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492 Cards in this Set
- Front
- Back
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Blot used to detect RNA
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Northern
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Blot used to detect DNA
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Southern
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Procedure used to synthesize many copies of a desired piece of DNA
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PCR
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Blot used to detect proteins
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Western
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Steps of PCR
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Denature DNA, Anneal Primers, Replicate (Heat-stable DNA Polymerase)
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ELISA
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Enzyme-linked immunosorbent assay
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FISH
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Fluorescence in situ hybridization
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Southern/Northern blots use what to probe
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DNA
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Western blots use what to probe
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Antibodies
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Cell cycle stages that can have variable duration
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G1, G0
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Site of secretory protein synthesis
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RER
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Term for RER found in neurons
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Nissl bodies
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Cells that enter G1 from G0 on stimulation
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Stable cells (hepatocytes, lymphocytes)
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Cells that remain in G0
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Permanent cells (neurons, cardiac muscle, RBCs)
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Site of steroid synthesis and detoxification
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SER
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N-linked oligosaccharide addition occurs where
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RER
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Stages of mitosis
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Prophase, metaphase, anaphase, telophase
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Cells that never enter G0, short G1, rapidly divide
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Labile cells (marrow, gut, skin, hair follicles)
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Goblet and plasma cells have a large amount of what organelle
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RER
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Coarse facial features, clouded corneas, restricted joints, often fatal in childhood
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I-cell Disease
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Organelle that adds O-oligosaccharides
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Golgi
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Organelle that <span style="text-decoration: underline;">modifies</span> N-oligosaccharides
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Golgi
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Organelle that adds mannose-6-phosphate
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Golgi
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Clathrin tag results in
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trans-Golgi -> lysosome; plasma membrane -> endosomes
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I-cell disease is a result of
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Failure of mannose-6-phosphate addition in Golgi
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Organelle that sulfates sugars
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Golgi
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COPI tag results in
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Retrograde transport (Golgi -> ER)
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Organelle that assembles proteoglycans
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Golgi
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Failure of mannose-6-phosphate addition in Golgi results in what action
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Secretion of lysosomal enzymes
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Hepatocytes and adrenal cortex cells are rich in what organelle
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SER
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COPII tag results in
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Anterograde transport (RER -> cis-Golgi)
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Microtubule polymerization defect that leads to decreased phagocytosis
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Chediak-Higashi Syndrome
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ATPase that links peripheral cilia doublets
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Dynein
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Anti-breast cancer that acts on microtubules
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Paclitaxel
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Antifungal that acts on microtubules
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Griseofulvin
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Anti-cancer agent that acts on microtubules
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Vincristine
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Kinesin is involved in what transport
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Anterograde
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Anti-gout that acts on microtubules
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Colchicine
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Used for slow axoplasmic transport
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Microtubules
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Tubulin dimers in microtubules bind what
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2 GTP
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Dynein is involved in what transport
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Retrograde
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Male/female infertility, bronchiectasis, recurrent sinusitis are seen in what syndrome
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Kartagener's Syndrome
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Anti-helminthic that acts on microtubules
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Mebendazole
