What Lecture was that?
Genetics
membrane Potential
Oh, that was in a DLA?
Cells
100
Patient enters the ER with liver and kidney failure. Patients sister reports that the patient began to feel ill after consuming mushrooms a few days ago. What did the patient ingest and what is its mechanism?
Phalloidin, a toxin found in Amanita phalloides
Disrupts normal function of actin
Binds F-actin more tightly and G-actin
Promotes excessive polymerization and inhibits depolymerization
Inhibits cell movement
100
explain each and give their mode of inheritance:
Marfan Syndrome
SCID
NF-1
Familial Hypercholesterolemia
Lecture 13
100
What is the major ion during repolarization?
Potassium
100
This is major protein in a hemidesmosome?
What is Integrin
100
Explain the stages in Mitosis.
1. Prophase 2. Prometaphase 3. Metaphase 4. Anaphase 5. Telophase
DLA cell cycle
200
Which line represents the presence of a competitive inhibitor?
C: increase in Km
200
Explain the error and clinical presentation in Prader-Willi and Angelman syndrome.
Prader-willi: children have two active copies of UBE3A and NO active copies of SNRPN gene. Children are usually obese, have mental and developmental delay and underdeveloped genitalia
Angelman: Uniparental disomy of paternal chromosome 15 (two copies of active SNRPN and absence of UBE3A gene)."happy puppet syndrome.
200
List the key ion species and their typical concentrations
Sodium IN. 14 EXT. 140
Potassium 120 5
Calcium 0.0001 2
Chloride 8 100
200
What are your catecholamines and what are they formed from?
NE, E and Dopamine
Formed from Tyrosine
DLA for lecture 16
200
Describe the structure of a chromosome and their importance (3 components).
Centromere:Constricted region that holds sister chromatids together; Also the site of kinetochore formation
Telomere: Repeated sequences that allow the ends of the chromosome to be replicated (cancer and aging)
Replication origin:location where DNA replication begins
300
A sample of freshly harvested RBCs are added to solution X; initially, it is observed that the RBCs initially do not change in size or appearance but eventually, the cells are noted to swell significantly before eventually exploding. What is the tonicity and osmolarity?
Solution X is isoosmotic and hypotonic
300
List 4 triplet disorders, their locations and repeats.
– At the promoter region of the gene, resulting in reduced expression of the gene (CGG repeat in Fragile X syndrome)
– In an intron, resulting in formation of heterochromatin; GAA (Friedrich ataxia)
– In the coding region of the gene, resulting in a polyglutamine expansion in the protein (Huntington disease: CAG codes for glutamine)
– At the 3’ end (3’ UTR) of the gene; CTG (myotonic dystrophy)
300
During Depolarization, which ion has the strongest conduction and why?
Sodium because at this point in time, the action potential is closer to sodiums equilibrium. Potassium would have the slowest conduction during this phase.
300
List the steps of Polymerase Chain reaction (DLA)
1. DNA polymerase: an enzyme which synthesizes new strand of DNA complementary to an existing single strand of DNA or RNA template in the 5’→3’ direction but requires a short, double stranded region with a free 3’ hydroxyl end for the enzyme to add the new nucleotide
2. Primers: 2 short, synthetic oligonucleotides designed to bind the top and bottom strand of the target DNA template, typically ~20 bp which PRIMES DNA synthesis, in excess so they will preferentially bind to the denatured DNA template
3. Deoxynucleoside triphosphates (dNTPs): dATP (adenine), dCTP (cytosine), dGTP (guanosine), & dTTP (thymine) are incorporated into the growing DNA strand
4. Magnesium chloride: cofactor required for DNA polymerase activity
5. Buffer: to ensure reaction conditions remain stable 6. DNA: material to act as a complementary template for new DNA synthesis
300
What is the function of peroxisomes? give an example of a peroxisomal disease
• Important role in fat metabolism ;Very long chain fatty acid (VLCFA) beta-oxidation
• Zellweger Syndrome
Causes : Mutations in genes required for peroxisome function ; Defective import of peroxisomal proteins
400
A 10 year old girl is examined by her pediatrician and the physician immediately suspects that the patient is suffering from Fragile-X syndrome. Being an SGU alumnus, she accurately orders which molecular analysis to confirm her differential diagnosis of Fragile-X?
Southern blot with electrophoresis
400
A 3-year-old baby boy presents to the ER for evaluation of pneumonia. The patient’s mother states that this is the 4th time that her son was diagnosed with pneumonia. 2 of the previous times required hospitalization. Laboratory studies showed low levels of of B-cells and T-cells. The patient was referred over to a geneticist who suspects SCIDs. The geneticist explains to the patient’s parents that a genetic test is needed to determine which chromosome the mutation is on. This is an example of which of the following?
Locus Heterogeneity
400
Explain the Refractory Periods and what they consist of.
• Absolute refractory period: during repolarization phase when inactivation gates are closed ;no new AP can be initiated or conducted because NaV channels are blocked
Relative refractory period : after absolute refractory period during afterhyperpolarization phase ; starts when the NaV inactivation gates are open again ; APs initiation is inhibited due to after hyperpolarization (increased K+ conductance) ; but principally APs can again be initiated since NaV channels have reset (inactivation gates open)
400
The three types of intercellular signals. List examples of each
Endocrine: hormones (insulin, glucagon, epi, steroids, and peptide homones)
Autocrine: Eicosanoids and growth factors
Paracrine: Neurotrasmitters, some growth factors, Eicosanoids, and NO
400
Name the 3 DNA damage checkpoints and their components.
G1
p53 activation; p21 activation ; Cdk inhibitor ;Stop cell cycle progression •
S
Breast cancer susceptibility gene 1 (BRCA1) activation ;Repair of double-strand DNA breaks
G2
Cdc25C inactivation by ATM/ATR
500
500
Which of the following is the corresponding RNA sequence of the DNA sequence GGACGTATCCTGGAC?
5’GGUCGUAUCCUGGAC
500
Explain the following errors in cell division:
Aneuploidy
Polyploidy
Deletion
Translocation
Inversion
Chromosome duplication
DLA cell cycle regulation
Very last slide