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5 Written Questions

5 Matching Questions

  1. How can you test for Down's Syndrome
  2. How does X chromsomal inactivation work?
  3. What are sources of genetic variability
  4. Types of Expansion Repeats Class II
  5. 3 most commonly used types of DNA polymorphisms
  1. a Mutation, Chromosomal Sorting, Meiotic Recombination, Imprinting
  2. b XIST gene is expressed on inactive X
    Encodes non coding RNA
    XIST gene and RNA associate together
    DnA methilation/modification of chrom. leads to inactivation
  3. c Microsatellites
    Copy Number Variations
  4. d Karyotype/FISH
  5. e Expansion 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)

5 Multiple Choice Questions

  1. 1. Sex independent pregonadal stage (migrate to gonads)
    2. Gonadal stage (develop and mature)
  2. 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. depends on diff. of brain and culturally dependent behavioral programming
  4. Hglobin Kempsey
    impaired subunit interaction locks it in a high 02 state
  5. deletions, insertions, rearrangements that eliminate or reduce the function of the protein

    DMD, Thalassemia, Turner, Hereditary Rboma,HNPP, OI 1, Metabolic and Protein Function diseases

5 True/False Questions

  1. Interstitial duplication on Chromosome 15Maternal deletion of 15q11-q13 or paternal uniparental disomy, imprinting error, mutation in UBE3A can result in Angelman's Syndrome


  2. How is an X/autosomal translocation diagnosedShe 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


  3. IntersexParamesonephros


  4. What are characteristics of complex traitsMutation, Chromosomal Sorting, Meiotic Recombination, Imprinting


  5. What are pitfalls of the medical culture in dealing with patients with TSNot being informative, compassionate, sensitive, attentive, empathetic, presenting positive outlook


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