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General Review
General Principles
| Question | Answer |
|---|---|
| What is Pleiotropy? | Multiple phenotypic manifestations resulting from a single genetic mutation |
| What is Locus heterogeneity? | Ability of 1 disease or trait to be caused by mutations in multiple and different genes |
| What is a common illness the shows Locus heterogeneity? | Familial Hypercholesterolemia |
| Why is Familial hypercholesterolemia an example of heterogeneity? | The disease is caused by mutation in the Apo B-100 or in LDL receptor, both leading to same condition |
| What is Polyploidy? | The presence of 2 complete sets of homologous chromosomes exist within an organism or cell |
| What is a common example of a condition exhibiting Polyploidy? | Hydatidiform male |
| What is Cytochrome C? | Mitochondrial enzyme that activates caspases and indirectly brings about the cell death through the intrinsic pathway of apoptosis |
| Is Cytochrome C involved in the extrinsic or intrinsic pathway of apoptosis? | Intrinsic |
| What is directly activated by Cytochrome C? | Caspases |
| Which phase of Apoptosis is identified by caspases been activated? | Initiation phase |
| What activates the Extrinsic pathway of Apoptosis? | Fas and TNF |
| Are TNF and Fas involved in the Extrinsic or Intrinsic pathway of apoptosis? | Extrinsic |
| Which pathway is described by Fas combining with lignand and creating FADD leading to caspase activation? | Extrinsic pathway of Apoptosis |
| What enzyme (protein) is known to cause increased mitochondrial permeability to pro-apoptotic substances? | Cytochrome C |
| What substrate is detected by a Northern blot? | RNA |
| What type of probe is used in Northern and Southern blotting techniques? | ss-RNA or DNA (hybridization probe) |
| What substrate is identified by Southern blotting technique? | DNA |
| What is detected by a Western blot? | Protein |
| What is the probe used in a Western blot? | Antibody |
| What is the probe used in a Southwestern blot? | ds-DNA |
| What is detected by a Southwestern blot technique? | DNA-binding protein |
| Southwestern blots are used for? | Identify and isolate proteins that bind DNA |
| What are common DNA-binding proteins? | c-Jun and c-Fos |
| What is "Ras"? | Proto-oncogene that codes for membrane bound G-protein |
| What is activated by "Ras"? | MAP kinase pathway and ultimately affecting transcription |
| Does Ras bind to DNA? | It does not |
| What is "Imprinting"? | Phenomenon in which an offspring's genes are expressed in a parent-specific manner |
| What biochemical process causes imprinting? | DNA methylation |
| DNA methylation is involved in which genetic process? | Imprinting |
| What is DNA methylation? | Epigenetic process in which genes can by silenced by attaching methyl groups to cytosine in the DNA molecule |
| To which nucleotide are methyl groups attached in DNA methylation? | Cytosine |
| What is the MC methyl donor? | SAM (S-adenosyl-methionine) |
| If a gene is imprinted it means: | It is "inactivated" by methylation, so ONLY THE OTHER parent's gene is expressed |
| If a paternal gene is imprinted then the child will exhibit: | Only the maternal gene |
| What types of transportation are included in Carried-mediated transport? | 1. Facilitated diffusion 2. Active transport |
| What is needed in order to have a carrier-mediated transport? | Carrier protein |
| Which type of transport/diffusion becomes saturated the fastest, Carried-mediated or Simple-diffusion? | Carrier-mediated transport |
| On a graph, which would have a similar slope to 1/1, carrier-mediated or simple diffusion? | Simple diffusion |
| What is the name for vitamin B6? | Pyridoxine |
| What is the chemical function of vitamin B6? | Serves as a cofactor in amino acid Transamination and Decarboxylation reactions |
| Which water soluble vitamin is known to be a cofactor in amino acid transamination and decarboxylation raction? | Pyridoxine |
| What "acids" are involved in a Transamination reaction? | Occurs between an AMINO acid and an alpha-keto acid |
| What are some common alpha-keto acids? | 1. Pyruvic acid 2. Oxaloacetic acid (component in Krebs cycle) 3. a-ketoglutarate (derived from glutamic acid) |
| What biochemical process metabolizes INH? | Acetylation |
| What is the typical distribution on people in regards to INH metabolization? | Bimodal distribution |
| Which drug is said to have either "fast" or "slow" acetylator properties? | Isoniazid |
| Which person, a slow or fast, Isoniazid acetylator is more likely to develop INH adverse effects? | Slow isoniazid acetylator |
| Which drugs are seen to undergo Methylation? | Azathioprine and 6-MP |
| What biochemical process is seen with Bilirubin? | Glucuronidation |
