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5 Written questions

5 Matching questions

  1. Deletions on Chromosome 15
  2. Candidate Gene Study
  3. GOF
  4. Describe genetic regulation of sexual differentiation
  5. Translation
  1. a 1. establish genetic sex through presence of X or Y chromsome

    2. Formation of sex specific gonads

    3. Development of internal/external reproductive organs
  2. b Thalassemia due to non functional/rapidly degrading mRNAs with nonsense/frameshift mutations
  3. c Maternal deletion of 15q11-q13 or paternal uniparental disomy, imprinting error, mutation in UBE3A can result in Angelman's Syndrome
  4. d 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. e missense, promoter mutations that ENHANCE normal function

    increased normal enzymatic activity, increased normal phosphorylation activity

    Ex. Hgbln Kempsey (B globin Asp99Asn) makes it have higher 02 affinity, less able to unload 02

    Achondroplasia (FGFR Gly380Arg) increase in signaling of RTK so it is constitutively on

    Alzheimers due to Trisomy 21 (extra chrom. 21 means increased production of SOD1 protein)

    Charcot Marie Tooth Disease (duplication of PMPP)

    Usually AD since one mutation is suff. to cause disease

5 Multiple choice questions

  1. 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
  2. I cell disease (lysosomal storage disease due to failure to add a phs. group to mannose res. of lys. enzyme)
  3. Increased distance/unlinked-ness
  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. Homocystinuria due to poor binding of cofactor to cyst. synthase apoenzyme

5 True/False questions

  1. Types of Expansion Repeats Class IIIExpansion 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)


  2. Ectopic/Heterochronic Exp. Mutationsgene mutations alter regulatory regions and alter timing or location of expression

    Cancer oncogenes
    Hereditary Persistance of Fetal Hemoglobin


  3. 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


  4. What are the chrom. abn. associated with PWSSF1 and SRY activate Sox 9 which maintains itself

    DAX 1 also important


  5. Labioscrotal foldScrotum, Labia majora


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