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5 Written Questions

5 Matching Questions

  1. Congenital Adrenal Hyperplasia
  2. What are characteristics of complex traits
  3. Sex Reversal: XY females
  4. Kallman Syndrome
  5. Linkage between Autism and
  1. a have female internal/external sexual organs--gonadal sex is opposite the karyotype
    del. of SRY
    SOX 9 (Campopelic Dysplasia)
    WT (Frasier Syndrome)
  2. b Incomplete penetrance, Variable expressivity, Allelic/Locus Heterogeneity, Phenocopies (disease mimics genetic version but it's caused for non genetic reasons--limb malformation)
  3. c AR and X linked
    hypothalamic maldevelopment
    Gonadotropin deficiency, hypgenitalism
  4. d SNPs on GABA locus of chromsome 15
  5. e AR
    Decreased cortisol synthesis and increased androgen synthesis

    Create ambiguous genitalia, masculinization of females

5 Multiple Choice Questions

  1. Types of OI impairs assembly of normal collagen triple helix
  2. ORs, p values, X squared and Fisher tests
  3. 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
  4. 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. Mild 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

5 True/False Questions

  1. What other chromosomes are implicated in creating the male sex (which, when mutated, can cause sex reversal)?Error of NDJ (Trisomy 21, mosaic DS, Translocation between chrom 21 and 14)


  2. 3 most commonly used types of DNA polymorphismsMethylation testing (abnml would see only Maternal meth. patterns) and FISH to confirm


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


  4. 5 Alpha Reductase DeficiencyAmount 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


  5. TranscriptionThalassemia due to non functional/rapidly degrading mRNAs with nonsense/frameshift mutations


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