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5 Written questions

5 Matching questions

  1. LOF
  2. Intersex
  3. Assemly of monomers into holomeric protein
  4. .Wolffian
  5. What are examples of diseases that have multifactorial inheritance
  1. a 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
  2. b Mesonephros
  3. c Both ovarian and testicular tissue present (XX, XY mosaics)
  4. d Types of OI impairs assembly of normal collagen triple helix
  5. e Diabetes, Alzheimers, Cleft lip and Cleft palate

5 Multiple choice questions

  1. SF1 and SRY activate Sox 9 which maintains itself

    DAX 1 also important
  2. Normal Males, taller than expected
  3. Increase linkage means decrease crossover and genes are very close

    Decrease linkage means increase crossover and genes are very far
  4. gene mutations alter regulatory regions and alter timing or location of expression

    Cancer oncogenes
    Hereditary Persistance of Fetal Hemoglobin
  5. 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

5 True/False questions

  1. Post translational modificationI cell disease (lysosomal storage disease due to failure to add a phs. group to mannose res. of lys. enzyme)


  2. Phenotype of Angelman's SyndromeMild hypotonia which turns to spasticity, increased intellectual disabilities compared to PWS, autism, seizures, No feeding or obesity issues, prominent chin, seen in couples who turn to ART


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


  4. Candidate Gene StudyHyp. 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


  5. Peptide foldingAmount of total variation that is due to genes. If something has heritability it means that differences among individuals in that trait can be attributed to differences in genetic make up.

    Does not imply that environment is unimportant