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27 Cards in this Set
- Front
- Back
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What are some chromosomal abnormalities
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Trisomy, monosomy, deletions, duplications, inversion, translocation
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Euploid vs. Aneuploid
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Euploid: multiple on N
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How many human pairs of chromosomes?
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23 pairs = 46 individual
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Trisomy 21 + Symptoms?
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Down Syndrome
Upward eye slant, adolescent, single palmar crease, brushfield spots |
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45, X
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Turner Syndrome
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47, XY+13
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Patau Syndrome
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Translocation. Balanced vs. Unbalanced
Philadelphia -> what disease? |
Robertsonian translocation. Balanced-no change in genetic material.
Philadelphila - 22>9, CML |
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Linkage disequilibirum
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Nonrandom association of alleles at two or more loci. (Not same as linkage)
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What does southern blot separate?
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DNA sorted by length
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What does northern blot separate?
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mRNA transcript by length
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What does western blot separate?
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Amino acid by length
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What does cyclosporin do?
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Repress immune system by inhibiting calcineurin, which stops transcription of IL-2.
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What is difference between equilibrium potential and membrane potential?
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Equilibrium potential looks at one ion in cells. Membrane potential is the voltage across entire cell.
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If the K+ equilibrium potential is -90mV, and the cell is at -110mV, which way will current flow?
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INSIDE!
Ik = gk(Vm-Ek) |
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Positive current
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Positive charges flow OUT of cell
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If the K+ equilibrium potential is -90mV, and the cell is at -10mV, which way will current flow?
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OUT!
Ik = gk(Vm-Ek) |
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What is normal pathway from TCR binding to cytokine production? What cytokines are produced?
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APC/TCR interaction -> Tyrosine Kinase -> Phospholipase C -> IP3 -> Calcium depletion of ER -> Stim binds to Orai1 to open CRAC that allows Ca+ to enter into cell -> Ca activates Calcineurin/CaM/NFAT to produce IL-2 and IFN-g.
At the same time, K+ channels are activated both by voltage gated channels and ligands to help the electrical balance to allow more Ca+ to enter. |
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4 types of DNA mutation
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Insertion, Deletion, Subtitution
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Nonsense
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Stop codon
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Missense
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Wrong amino acids
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Give properties of FSH
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Peak at the first half of the cycle. Helps follicles mature
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LH
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Helps corpus luteum proliferate. Peaks right before ovulation.
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What does corpus luteum secrete?
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Progesterone. Stimulates endometrial proliferation and allows uterine wall to sustain implantation.
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What does follicle secrete?
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Estrogen
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What does implanted embryo secrete?
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hCG that helps corpus luteum survive.
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What does Nrf2-Keap do?
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Detects ROS in the cell. Continuous ubiquination of the complex. If ROS is there, it liberates Nrf2 to transcribe antioxidant enzymes, GSH, anti-inflammatory
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HIF?
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Also continuous ubiquination. Hypoxia indicible factor- Detects when there is no oxygen. Upregulates genes to start angiogenesis, glycolysis, erythropoesis, maybe cell death
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