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Most abundant human protein
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Collagen
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Cardaic glycosides inhibit what
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Na+/K+ ATPase
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Inhibits Na+/K+ ATPase at the K+ site
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Ouabain
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Lecithin is also known as
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Phosphatidylcholine
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Type III collagen is found where
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Reticulin
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Properties that result in increased plasma membrane melting temperature
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Incrased cholesterol or long saturated fatty acids
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Type I collagen is found where
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Bone, skin, tendon
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Phosphatidylcholine is found where
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RBC membranes, myelin, bile, surfactant
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Type II collagen is found where
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Cartilage
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Compound used in esterfication of cholesterol
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Phosphatidylcholine
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Results from abnormal collagen synthesis, has multiple fractures, blue sclerae, and hearing loss
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Osteogenesis imperfecta
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Site of preprocollagen synthesis
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RER
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First form in collagen synthesis that is insoluble
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Tropocollagen
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Ehlers-Danlos syndrome is a defect in what type of collagen
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Type III
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Third step of collagen synthesis
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Glycosylation
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Two steps of collagen synthesis following exocytosis
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Proteolytic processing (tropocollagen), crosslinking (collagen fibrils)
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Glycosylated preprocollagen forms
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Triple helix procollagen
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Second step of collagen synthesis and where it occurs
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Hydroxylation, ER
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Type IV collagen is found where
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Basement membrane
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Syndrome from faulty collagen synthesis with hyperextensible skin, easy bruising, and hypermobile joints
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Ehlers-Danlos Syndrome
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Complication associated with Ehlers-Danlos syndrome
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Berry aneurysms
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Cofactor required for hydroxylation of collagen
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Vitamin C
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Osteogenesis imperfecta is a defect in what type of collagen
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Type I
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Syndrome that is a result of a fibrillin mutation
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Marfan's Syndrome
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Elastin is rich in what amino acids
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Proline, lysine
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Desmin stains what cells/tissue
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Muscle
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GFAP stains what cells/tissue
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Neuroglia
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Vimentin stains what cells/tissue
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Connective tissue
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Enzyme that inhibits elastase
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alpha-1-antitrypsin
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Cytokeratin stains what cells/tissue
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Epithelial cells
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Neurofilaments stain what cells/tissue
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Neurons
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Location of HMP shunt
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Cytoplasm
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Biotin is required for what steps of metabolism
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Pyruvate -> Oxaloacetate (Pyruvate carboxylase), Propionyl-CoA -> Methylmalonyl-CoA (Succinyl-CoA production)
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Aerobic metabolism by G3P shuttle produces how many ATP
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36
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Location of protein synthesis
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RER
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Location of acetyl-CoA production
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Mitochondria
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Aerobic metabolism by malate shuttle produces how many ATP
|
38
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Location of fatty acid (beta) oxidation
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Mitochondria
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Location of urea cycle
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Mitochondria, Cytoplasm
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Location of Krebs cycle
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Mitochondria
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Location of steroid synthesis
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SER
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Location of FA synthesis
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Cytoplasm
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Location of heme synthesis
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Mitochondria, Cytoplasm
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Location of glycolysis
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Cytoplasm
