BPM 1 Spring 2019

FTM Module - Lecture and DLA

Objectives

Term 1 Professionalism Objectives

1. Students will learn and practice communication skills for giving and receiving feedback.
2. Using role played interactions, students will identify and analyze value-laden conflicts.
3. Students will discuss benefits and challenges related to team and group work during Basic Sciences.
4. Students will reflect on the use of donor bodies in medical education and medical history.
5. Students will explore the balance between wellness, studying, and good grades.

Week 1 January 21st - January 25th

DLA Cellular Organization
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0102 Describe the ultrastructure of the cell membrane.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0103 List the three major classes of membrane lipids.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0104 Describe the structure and function of phospholipids in the plasma membrane.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0105 Describe the structure and function of cholesterol in the plasma membrane.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0106 Describe the structure and function of glycolipids in the plasma membrane.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0107 List the two major classes of membrane proteins.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0108 Describe the categories of integral membrane proteins.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0109 Describe the freeze fracture technique to visualize integral membrane proteins.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0110 Describe the structure and function of the glycocalyx.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0111 Explain the fluid mosaic model of membrane structure.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0112 List the two major types of vesicular transport.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0113 Describe the precise targeting of vesicles within the cell.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0114 List and describe the three different mechanisms of endocytosis.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0115 Describe the role of endosomes in vesicular transport.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0116 List and describe the four pathways for processing internalized ligand-receptor complexes.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0117 List and describe the two general pathways of exocytosis.

Lecture 1 Cellular Organization I

SOM.1ai.BPM1.1.FTM.3.HCB.MB.0101 List the domains of cellular life.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0201 Identify, list and describe the structure & function of the nucleus, ribosomes, endoplasmic reticulum (RER & SER), Golgi
apparatus, lysosome, peroxisome and mitochondria.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0202 Identify & describe the structure and function of the nucleolus, nuclear envelope and nuclear pore complex.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0203 Describe the organization & structure of chromatin.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0204 Distinguish euchromatin and heterochromatin in a nucleus.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0205 Predict cellular activity based on the chromatin structure.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0206 Describe the bi-directional vesicle transport between the endoplasmic reticulum and Golgi apparatus.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0207 Describe protein trafficking for lysosomes, secretion, plasma membrane, nucleus, mitochondria, cytosol and peroxisomes.

SOM.1ai.BPM1.1.FTM.3.HCB.MB.0208 List and describe the three cellular pathways to lysosomal degradation.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0210 Discuss the basic concepts of peroxisomal disorders and Zellweger syndrome.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0211 Discuss the basic concepts of lysosomal storage diseases and Tay-Sachs disease.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0212 Describe the process of autophagy.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0213 Describe the structure and function of the proteasome.

Lecture 2 Cellular Organization II

SOM.1ai.BPM1.1.FTM.3.HCB.MB.0301 List the three major types of protein filaments that form the cytoskeleton.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0302 Identify & describe the structure, function and assembly of microtubules, intermediate filaments and microfilaments.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0303 Discuss the compounds that affect microtubules.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0304 Discuss the compounds that affect microfilaments.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0305 Describe the structure and function of the centrosome.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0306 Identify & describe the structure and function of primary cilia, motile cilia and flagella.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0307 List and describe the molecular motor proteins associated with microfilaments and microtubules.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0308 Describe role of the cytoskeleton in intracellular transport and cellular motility.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0309 Describe cell motility across a substrate.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0310 Describe the three types of membrane protrusion structures.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0311 Describe the role of actin polymerization in membrane protrusion and motility.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0209 Describe the types of intracellular inclusions.