| What type of enzymes are seen to undergo hydrolysis? | Esterase and Amidase |
| What is the definition of Volume of Distribution (Vd)? | Hypothetical volume of fluid into which the administered amount of drug would need to be uniformly distributed to product the observed plasma concentration |
| Amount of drug given (mg) -------------------------------------------------------- = Plasma concentration of drug (mg/L) | Volume of Distribution (Vd) |
| How many liters would indicate a low Vd? | 3-5 liters |
| What are some characteristics for a low Vd in a drug? | 1. Large molecular weight 2. Bound extensively to plasma proteins 3. Highly hydrophilic (highly charged) |
| What is the approximate amount (liters L) of an intermediate Vd? | 14-16 L |
| What would be a high Vd in liters? | 41 L |
| What are characteristics of a drug with a high Vd? | 1. Small molecular weight 2. Uncharged (hydrophobic or lipophilic) 3. Highly bound to tissues |
| If a drug is lipophilic or hydrophobic, it most likely will have a low or high Vd? | High Vd |
| In which organ are the CYP450 enzymes found? | Liver |
| What are Polymorphisms? | Genes coding for CYP450 enzymes that result in various phenotypes that differ in their rates of metabolism |
| What is lab measurement is elevated by increase concentration of acute phase reactants? | ESR |
| What is ESR? | Non-specific marker for inflammation |
| What are some common acute phase reactants? | C-reactive protein, and fibrinogen |
| What mediates the release of Acute phase reactants? | IL-1, IL-6, and TNF-alpha |
| What are some pro-inflammatory cytokines? | IL-2, IL-6, and TNF-alpha |
| What type of metabolism are oral drugs likely to have? | First-pass metabolism |
| What is Bioavailability of a drug? | Fraction of administered drug that reaches the systemic circulation unchanged |
| A high bioavailability of a drug means? | That large number of the drug has reached the systemic circulation and less has gone to the liver |
| What allow the synchronization of skeletal muscle contraction? | Release of sarcoplasmic calcium following neuromuscular depolarization |
| What does increased intracellular calcium cause in skeletal muscle? | Activation of Phosphorylase kinase --> stimulation of glycogen phosphorylase to increase glycogenolysis |
| Ultimately, which metabolic process is stimulated by increased intracellular calcium in skeletal muscle? | Glycogenolysis |
| What is the most common cause of Down syndrome? | Meiotic nondisjunction |
| What is Superoxide dismutase? | Anti-oxidant; neutralizes ROS, thus, preventing cell injury |
| What is the result when the the capacities of the antioxidants is overcomes by the number of oxidants? | Cell damage and cell death |
| What are the most common receptors targeted by 1st generation anti-histamines? | Muscarinic receptors |
| What are some anticholinergic overdose effects? | Fever, flushing, mydriasis, urinary retention, tachycardia, and altered mental status |
| What is the most common 1st generation antihistamine drug? | Diphenhydramine |
| What generation of antihistamine is diphenhydramine? | 1st generation |
| What is causes mydriasis due to anticholinergic toxicity? | Paralysis of ciliary muscle and sphincter |
| What is there result of decreased vagal tone: tachycardia or bradycardia? | Tachycardia |
| What is the result in physiology in a decreased Detrusor contractions and decreased urethral sphincter relaxation? | Urinary retention |
| What are the 3 most common fates of Pyruvate? | 1. Lactic acid by Lactate dehydrogenase 2. Oxaloacetate by Pyruvate carboxylase 3. TCA cycle, by Pyruvate dehydrogenase |
| Which is the anaerobic pathway of Pyruvate metabolism? | Formation of Lactic acidosis by Lactate dehydrogenase |
| If Pyruvate is metabolized by Pyruvate carboxylase, it will give rise to: | Oxaloacetate |
| What metabolic process includes Pyruvate conversion into Oxaloacetate by Pyruvate carboxylase? | Gluconeogenesis |
| Pyruvate + Pyruvate dehydrogenase -----> _________________. | Acetyl-CoA |
| What is the aerobic pathway (fate) of Pyruvate metabolism? | Conversion iron Acetyl-CoA by Pyruvate dehydrogenase |
| What type of shift is produced by a Competitive Antagonist? | Right-shift |
| Where is mtDNA mostly found? | Most common non-nuclear DNA in eurkaryotic cells |
| Resembles prokaryotic DNA and is maternally derived. | Mitochondrial DNA (mtDNA) |
| What is the pathway medial leg lymphatics? | Bypasses the popliteal nodes, and directly empties into superficial inguinal nodes |
| Lateral tract --> Popliteal nodes --> Deep inguinal nodes | Lateral leg lymphatic drainage |
| Medial or Lateral Lower extremity lymph node drainage bypasses the Popliteal nodes? | Medial Leg lymphatics |
Created by:
rakomi
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