Core Exam 1

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  1. FISH
    Purpose: identification of distinct DNA segments 

    Probe can bind to one or several specific DNA regions
  2. Spectral karyotyping
    Purpose: analysis of entire genome and detection of unique chromosomes 
  3. Flow cytometry 
    Purpose: Isolationg if individul chromosomes 
  4. Autosomal deletion syndrome
    Visible, large deletion that affects part of chromosome 

    • Causes:
    • 1. de novo mutations in fetal development or gamete formation 

    2. haploinsufficiency
  5. Haploinsufficiency
    Single remaining copy of gene in mutated pair is unable to deliver normal, healthy phenotype
  6. Contiguous gene syndrome
    Small deletion of chromosome ; contiguous genes located next to each other 

    • Cause: 
    • 1. Haploinsufficiency 
    • 2. de novo mutations in gamete formation or during fetal development
  7. How does the binding of a transcriptional activating factor to its enhancer element activate transcription at the promoter?
    • 1. Binding of transcriptional activator to enhancer 
    • 2. Recruitment of coactivators 
    • 3. Altering chromatin structure by modifying histone tailes - makes chromatin more accessible 
    • 4. Recruitment of RNA polymerase II & associated transcription factors
  8. Steroid/hyroid hormones mech. of action
    • 1. Bind cytosolic or nuclear membrane receptor 
    • 2. Conformational change in receptor = activation 
    • 3. Activated receptor binds HRE enhancer element at promoter of target gene 
    • 4. Recruitment of coactivators etc. 
    • 5. Transcription of target gene
  9. Facilitated diffusion transporters

    Display enzyme kinetics : high [substrate] will saturate transport proteins
  10. Cardiac glycosides
    Inhibit Na+/K+ ATPase 

    Digitalis & Ouabin 

    Used for congestive heart failure
  11. Electrogenic
    Example: Na+/K+ ATPase 

    Something that acts to maintain a negative or positive resting membrane potential 

    Prevents compartments from equilibrating
  12. Amiloride
    Inhibitor of NaCl reabsorption into epithelial cells 

    Can be used as treatment for C
  13. Furosemide
    Inhibitor of Na/K/Cl symport
  14. DIDS
    Inhibitor of Cl/HCO3- antiport 
  15. What are 2 mechanisms that allow for the regulation of trasporting small molecules/ions
    1. Hormones/NTs/Drugs - binding eventually influences channels via synthesis or phorphorylation/dephosphorylation 

    2. Regulation of number of proteins channels - demand determines supply
  16. Liddle's syndrome
    Defective regulation of compensation for acute increases in BP removal of Na+/H+ antiporters 

    Can contribute to hypertension
Card Set:
Core Exam 1
2012-09-14 09:20:15

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