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Location of gluconeogenesis
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Mitochondria, Cytoplasm
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Enzymes of metabolism that are irreversible
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Hexokinase/glucokinase, phosphofructokinase, pyruvate kinase, citrate synthase, a-ketoglutarate dehydrogenase
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Anaerobic metabolism produces how many net ATP
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2
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Most potent phosphofructokinase activator
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F2,6BP
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Glycolytic enzyme deficiences lead to what disease
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Hemolytic anemia
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Function of S-adenosyl-methionine (SAM)
|
Transfer methyl units
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|
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Feedback inhibition of glucokinase
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None
|
|
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Characteristics of glucokinase
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Liver, low affinity, high capacity
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Feedback inhibition of hexokinase
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Glucose-6-phosphate
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Disease from NADPH oxidase deficiency
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Chronic granulomatous disease
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HMP shunt is active in which tissues
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Lactating mammary galnds, liver, adrenal cortex
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Universal electron acceptors
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NAD, NADP, FAD
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NAD is used in (anabolic/catabolic) processes
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Catabolic
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Uses of NADPH
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Anabolic processes (Steroid/FA synthesis), respiratory burst, P450, RBC glutathione reduction
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Steps of glycolysis that require ATP
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Phosphofructokinase (F6P -> F1,6BP), Pyruvate kinase (PEP -> Pyruvate)
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Deficiencies of what glycolytic enzymes lead to hemolytic anemia
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Pyruvate kinase, glucose phosphate
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NADPH is used in (anabolic/catabolic) processes
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Anabolic
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Action of S-adenosyl-methionine (SAM) is dependent on what
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B12
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|
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Cofactors of pyruvate dehydrogenase/a-ketoglutarate dehydrogenase
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B1, B2, B3, B5, lipoic acid
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Characteristics of hexokinase
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Ubiquitous, high affinity, low capacity
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Action of arsenic
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Inhibits lipoic acid
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NADPH is a product of what pathway
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HMP shunt
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Amino acid that carries amino groups from muscle to liver
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Alanine
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Action of electron transport inhibitors
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Decreased proton gradient
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ATPase inhibitors
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Oligomycin
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Action of ATPase inhibitors
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Increased proton gradient, electron transport stops
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Rate limiting step of nonoxidative HMP shunt
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Transketolases
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Uncoupling agents
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UCP, 2,4DNP, ASA
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TCA cycle enzymes that produce NADH
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Isocitrate dehydrogenase, a-ketoglutarate dehydrogenase, malate->oxaloacetate
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TCA cycle enzymes that produce GTP
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Succinyl-CoA -> Succinate
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TCA cycle enzymes that produce FADH2
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Succinate -> Fumarate
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Irreversible enzymes in gluconeogenesis
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Pyruvate carboxylase, PEP carboxykinase, Fructose-1,6-bisphosphatase, Glucose-6-phosphatase
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ATP needed to generate glucose from pyruvate
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6
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Cofactors required for pyruvate carboxylase
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Biotin/ATP
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Electron transport inhibitors
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Rotenone, CN-, antimycin A, CO
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Pyruvate dehydrogenase deficiency is seen in what patients
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Alcoholics (B1 deficiency)
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Treatment of pyruvate dehydrogenase deficiency
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Increased lysine/leucine
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Cofactors required for PEP carboxykianse
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GTP
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Symptoms of arsenic poisoning
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Vomiting, rice water stools, garlic breath
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Action of uncoupling agents
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Decreased proton gradient, ATP production stops, ETC continues
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Gluconeogenesis enzyme deficiencies lead to what state
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Hypoglycemia
