera, labia minora

5 True/False Questions

  1. 5 Alpha Reductase DeficiencyAR
    Testosterone can't mature into dihydrotestosterone with incomplete phallic dev. sever hypospadias

          

  2. Testicular FeminizationSlipped 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

          

  3. Smith Lemli OptizAR
    cholesterol synthesis disorder
    Testosterone synthesis is decreased in males

          

  4. Peptide foldingAmount 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

          

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

          

Create Set