DLA Cell Cycle

SOM.1ai.BPM1.1.FTM.3.HCB.MB.0501 List and describe the sequence of events occurring in interphase.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0502 List and describe the sequence of events occurring in mitosis.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0503 Identify & describe the phases of mitosis.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0504 Describe the structure and function of the centromere, kinetochore, centrosome and mitotic spindle.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0509 List and describe the sequence of events occurring in meiosis.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0510 List and describe the 5 stages of prophase I in meiosis I.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0511 List and describe the two events in meiosis that increase genetic diversity.
DLA Cell Cycle Regulation
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0505 Describe the role of cyclins and cyclin-dependent kinases in cell cycle regulation.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0506 Describe the role of pRB, p53 and CDC25 in cell cycle regulation.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0507 List and describe the checkpoints in cell cycle regulation.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0508 Describe the role of the anaphase-promoting complex in mitosis and cell cycle regulation.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0512 Define proto-oncogene, oncogene and tumor suppressor gene.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0513 Describe the correlation between cell cycle control and cancer.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0514 Describe the role of the retinoblastoma (Rb) and p53 tumor suppressor genes in the cell cycle and cancer.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0515 Explain the role of telomerase in cell senescence and tumor growth.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0516 Explain how abnormal cell division can result in clinical syndromes.

Lecture 3 Homeostasis
SOM.1aii.BPM1.1.FTM.3.PHYS.CP.0101 Understand the general concepts of homeostasis and the principles of positive and negative feedback in physiological
systems.
SOM.1aii.BPM1.1.FTM.3.PHYS.CP.0102 List the typical values and normal ranges for plasma Na+, K+, H+ (pH), HCO3-, Cl-, Ca+2, and glucose, and the typical
intracellular pH and concentrations of Na+, K+, Cl-, Ca+2, and HCO3.
SOM.1aii.BPM1.1.FTM.3.PHYS.CP.0103 Define the term “steady state” and differentiate it from “equilibrium.”
SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0201 Contrast the following units used to describe concentration: mM, mEq/l, mg/dl, mg%.
SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0202 Differentiate between the terms osmolarity and osmolality. List the typical value and normal range for plasma osmolality.

DLA Membrane and Gas Transport

SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0201 Describe the composition of a cell membrane. Diagram its cross section, and explain how the distribution of phospholipids
and proteins influences the membrane permeability of ions, hydrophilic and hydrophobic compounds.
SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0202 Differentiate the following terms based on the source of energy driving the process and the molecular pathway for: simple
diffusion, facilitated diffusion, secondary active transport, and primary active transport.
SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0203 Describe the linear relationship between forces and flows (Ohm’s Law, Fick’s Law of diffusion, and the law of hydrodynamic
flow).
SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0204 Write Fick’s Law of diffusion, and explain how changes in the concentration gradient, surface area, time, and distance will
influence the diffusional movement of a compound.

SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0205 Based on the principle of ionic attraction, explain how a potential difference across a membrane will influence the
distribution of a cation and an anion.
SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0206 Describe how transport rates of certain molecules and ions are accelerated by specific membrane transport proteins
(“transporter” and
“channel” molecules).
SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0207 Describe how energy from ATP hydrolysis is used to transport ions such as Na+, K+, Ca+2, and H+ against their
electrochemical differences (e.g., via the
Na+ pump, sarcoplasmic reticulum Ca+2 pump, and gastric H+ pump).

SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0208 Explain how energy from the Na+ and K+ electrochemical gradients across the plasma membrane can be used to drive the net
“uphill”
(against a gradient) movement of other solutes (e.g., Na+/glucose co-transport; Na+/Ca+2 exchange or counter-transport).

SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0209 Describe the mechanisms of endocytosis and exocytosis.

SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0210 Contrast the gating of ion selective channels by extracellular ligands, intracellular ligands, stretch, and voltage.
SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0211 Describe the functional significance of polarized distribution of various transport proteins to the apical or the basolateral cell
membrane.

SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0212 Explain Dalton’s Law and how percentages of a gas within a gas mixture are used to measure total pressure contribution.

SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0213 Explain Henry’s Law and the factors that determine the amount of gas that will dissolve into liquid.
SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0214 Using a cell membrane as an example, define reflection coefficient and partition coefficient, and explain how the relative
permeability of a cell to water and solutes will generate an osmotic pressure. Contrast the osmotic pressure generated across
a cell membrane by a solution of particles that freely cross the membrane with that of a solution with the same osmolality,
but particles that cannot cross the cell membrane.

SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0215 Draw an epithelium, labeling the tight junctions, the apical membrane, and the basolateral membrane. Trace the movement
of a compound that
travels across an epithelium by a transcellular pathway and a compound that travels via a paracellular pathway.
SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0216 Explain the role of the “tight” junctions in leaky and tight epithelia.
DLA Structure and Function of Lipids
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0101 Review the grouping of lipids (Fatty acids, triacylglycerols, phospholipids, sphingolipids, steroids)
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0102 Discuss the structure and the biomedical importance of cholesterol
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0103 Describe fatty acid structure and discuss the melting points related to chain length and desaturation and relate its
significance to fluidity of the cell membrane
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0104 Discuss the biological importance of dietary essential fatty acids and describe in detail the structures of linoleic acid (ω-6)
and a-linolenic acid (ω-3)
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0105 Discuss the grouping of fatty acids into the ω-6 and ω-3 families and describe in general the synthesis of arachidonic acid and
of docosahexaenoic acid (DHA)
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0106 Describe the structures and functions of triacylglycerols.
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0107 Distinguish between phospholipids (Sphingophospholipid and glycerophospholipids) and glycolipids with examples for each

SOM.1a.BPM1.1.FTM.3.BCHM.BT.0108 Classify complex lipids: Phospholipids which can be further classified based on the alcohol as Sphingophospholipid (Eg:
Sphingomyelin), Glycerophospholipids (Eg: Phosphatidylcholine, phosphatidylethanolamine, phosphatidylserine,
phosphatidylinositol, cardiolipin), Glycolipids (or Sphingoglycolipids or Glycosphingolipids) – Contain a carbohydrate group:
Examples: Cerebrosides, Globosides, Gangliosides and sulfatides
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0109 Indicate the composition and functions of: Glycerophospholipids: Phosphatidylcholine, phosphatidylethanolamine,
plasmalogens, phosphatidylserine, phosphatidylinositol, cardiolipin, Sphingophospholipid: Sphingomyelin, Glycolipids (or
Sphingoglycolipids or Glycosphingolipids): Cerebrosides, globosides and gangliosides
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0110 Discuss role of lung surfactant (Dipalmitoyl phosphatidylcholine/ DPPC) in respiratory distress syndrome

DLA Membrane Structure and Transport

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.0401 Describe the fluid mosaic model for membrane structure.

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.0402 Discuss in general complex lipid (phospholipids and glycolipids) composition of the plasma membrane.
SOM.1ai.BPM1.1.FTM.3.BCHM.CP.0403 Discuss the function of cholesterol in the plasma membrane.
SOM.1ai.BPM1.1.FTM.3.BCHM.CP.0404 Discuss the factors involved in regulating membrane fluidity.
SOM.1ai.BPM1.1.FTM.3.BCHM.CP.0405 Differentiate between active and passive transport systems based on energy requirement and movement along the
concentration gradient.
SOM.1ai.BPM1.1.FTM.3.BCHM.CP.0406 Discuss facilitated diffusion using the families of the glucose transporters GLUT 1-5 as examples and indicate their main
locations and characteristics.
SOM.1ai.BPM1.1.FTM.3.BCHM.CP.0407 Describe the clinical features of hereditary GLUT-1 deficiency.
SOM.1ai.BPM1.1.FTM.3.BCHM.CP.0408 Distinguish between primary active transport (Na+/K+ -ATPase) and secondary active transport (SGLT).
SOM.1ai.BPM1.1.FTM.3.BCHM.CP.0409 Explain the role of ABC transporters. Describe the CFTR channel.
SOM.1ai.BPM1.1.FTM.3.BCHM.CP.0410 Predict the effects of CFTR mutations in the lung epithelial cells and in the pancreas. Identify lab tests used for diagnosis of
cystic fibrosis.

