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5 Written questions

5 Matching questions

  1. Types of Expansion Repeats Class I
  2. Deletions on Chromosome 15
  3. Candidate Gene Study
  4. What are strategies used to determine relative importance of genetic vs. non genetic factors?
  5. Interstitial duplication on Chromosome 15
  1. a maternally inherited, hypotonic, autism, siezures (people with duplication of paternal part are normal)
  2. b 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)
  3. c Maternal deletion of 15q11-q13 or paternal uniparental disomy, imprinting error, mutation in UBE3A can result in Angelman's Syndrome
  4. d Expansion of noncoding repeats/LOF

    Impairs transcription such that nrml RNA/protein not made

    Frgile X (X linked) and Freidrich Ataxia (AR)
  5. e Family, Immigration and Twin Studies

    MZ twins are genetically identical, DZ twins share 1/2 DNA

5 Multiple choice questions

  1. intellectual abilities in mild to moderate change, increased risk of autism, increased incidence of depression/Alzheimers
  2. Testicular Feminization, Congential Adrenal Hyperplasia, 5alpha reductase deficiency, Leydig Cell Hypoplasia, Smith Lemli Optiz, Kallman
  3. Infertility, Stature, Sexual Dev. Concerns regarding health and aging
  4. have female internal/external sexual organs--gonadal sex is opposite the karyotype
    del. of SRY
    SOX 9 (Campopelic Dysplasia)
    WT (Frasier Syndrome)
    DAXI (DSSR)
  5. Mutation, Chromosomal Sorting, Meiotic Recombination, Imprinting

5 True/False questions

  1. GWASmissense, 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

          

  2. Genital tubercleglans/shaft of penis, glans/shaft of clitoris

          

  3. 45X--1/2000-5000Normal Males, taller than expected

          

  4. .Wolffianmissense, 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. What are the chrom. abn. associated with PWSMissing genetic information from chrom. 15 q11-q13 of paternal chromosome. Can also result from maternal uniparental disomy.