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Pathway that transfers excess reducing equivalents from RBC/muscle to liver
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Cori cycle
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Rate limiting step of oxidative HMP shunt
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G6P dehydrogenase
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Disease with tremor, slurred speech, somnolence, vomiting, cerebral edema
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Ammonia intoxication
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Disease with cataracts, hepatosplenomegaly, mental retardation; due to buildup of galactitol
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Galactosemia
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Disease with decreased available phosphate leading to hypoglycemia, jaundice, cirrhosis, and vomiting
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Fructose intolerance
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Ketogenic amino acids
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Leucine, lysine
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Basic amino acids
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Arginine, lysine, histine
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|
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Most basic amino acid
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Arginine
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Disease with bloating, cramps, and osmotic diarrhea; disease is age dependent and hereditary
|
Lactase deficiency
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Nonoxidative HMP shunt is (reversible/irreversible)
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Reversible
|
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Fructokinase defect that is benign, asymptomatic
|
Essential fructosuria
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|
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Oxidative HMP shunt is (reversible/irreversible)
|
Irreversible
|
|
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Glucogenic amino acids
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Methionine, threonine, valine, arginine, histine
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|
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Acidic amino acids
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Aspartic acid, glutamic acid
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|
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Fructose intolerance is due to what mutation
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AR deficiency of aldolase B
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|
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Nonoxidative HMP shunt is used to produce
|
Ribose-5-phosphate, G3P, F6P
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Ammonia intoxication is seen with what diseases
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Liver disease, ornithine transcarbamoylase deficiency
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G6P dehydrogenase deficiency leads to what disease
|
Hemolytic anemia
|
|
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Glucogenic/ketogenic amino acids
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Isoleucine, phenylalanine, tryptophan
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|
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Transketolases require what cofactors
|
Thiamine
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|
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Altered hemoglobin precipitates in RBCs
|
Heinz bodies
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Amino acid with no charge at body pH
|
Histidine
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Galactosemia is due to what mutation
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AR loss of galactose-1-phosphate uridyltransferase
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|
|
Galactokinase deficiency leads to
|
Galactosemia, galactosuria
|
|
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Disease with mental retardation, growth retardation, fair skin, eczema, and musty body odor
|
Phenylketonuria
|
|
|
Cystinuria is treated with
|
Acetazolamide
|
|
|
Phenylalanine derivatives
|
Thyroxine, melanin, dopamine, NE/epinephrine
|
|
|
Black urine on standing is seen with what disease
|
Alkaptonuria
|
|
|
Amino acids that can't be transported in cystinuria
|
COLA (cystine, ornithine, lysine, arginine)
|
|
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Rate limiting step in urea cycle
|
Carbamoyl phosphate synthase I
|
|
|
Congenital defect of homogentisic acid oxidase
|
Alkaptonuria
|
|
|
Tryptophan derivatives
|
Niacin, serotonin, melatonin
|
|
|
Albinism has what inheritance pattern
|
AR with variable inheritance (locus heterogeneity)
|
|
|
Pathway that degrades amino acids into amino groups
|
Urea cycle
|
|
|
AR disorder with tyrosinase deficiency or defective tyrosine transporters
|
Albinism
|
|
|
Treatment for homocystinuria with decreased enzyme affinity
|
Increased B6
|
|
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Disease due to blocked degradation of branched amino acids
|
Maple syrup urine disease
|
|
|
Homocytinuria can be caused by what three mechanisms
|
Cystathionine synthase deficiency, decreased cystathionine synthase affinity for pyridoxal phosphate, methionine synthase deficiency
|
|
|
Urea cylce steps
|
Obviously, careless, crappers are also frivolous about urination<br><br>Ornithine + carbamoyl phosphate -> citrulline -> aspartate + argininosuccinate -> fumarate and arginine -> urea and ornithine
|
|
|
Treatment of ammonia intoxication
|
Arginine
|
|
|
Disease with defect in renal tubular amino acid transport for 4 amino acids
|
Cystinuria
|
|
|
Arginine derivatives
|
Creatine, urea, nitric oxide
|
|
|
Disease with mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation, atherosclerosis
|
Homocystinuria
|
|
|
Mechanism of symptoms in ammonia intoxication
|
NH4+ depletes a-ketoglutarate
|
|
|
Alkapton bodies lead to what symptom
|
Black urine on standing
|
|
|
Glutamate derivatives
|
GABA (requires B6)
|
|
|
Glycogen storage disease with cardiomegaly and systemic findings leading to early death
|
Pompe's disease (Type II)
|
|
|
GLUT2 receptor is located in
|
B-islet cells, liver, kidney
|
|
|
Enzyme deficiency that leads to SCID
|
Adenosine deaminase deficiency
|
|
|
GLUT1 receptor is located in
|
RBCs, Brain
|
|
|
Disease with severe CNS defects, mental retardation, and death
|
Maple syrup urine disease
|
|
|
Glycogen storage disease that is a milder form of Von Gierke's (Type I) with normal blood lactate levels
|
Cori's disease (Type III)
|
|
|
GLUT receptor that is insulin responsive
|
GLUT4
|
|
|
Effect of insulin on kidney
|
Increased sodium retention
|
|
|
GLUT receptor that is bidirectional
|
GLUT2
|
|
|
End products of liver metabolism in fed state
|
Glycogen, VLDL
|
|
|
Inheritance of Lesch-Nyhan
|
X-linked recessive
|
|
|
Enzyme deficiency in maple syrup urine disease
|
a-ketoacid dehydrogenase
|
|
|
