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Genetics Set 2 Test

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5 Written Questions

5 Matching Questions

  1. GOF
  2. Testicular Feminization
  3. Mullerian
  4. Linkage between Autism and
  5. Sex Reversal: XX males
  1. a Paramesonephros
  2. b 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
  3. c gonadal sex (have male internal/external sexual organs) is opp. karyotype, translocation of Y to autosome
  4. d SNPs on GABA locus of chromsome 15
  5. e X linked
    Androgen Insensitvity Syndrome

5 Multiple Choice Questions

  1. tests 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
  2. Role of genetic/env. factors varies from individual to individual. Population "general" rules don't necessarily work at individual level
  3. Chromsomes 9 (SF1), 11(WT gene---diff. of mesoneph, Wolffian ducts), 17(Sox 9)
  4. Expansion of codons in exons/NOVEL

    Mutant/novel RNA made, mutant/novel/toxic protein made

    Spinocerebellar Ataxia
  5. Expression of SRY gene (absence of SRY creates ovaries)

5 True/False Questions

  1. Why find disease genes?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


  2. Peptide foldingHypotonic, Almond eyes, feeding problems initially which reverse in toddler years, lighter pigmentation, undescended testicles


  3. Congenital Adrenal HyperplasiaAR
    Lack of testosterone production, defect involves mutation in LH receptor


  4. Assemly of monomers into holomeric proteinTypes of OI impairs assembly of normal collagen triple helix


  5. How is an X/autosomal translocation diagnosedSF1 and SRY activate Sox 9 which maintains itself

    DAX 1 also important


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