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5 Written questions

5 Matching questions

  1. How do you test for PWS?
  2. 10-15% of genes
  3. Novel Property (uncommon)
  4. What other chromosomes are implicated in creating the male sex (which, when mutated, can cause sex reversal)?
  5. Cells in normal females have
  1. a escape inactivation on Xp
  2. b One inactive X, all females are mosaics and X inactivation occurs regardless of the total number of Xs/Ys present
  3. c Chromsomes 9 (SF1), 11(WT gene---diff. of mesoneph, Wolffian ducts), 17(Sox 9)
  4. d Methylation testing (abnml would see only Maternal meth. patterns) and FISH to confirm
  5. e missense mutation confers new property without changing normal function

    Sickle Cell Anemia--Glu6Val transp. 02 normally but also pol. under low 02 conditions

    Huntingtons expansion of CAG causs increase in glut. residues which causes huntington protein to be Toxic

5 Multiple choice questions

  1. Homocystinuria due to poor binding of cofactor to cyst. synthase apoenzyme
  2. Scrotum, Labia majora
  3. Familial Hypercholesterolemia (mut. in LDL receptor impairs localization of rec. preventing internalization/recycling)
  4. 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
  5. Hglobin Kempsey
    impaired subunit interaction locks it in a high 02 state

5 True/False questions

  1. Phenotype of PWS?escape inactivation on Xp


  2. Def. Urogenitaltests 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


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

    Cancer oncogenes
    Hereditary Persistance of Fetal Hemoglobin


  4. Why is sexual reproduction biologically advantageousspeeds evolution, contributes to survivial of species by increasing genetic variability, protects and preserves species


  5. TranscriptionThalassemias (decrease transcription) and HPFH (increases transcription)


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