End products of liver metabolism in fasting state
|
Glucose, ketone bodies
|
|
|
GLUT4 receptor is located in
|
Adipose tissue, skeletal muscle
|
|
|
Substance that builds up in Lesch-Nyhan syndrome
|
Uric acid
|
|
|
Amino acids not degraded in maple syrup urine disease
|
Isoleucine, valine, leucine
|
|
|
Serum marker present only with endogenous insulin
|
C-peptide
|
|
|
Mechanism in adenosine deaminase deficiency
|
Increased ATP blocks ribonuclease reductase and DNA synthesis
|
|
|
Glycogen is degraded in lysosomes by
|
a-1,4-glucosidase
|
|
|
Disease caused by lack of HGPRTase
|
Lesch-Nyhan Syndrome
|
|
|
Glycogen storage disease with severe fasting hypoglycemia, increased liver glycogen, increased blood lactate, and hepatomegaly
|
Von Gierke's disease (Type I)
|
|
|
Disease with mental retardation, self-mutilation, aggression, hyperuricemia, gout, and choreoathetosis
|
Lesch-Nyhan Syndrome
|
|
|
Disease with hepatosplenomegaly, aseptic necrosis of femur, bone crises, and macrophages
|
Gaucher's disease
|
|
|
Disease with progressive neurodegeneration, hepatosplenomegaly, cherry-red spot (on macula)
|
Niemann-Pick disease
|
|
|
Deficient enzyme, accumulated substrate in Tay-Sachs disease
|
Hexosaminidase A, GM2 ganglioside
|
|
|
X-linked recessive lysosomal storage diseases
|
Fabry's disease, Hunter's syndrome
|
|
|
Glycogen storage disease with increased muscle glycogen, inability to break down muscle glycogen (cramps), and myoglobinuria with strenuous exercise
|
McArdle's disease (Type V)
|
|
|
Deficient enzyme in Cori's disease
|
Debrancing enzyme a-1,6-glucosidase
|
|
|
Deficient enzyme, accumulated substrate in Hunter's syndrome
|
Iduronate sulfatase, Heparan sulfate/dermatan sulfate
|
|
|
Deficient enzyme in Von Gierke's disease
|
Glucose-6-phosphatase
|
|
|
Deficient enzyme, accumulated substrate in Hurler's syndrome
|
a-L-iduronidase, Heparan sulfate/dermatan sulfate
|
|
|
Disease with peripheral neuropathy, developmental delay, and optic atrophy
|
Krabbe's disease
|
|
|
Deficient enzyme in Pompe's disease
|
Lysosomal a-1,4-glucosidase (acid maltase)
|
|
|
Disease with progressive neurodegeneration, developmental delay, cherry-red spot, lysozymes with onion skin
|
Tay-Sachs disease
|
|
|
Disease that is a mild form of Hurler's with aggresive behavior, but no corneal clouding
|
Hunter's syndrome
|
|
|
Enzyme deficient in McArdle's disease
|
Skeletal muscle glycogen phophorylase
|
|
|
Disease with developmental delay, gargoylism, airway obstruction, corneal clouding, and hepatosplenomegaly
|
Hurler's syndrome
|
|
|
Deficient enzyme, accumulated substrate in Gaucher's disease
|
B-glucocerebrosidase, glucocerebroside
|
|
|
Deficient enzyme, accumulated substrate in Fabry's disease
|
a-galactosidase A, Ceramide trihexoside
|
|
|
Mucopolysaccharidoses
|
Hurler's syndrome, Hunter's syndrome
|
|
|
Disease with central and periphral demyelination with ataxia and dementia
|
Metachromatic leukodystrophy
|
|
|
Deficient enzyme, accumulated substrate in Niemann-Pick disease
|
Sphingomyelinase, sphingomyelin
|
|
|
Deficient enzyme, accumulated substrate in metachromatic leukodystrophy
|
Arylsulfatase A, cerebroside sulfate
|
|
|
Deficient enzyme, accumulated substrate in Krabbe's disease
|
B-galactosidase, galactocerebroside
|
|
|
Disease with peripheral neuropathy of hands/feet, angiokeratomas, CV, and renal disease
|
Fabry's disease
|
|
|
Action of apolipoprotein E
|
Mediates remnant uptake
|
|
|
Catalyzes esterification of cholesterol
|
Lecithin-cholesterol acyltransferase (LCAT)
|
|
|
Lipoprotein that transports cholesterol from liver to tissue
|
LDL
|
|
|
In the liver, fatty acids and amino acids form
|
Acetoacetate and B-hydroxybutyrate
|
|
|
Action of apolipoprotein CII
|
Cofactor for lipoprotein lipase
|
|
|
Shuttle that moves Acyl-CoA into mitochondria in FA metabolism
|
Carnitine shuttle
|
|
|
Mediates transfer of cholesterol esters to other lipoprotein particles
|
Cholesterol ester transfer protein (CETP)
|
|
|
Action of apolipoprotein B100
|
Binds LDL receptor, mediates VLDL secretion
|
|
|
2/3 of plasma cholesterol is esterified by
|
Lecithin-cholesterol acyltransferase (LCAT)
|
|
|
Enzyme deficiency that leads to inability to utilize LCFAs and toxic accumulation
|
Carnitine deficiency
|
|
|
Ketone bodies are made from what precursor
|
HMG-CoA
|
|
|
Rate-limiting step of cholesterol synthesis
|
HMG-CoA reductase
|
|
|
Action of apolipoprotein A1
|
Activates LCAT
|
|
|
Degrades dietary TG in small intestine
|
Pancreatic lipase
|
|
|
Action of apolipoprotein B48
|
Mediates chylomicron secretion
|
|
|
Shuttle that moves Acetyl-CoA out of mitochondria in FA synthesis
|
Citrate shuttle
|
|
|
Degrades TG circulating in chylomicrons and VLDLs
|
Lipoprotein lipase
|
|
|
Degrades TGs remaining in IDL
|
Hepatic TG lipase
|
|
|
Degrades TG stored in adipocytes
|
Hormone-sensitive lipase
|
|
|
Essential fatty acids
|
Linoleic, linolenic acids, arachidonic acid if linoleic acid absent
|
|
|
Ketone bodies are metabolized in brain into
|
2 acetyl-CoA
|
|
|
Delivers dietary triglycerides to peripheral tissues and dietary cholesterol to liver. Secreted by intestinal epithelial cells.
|
Chylomicrons
|
|
|
Apolipoproteins found on IDL
|
B100, E
|
|
|
Lipoprotein that transports cholesterol from periphery to liver
|
HDL
|
|
|
Underproduction of heme causes what disease
|
Microcytic hypochromic anemia
|
|
|
Excess of what lipoprotein leads to pancreatitis, lipemia, retinalis, and eruptive xanthomas
|
Chylomicrons
|
|
|
Formed in the degradation of VLDL, delivers triglycerides and cholesterol to liver
|
IDL
|
|
|
Acts as a repository for apoC and apoE, secreted from liver and intestine
|
HDL
|
|
|
Accumulation of heme intermediates causes what syndromes
|
Porphyrias
|
|
|
Excess of what lipoprotein causes pancreatitis
|
Chylomicron, VLDL
|
|
|
Excess of what lipoprotein causes atherosclerosis, xanthomas, and arcus corneae
|
LDL
|
|
|
Delivers hepatic triglycerides to peripheral tissues, secreted by liver
|
VLDL
|
|
|
Apolipoproteins found on chylomicrons
|
B48, A, C, and E
|
|
|
Apolipoproteins found on LDL
|
B100
|
|
|
Dyslipidemia with altered apolipoprotein E production
|
Type III dysbetalipoproteinemia
|
|
|
Dyslipidemia with decreased LDL receptors
|
Type IIa hypercholesterolemia
|
|
|
Apolipoproteins found on VLDL
|
B100, CII, and E
|
|
|
Dyslipidemia with hepatic overproduction of VLDL
|
Type IIb combined hyperlipidemia
|
|
|
Dyslipidemia with increased production/decreased clearance of VLDL and chylomicrons
|
Type V - Mixed hypertriglyceridemia
|
|
|
Dyslipidemia with lipoprotein lipase deficiency or altered apolipoprotein CII
|
Type I hyperchylomicronemia
|
|
|
Enzyme affected in lead poisoning
|
Ferrochelatase and ALA dehydrase
|
|
|
Symptoms of porphyrias
|
Painful abdomen, pink urine, polyneuropathy, psychological disturbances, precipitated by drugs
|
|
|
What factors lead to increased T form of hemoglobin
|
Increased Cl-, H+, CO2, 2,3-BPG, and temperature
|
|
|
Fetal hemoglobin has lower affinity for what compound
|
2,3-BPG
|
|
|
Accumuated urine substrate in lead poisoning
|
Coproporphyrin and ALA
|
|
|
Methemoglobin has high affinity for what compound
|
CN-
|
|
|
CO2 binds to what for transport
|
