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5 Written questions

5 Matching questions

  1. GOF
  2. Phenotype of PWS?
  3. What are strategies used to determine relative importance of genetic vs. non genetic factors?
  4. How is an X/autosomal translocation diagnosed
  5. Intersex
  1. a Both ovarian and testicular tissue present (XX, XY mosaics)
  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 Hypotonic, Almond eyes, feeding problems initially which reverse in toddler years, lighter pigmentation, undescended testicles
  4. d 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
  5. e Family, Immigration and Twin Studies

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

5 Multiple choice questions

  1. Hemoglobinopathies (unstable blobins degraded) Hglobin Hammersmith
  2. Candidate Gene Study (Hyp. Driven) and GWAS
  3. Normal Males, taller than expected
  4. X chromsome is abnormal or there is an X;autosomal translocation
  5. AR
    Testosterone can't mature into dihydrotestosterone with incomplete phallic dev. sever hypospadias

5 True/False questions

  1. GWAStests 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. Pseudohermaphroditismabnormal devleopment of genital sex
    external phen/sex assignment is at odds with genetic (karyotype) and gonadal (internal sexual organs)

    Masculinized females (exposed to androgens during development)

    Males with underdeveloped or ambiguous genitalia (can't produce or respond to testosterone)


  3. Linkage between Autism andIncrease linkage means decrease crossover and genes are very close

    Decrease linkage means increase crossover and genes are very far


  4. Sex Reversal: XX malesgonadal sex (have male internal/external sexual organs) is opp. karyotype, translocation of Y to autosome


  5. Concordance Ratescompare Mz and Dz twins. If there is increased correlation or concordance for MZ vs. DZ twins, genetics plays more of a role than environment. Same with correlation


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