Globin chain at N terminus, not heme
|
|
|
T form of hemoglobin has what O2 affinity
|
Low
|
|
|
Urobilinogen reabsorbed into blood is excreted as what in urine
|
Urobilin
|
|
|
Bilirubin is conjugated with what in the liver
|
Glucuronate
|
|
|
Form of hemoglobin bound to CO rather than O2
|
Carboxyhemoglobin
|
|
|
Oxidized form of hemoglobin that does not bind O2
|
Methemoglobin
|
|
|
Iron in hemoglobin is normally in what state
|
Reduced
|
|
|
Treat toxic levels of methemoglobin with
|
Methylene blue
|
|
|
Enzyme affected in porphyria cutanea tarda
|
Uroporphyrinogen decarboxylase
|
|
|
R form of hemoglobin has what O2 affinity
|
High
|
|
|
Accumulated urine substrate in porphyria cutanea tarda
|
Uroporphyrin (tea-colored)
|
|
|
Subunits of fetal hemoglobin
|
2 alpha, 2 gamma
|
|
|
Enzyme affected in acute intermittent prophyria
|
Uroporphyrinogen I synthase
|
|
|
Subunits of adult hemoglobin
|
2 alpha, 2 beta
|
|
|
Accumuated urine substrate in acute intermittent porphyria
|
Porphobilinogen and delta-ALA
|
|
|
Genetics where a heterozygote produces a non-functioning protein
|
Dominant negative
|
|
|
Genetics where difference in phenotype depends on parental source of mutation
|
Imprinting
|
|
|
Term for the single-hit inheritance of a tumor suppressor gene
|
Loss of heterozygosity
|
|
|
Tendency for certain alleles to occur together more often than separately
|
Linkage disequilibrium
|
|
|
Genetics where neither allele is dominant
|
Codominance
|
|
|
Genetics where mutations at different loci produce the same effect
|
Locus heterogenity
|
|
|
Genetics where 1 gene has more than 1 effect
|
Pleiotropy
|
|
|
Genetics where nature and severity of a phenotype varies by individual
|
Variable Expression
|
|
|
Genetics where the severity of a disease worsens or age of onset lessens each generation
|
Anticipation
|
|
|
Genetics where not all individuals with a gneotype show the phenotype
|
Incomplete penetrance
|
|
|
Disease with mental retardation, obesity, hypogonadism, and hypotonia from paternal allele deletion
|
Prader-Willi Syndrome
|
|
|
Genetics where all females of an affected father have disease
|
X-linked Dominant
|
|
|
Ocular changes in Marfan's syndrome
|
Subluxation of lenses
|
|
|
Lisch nodules are seen with what disease
|
Neurofibromatosis I
|
|
|
Disease with mental retardation, seizures, ataxia, and inappropriate laughter due to a maternal deletion
|
Angelman's Syndrome
|
|
|
Genetic disorder with absent LDL receptor
|
Familial hypercholesterolemia
|
|
|
Von Hippel-Lindau mutation is where
|
VHL (tumor suppressor) on chromosome 3p
|
|
|
Disease with facial lesions, ash leaf spots, cortical/retinal hamartomas, seizures, mental retardation, and renal cysts
|
Tuberous sclerosis
|
|
|
Disease with hemangioblastomas of retina, cerebellum, and medulla, 1/2 have bilateral renal cell carcinomas
|
Von Hippel-Lindau
|
|
|
Disease with bilateral acoustic neuromas and juvenile cataracts
|
Neurofibromatosis II
|
|
|
Disease that has cystic medial necrosis of aorta, aortic incompetence, dissecting AAs, and a floppy mitral valve
|
Marfan's Syndrome
|
|
|
Genetics where all offspring of affected females have disease
|
Mitochondrial inheritance
|
|
|
Juvenile polycystic kidney disease has what form of inheritance
|
Autosomal recessive
|
|
|
Huntington's disease has a decrease in what neurotransmitters
|
GABA, ACh
|
|
|
Marfan's syndrome is due to a mutation of what protein
|
Fibrillin
|
|
|
Neurofibromatosis II mutation is where
|
NF2 on chromosome 22
|
|
|
Mutation in neurofibromatosis I
|
Long arm of chromosome 17
|
|
|
Tuberous sclerosis has what inheritance pattern
|
AD, incomplete penetrance
|
|
|
Complications associated with adult polycystic kidney disease
|
Berry aneurysms, mitral prolapse, polycystic liver disease
|
|
|
Bilateral, large kidney cysts with pain, hematuria, and HTN, AD inheritance
|
Adult Polycystic Kidney Disease
|
|
|
Disease with depression, dementia, choreiform movments
|
Huntington's Disease
|
|
|
Disease with tall stature, long extremities, pectus excavatum, hyperextensive joints, and long fingers/toes
|
Marfan's Syndrome
|
|
|
Disease with Cafe-au-lait spots, neural tumors, and lisch nodules
|
Neurofibromatosis I
|
|
|
Disease where the colon is covered in polyps following puberty
|
Familial adenomatous polyposis
|
|
|
Familial adenomatous polyposis mutation is where
|
Chromosome 5 deletion
|
|
|
Disease caused by mutated, but not deleted, dystrophin
|
Becker's
|
|
|
Huntington's mutation is where
|
Triplet expansion on chromosome 4
|
|
|
Cystic fibrosis infections are typically due to what bacteria
|
Pseudomonas, S. aureus
|
|
|
Disease with macro-orchidism, long face, large everted ears, and autism
|
Fragile X
|
|
|
Trinucleotide repeat disorders
|
Huntington's, Fragile X, Myotonic dystrophy, Friedreich's ataxia
|
|
|
Lab value that is increased with hereditary spherocytosis
|
MCHC
|
|
|
Disease with spheroid erythrocytes and hemolytic anemia
|
Hereditary spherocytosis
|
|
|
Disease with dwarfism, short limbs, but normal head/trunk size
|
Achondroplasia
|
|
|
AD cell signaling defect of FGF receptor 3
|
Achondroplasia
|
|
|
X-linked Recessive diseases
|
<span style="font-weight:600;">B</span>e <span style="font-weight:600;">W</span>ise, <span style="font-weight:600;">F</span>ool's <span style="font-weight:600;">GOLD H</span>eeds <span style="font-weight:600;">S</span>illy <span style="font-weight:600;">H</span>ope <br><span style="font-weight:600;">B</span>ruton's agammaglobulinemia, <span style="font-weight:600;">W</span>iskott-Aldrich, <span style="font-weight:600;">F</span>abry's, <span style="font-weight:600;">G</span>6PD deficiency, <span style="font-weight:600;">O</span>cular albinism, <span style="font-weight:600;">L</span>esch-Nyhan, <span style="font-weight:600;">D</span>uchenne's, <span style="font-weight:600;">H</span>emophilia, <span style="font-weight:600;">S</span>CID, <span style="font-weight:600;">H</span>unter's)
|
|
|
Trisomy 21
|
Down Syndrome
|
|
|
Second most common reason for mental retardation in US
|
Fragile X
|
|
|
Treatment for cystic fibrosis
|
N-acetylcysteine
|
|
|
Muscle loss due to Duchenne's is seen where first
|
Pelvic girdle
|
|
|
Diagnosis of Duchenne's is made by what a change in which lab value
|
Increased CPK
|
|
|
Cystic fibrosis mutation is where
|
AR, CFTR on chromosome 7
|
|
|
Treatment for hereditary spherocytosis
|
Splenectomy
|
|
|
Disease due to a defective Cl- channel that leads to mucus plugs in lungs, pancreas, and liver
|
Cystic fibrosis
|
|
|
Disease due to frame shift deletion of dystrophin
|
Duchenne's
|
|
|
Fragile X is due to what genetic problem
|
Methylation disorder of FMR 1
|
|
|
22q11 microdeletion can variably present as which diseases
|
DiGeorge, velocardiofacial
|
|
|
Most common chromosomal disorder
|
Trisomy 21
|
|
|
Disease with microcephaly, severe mental retardation, epicanthal folds, and high-pitched cry/mew
|
Cri-du-chat
|
|
|
Most cases of Down syndrome are caused by what genetics
|
Meiotic nondisjunction
|
|
|
Most common genetic cause of mental retardation in US
|
Trisomy 21
|
|
|
Disease with mental retardation, flat facial profile, simian crease, duodenal atresia, and ASD
|
Down syndrome
|
|
|
Trisomy 18
|
Edward's syndrome
|
|
|
Disease with severe mental retardation, micropthalmia, microcephaly, cleft lip, abnormal forebrain, and polydactyly
|
Patau's syndrome
|
|
|
Disease with severe mental retardation, rocker bottom feet, low set ears, and micrognathia
|
Edwards' syndrome
|
|
|
Cri-du-chat mutation is where
|
Deletion of chromosome 5 short arm
|
|
|
Number 1 cause of congenital malformations in US
|
Fetal alcohol syndrome
|
|
|
Trisomy 13
|
Patau's syndrome
|
|
|
22q11 Syndromes
|
CATCH-22 (Cleft palate, Abnormal facies, Thymic aplasia, Cardiac defects, Hypocalcemia)
|
|
|
Patients with Down syndrome are at risk for what
|
ALL
|
|
|
Lab changes in Down syndrome
|
Decreased a-fetoprotein, decreased estriol, increased B-hCG, increased nuchal translucency, increased inhibin A
|
|
|
Condensed, inactive chromatin
|
Heterochromatin
|
|
|
Purine bases
|
Adenine, Guanine (A, G)
|
|
|
Histones found in nucleosome core
|
Two each of H2A, H2B, H3, H4
|
|
|
Pyrimidine bases
|
Cytosine, thymine, uracin (C, T, U)
|
|
|
Nucleotide with ketone
|
Guanine
|
|
|
Enzyme that degrades RNA primer with 5'->3' exonuclease in DNA replication
|
DNA polymerase I
|
|
|
Amino acid that has only one codon
|
Methionine
|
|
|
Enzyme that nicks helix and prevents supercoiling in DNA replication
|
Topoisomerase
|
|
|
Amino acids needed for purine synthesis
|
Glycine, aspartate, glutamine
|
|
|
Origin of replication in eukarytoes
|
Multiple, AT rich sequences
|
|
|
Origin of replication in prokaryotes
|
oriC (Single, bidirectional)
|
|
|
Enzyme that creates RNA primer in DNA replication
|
Primase
|
|
|
Xeroderma pigmentosa results from mutations in what system
|
Nucleotide excision repair
|
|
|
Insertions or deletions in RNA that are not multiples of 3 are what type of mutation
|
Frameshift
|
|
|
Hereditary nonpolyposis colon cancer (HNPCC) results from a mutation in what system
|
DNA mismatch repair
|
|
|
Number of bonds in A-T/U
|
2 bonds
|
|
|
RNA with largest size
|
mRNA
|
|
|
Substition of base with identical type
|
Transition
|
|
|
Most abundant type of RNA
|
rRNA
|
|
|
Increases DNA melting temp
|
High GC content
|
|
|
Deamination of cytosine forms
|
Uracil
|
|
|
Nucleotide with methyl group
|
Thymine
|
|
|
Mutation that results in early stop codon
|
Nonsense
|
|
|
Substition of base with different type
|
Transversion
|
|
|
Enzyme found in base excision, but not nucleotide excision, repair
|
Glycosylases
|
|
|
Mutation that results in amino acid with similar structure
|
Missense
|
|
|
Enzyme that elongates DNA, has 3'->5' exonuclease in DNA replication
|
DNA polymerase III
|
|
|
Number of bonds in G-C
|
3 bonds
|
|
|
Enzyme that seals gaps in DNA replication
|
DNA ligase
|
|
|
Stop codons
|
UGA, UAG, UAA
|
|
|
Energy source for tRNA translocation
|
GTP
|
|
|
Site in DNA where negative regulatory factors bind
|
Operator
|
|
|
Bound to the 3' end of tRNA
|
CCA-Amino acid (CCA sequence covalently bound to amino acid)
|
|
|
Pieces of RNA that are removed by splicing
|
Introns
|
|
|
Ribosome sites in order 5'->3'
|
E, P, A
|
|
|
Post-transcriptional modifications
|
7-methyl-G cap, 3' polyadenylation, intron splicing
|
|
|
Site of RNA polymerase binding
|
Promoter (TATA, CAAT)
|
|
|
Start codon
|
AUG (Met - Eukaryote, f-Met - Prokaryote)
|
|
|
Protein component of spliceosome
|
snRNPs
|
|
|
Name of non-modified RNA transcript
|
Heterogeneous nuclear RNA (hnRNA)
|
|
|
Covalent, post-translational modifications
|
Phosphorylation, glycosylation, hydroxylation
|
|
|
Exceptions to the universal genetic code
|
Mitochondria, achaebacteria, mycoplasma
|
|
|
Section of DNA that alters gene expression
|
Enhancer
|
|
|
Attached to proteins to tag them for degradation
|
Ubiquitin
|
|
|
Energy source for tRNA activation
|
ATP
|
|
|
Smallest type of RNA
|
tRNA
|
|
|
Polymerase that makes mRNA
|
RNA Polymerase II
|
|
|
Polymerase that makes tRNA
|
RNA Polymerase III
|
|
|
Polymerase that makes rRNA
|
RNA Polymerase I
|
|
|
Inhibits RNA polymerase II
|
a-amanitin
|
|
|
Diarrhea, dermatitis, and dementia are seen in what disease
|
Pellagra
|
|
|
Function of vitamin B6
|
Decarboxylation cofactor: Heme synthesis, homocystine breakdown, transamination
|
|
|
Function of B2
|
riboFlavin -> FAD/FMN (B2 = 2 ATP)
|
|
|
Macrocytic megaloblastic anemia with neurologic symptoms is seen with which vitamin deficiency
|
B12 (Cobalamin)
|
|
|
Pellagra is seen in what vitamin deficiency
|
B3 (Niacin)
|
|
|
Beri-Beri and Wernicke-Korsakoff are due to deficiency of what vitamin
|
B1 deficiency
|
|
|
Dermatitis, enteritis, alopecia, and adrenal insufficiency are seen with what vitamin deficiency
|
B5 (Pantothenate)
|
|
|
Angular stomatitis, cheilosis, and corneal vascularization are seen in what vitamin deficiency
|
B2 (Riboflavin)
|
|
|
Convulsions, hyperiritability, and peripheral neuropathies are seen in what vitamin deficiency
|
B6 (Pyridoxine)
|
|
|
Function of vitamin B3
|
Niacin -> NAD/NADP (B3 = 3 ATP)
|
|
|
Macrocytic megaloblastic anemia without neurologic symptoms is seen with what deficiency
|
Folic acid
|
|
|
Function of vitamin B5
|
Pantothen-A -> CoA, FA synthesis
|
|
|
Dermatitis and enteritis are seen with what vitamin deficiency
|
B5, Biotin
|
|
|
Cholecalciferol
|
D3 (sun)
|
|
|
Rickets and osteomalacia are seen with what vitamin deficiency
|
Vitamin D
|
|
|
Vitamin K dependent coagulation factors
|
II, VII, IX, X, C, S
|
|
|
Vitamin K antagonist
|
Warfarin
|
|
|
Storage form of vitamin D
|
25-OH D3
|
|
|
Function of Vitamin D
|
Increased intestinal absorption of Ca++/PO4
|
|
|
Function of folic acid
|
1 carbon transfer, DNA/RNA base synthesis
|
|
|
Erythrocyte fragility, neurologic symptoms are seen in what vitamin deficiency
|
Vitamin E
|
|
|
Delayed healing, hypogonadism, and decreased adult hair are seen with what deficiency
|
Zinc
|
|
|
Labs that are increased with Vitamin K deficiency
|
PT, aPTT
|
|
|
Function of vitamin B12
|
Methionine and Succinyl-CoA production
|
|
|
Ergocalciferol
|
D2 (milk)
|
|
|
Mechanisms of B12 deficiency
|
Malabsorption, lack of IF, loss of terminal ileum
|
|
|
Active form of vitamin D
|
1,25(OH)2 D3
|
|
|
Mechanism of biotin deficiency
|
Raw eggs, antibiotic use
|
|
|
Generalized symptoms of vitamin B deficiency
|
Dermatitis, glossitis, diarrhea
|
|
|
Storage location of B12
|
Liver
|
|
|
Function of vitamin C
|
Crosslinks collagen
|
|
|
Function of biotin
|
Carboxylation cofactor (oxaloacetate, malonyl-CoA, methylmalonyl-CoA)
|
|
|
Neonatal hemorrhage is seen with what vitamin deficiency
|
Vitamin K
|
|
|
Ethanol -> acetate uses what cofactors
|
2 NAD+ -> NADH
|
|
|
Most common lysosomal storage disease
|
Gaucher's Disease
|
|
|
Malnutrition that leads to tissue/muscle wasting, subcutaneous fat loss, and variable edema
|
Marasmus
|
|
|
B1
|
Thiamine
|
|
|
B12
|
Cobalamin
|
|
|
Buildup of NADH has what effect on metabolism in liver
|
Pyr -> lactate, Oxaloacetate -> malate (FA synthesis)
|
|
|
Malabsoprtion/malnutrition that leads to edema, anemia, and fatty liver
|
Kwashiorkor
|
|
|
B3
|
Niacin
|
|
|
B5
|
Pantothenate
|
|
|
B6
|
Pyridoxine
|
|
|
B2
|
Riboflavin
|
|
|
Marasmus is due to what deficiency
|
Protein, calories
|
|
|
Kwashiorkor is due to what deficiency
|
Protein
|
|
|
What molecules help form purines?
|
Glycine<br>Aspartate<br>Glutamine<br>formyl-THF<br>CO2
|
|
|
What molecules help form pyrimidines?
|
Aspartate<br>Carbamoyl phosphate
|
|
|
Zinc fingers
|
Steroid receptors and PPARs
|
|
|
Leucine zipper
|
CREB protein (cAMP response element binding protein)
|
|
|
Helix-turn-helix
|
Hemeodomain proteins
|
|
|
Drug that acts through PPAR-alpha<br><br>Drug that acts through PPAR-gamma<br><br>
|
Fibrates and Thiazolidinediones respectively
|
|
|
Disease that involves a Microtubule polymerization defect
|
Chediak Higashi syndrome <br><br><br><br>-recurrent pyogenic infections (impaired phagocytosis)<br>-partial albinism (failure of fusion of melanosomes)<br>-peripheral neuropathy (failure of axoplasmic transport in transport)
|
|
|
5 Drugs that act on microtubules
|
Mebendazole/Thiabendazole (anti-helminthic)<br>Griseofulvin (anti-fungal)<br><br>Vincristine/Vinblastine (anti-cancer)<br>Paclitaxel (anti-breast cancer)<br><br>Colchicine (anti-gout)
|
|
|
Functions of Actin and Myosin
|
4 M's<br /><br /><span style="font-weight:600;">M</span>icrovilli<br /><span style="font-weight:600;">M</span>uscle contraction<br /><span style="font-weight:600;">M</span>ovement (cytokinesis)<br /><span style="font-weight:600;">W</span>elding (adherens junctions) [upside down M]
|
|
|
Type of collagen in early wound repair? How about late wound repair?
|
type III and type I respectively
|
|
|
type of collagen in cartilage
|
type II (carTWOlage)
|
|
|
Where is type III collagen found
|
skin, blood vessels, uterus, fetal tissue, granulation tissue
|
|
|
Where is type IV collagen found?
|
basement membrane (type FOUR under the FLOOR)
|
|
|
What is preprocollagen?
|
alpha chain
|
|
|
What is procollagen?
|
triple helix of 3 alpha chains
|
|
|
What is tropocollagen?
|
cleavage of terminal regions of procollagen --> tropocollagen
|
|
|
What is a collagen fibril?
|
covalent cross-linkage of tropocollagen --> collagen fibril
|
|
|
Steps of Collagen synthesis inside fibroblasts
|
1. Translation: preprocollagen<br>2. Hydroxylation<br>3. Glycoslation --> triple helix (procollagen)<br>4. Exocytosis
|
|
|
Steps of Collagen synthesis Outside fibroblasts
|
1. Proteolytic processing: tropocollagen<br>2. Covalent Cross-linking: collagen fibrils
|
|
|
Ehlers-Danlos syndrome<br><br>Which type of collagen is usually affected?<br>Which step in collagen synthesis is usually affected?
|
Type III collagen<br>covalent cross-linking
|
|
|
Osteogenesis imperfecta:<br><br>Which type of collagen is usually affected?<br>Which step in collagen synthesis is affected?
|
Type I collagen<br>Triple helix formation
|
|
|
Scurvy <br><br>Which step in collagen synthesis is affected?
|
<br>Hydroxylation
|
|
|
Alport's syndrome<br><br>Which type of collagen is usually affected?<br>Symptoms?
|
Type IV collagen (basement membranes)<br>Nephritis, deafness, ocular disturbances
|
|
|
Rate limiting enzyme of glycolysis
|
PFK-1<br>
|
|
|
Rate limiting enzyme of Gluconeogenesis
|
Fructose-1,6-bisphosphatase
|
|
|
Rate limiting enzyme of TCA cycle
|
isocitrate dehydrogenase
|
|
|
Rate limiting enzyme of Glycogen synthesis and Glycogenolysis
|
Glycogen synthase and Glycogen phosphorylase respectively
|
|
|
Rate limiting enzyme of de novo pyrimidine synthesis
|
CPS-II
|
|
|
Rate limiting enzyme of de novo purine synthesis
|
Glutamine-PRPP amidotransferase
|
|
|
Rate limiting enzyme of Urea cycle
|
CPS-I
|
|
|
Rate limiting enzyme of Fatty acid synthesis
|
Acetyl-CoA carboxylase
|
|
|
Rate limiting enzyme of Fatty acid oxidation
|
Carnitine acyltransferase I
|
|
|
Rate limiting enzyme of Cholesterol synthase
|
HMG-CoA reductase
|
|
|
Rate limiting enzyme of Ketogenesis
|
HMG-CoA synthase
|
|
|
Derivatives of Arginine
|
Creatine, Urea, Nitric oxide
|
|
|
Derivatives of Glycine
|
Heme, Creatine
|
|
|
Derivatives of Tryptophan
|
Serotonin --> Melatonin<br>Niacin
|
|
|
Derivatives of Phenylalanine
|
Tyrosine<br>Thyroxine<br>Dopa, Melanin, Dopamine, Norepinephrine, Epinephrine
|
|
|
HVA
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dopamine
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VMA
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norepinephrine
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Metanephrine
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Epinephrine
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Derivatives of Glutamate
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GABA, Glutathione
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Differences between HbA, HbS, and HbC
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6th position is:<br>HbA: Glutamate (negative)<br>HbS: Valine (neutral)<br>HbC: Lysine (positive)
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pKa of all neutral amino acids
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2 and 9
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pKa's of acidic amino acids
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2, <span style="font-weight:600;">4</span>, 9<br><br>(glutamate, aspartate)
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pKa's of basic amino acids
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Arginine: 2, 12.5, 9 (most basic)<br>Lysine: 2, 10.5, 9<br>Histidine: 2, 6, 9 (least basic, has no charge at body pH)
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