Lecture 4 Tonicity and Osmolarity

SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0301 Differentiate between the terms osmolarity and tonicity.
SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0302 Describe the role of water channels (aquaporins) in facilitating the movement of water across biological membranes.

SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0303 Understand how regulation of the concentrations of K+, Cl-, and other Na+ solutes influence cell volume.
SOM.1ai.BPM1.1.FTM.3.PHYS.CP.0304 Understand that movement of water is driven by solute movement.

Lecture 5 Resting Membrane Potential

SOM.1ai.BPM1.1.FTM.PHYS.CP.0501 Understand that the difference in free energy of a solute or solvent between two components can have chemical, electrical
and/or hydrostatic pressure components. At equilibrium, for a given component, the free energy difference between the two
compartments is zero.
SOM.1ai.BPM1.1.FTM.PHYS.CP.0502 Based on the principle of ionic attraction, explain how a potential difference across a membrane will influence the
distribution of a cation and an anion.
SOM.1ai.BPM1.1.FTM.PHYS.CP.0503 Write the Nernst equation and indicate how this equation accounts for both the chemical and electrical driving forces that act
on an ion. Explain the effects of altering the intracellular or extracellular Na+, K+, Cl-, or Ca2+ concentration on the equilibrium
potential for that ion.
SOM.1ai.BPM1.1.FTM.PHYS.CP.0504 Based on the Nernst equilibrium potential, predict the direction that an ion will take (follow) when the membrane potential
a) is at its equilibrium potential, b) is higher than the equilibrium potential, or c) is less than the equilibrium potential. List
values in a typical non-excitable cell for the membrane potential, for E Na , E K , E Cl , and E Ca .

SOM.1ai.BPM1.1.FTM.PHYS.CP.0505 Define the concepts of electrochemical equilibrium and equilibrium potential and give internal and external ion
concentrations. Be able to calculate an equilibrium potential for that ion using the Nernst equation. Contrast the difference in
E K (the Nernst potential for K+) caused by a 5 mEq/l increase in extracellular K+ with the change in E Na (the Nernst potential
for Na+) caused by a 5 mEq/l increase in extracellular Na+.
SOM.1ai.BPM1.1.FTM.PHYS.CP.0506 Describe the normal distribution of Na+, K+, and Cl- across the cell membrane, and using either the Goldman-Hodgkin-Katz
chord conductance equation explain how the relative permeabilities of these ions create a resting membrane potential. Given
an increase or decrease in the permeability of K+, Na+, or Cl-, predict how the membrane potential would change. (Not
required to calculate on exams)
Lecture 6 Action Potentials
SOM.1ai.BPM1.1.FTM.PHYS.CP.0701 Define the following properties of ion channels: gating, activation, and inactivation.
SOM.1ai.BPM1.1.FTM.PHYS.CP.0702 Contrast the gating of ion selective channels by extracellular ligands, intracellular ligands, stretch, and voltage.
SOM.1ai.BPM1.1.FTM.PHYS.CP.0703 Know the properties of voltage-gated Na+, K+, and Ca2+ channels, and understand that voltage influences their gating,
activation, and inactivation.
SOM.1ai.BPM1.1.FTM.PHYS.CP.0704 Understand how the activity of voltage-gated Na+, K+, and Ca2+ channels generates an action potential and the roles of those
channels in each phase (depolarization, overshoot, repolarization, hyperpolarization) of the action potential.

SOM.1ai.BPM1.1.FTM.PHYS.CP.0705 Describe ionic basis of an action potential.

SOM.1ai.BPM1.1.FTM.PHYS.CP.0706 Draw a typical action potential and explain why afterhyperpolarization coincides with the greatest fractional K conductance
but not the greatest absolute K conductance.
SOM.1ai.BPM1.1.FTM.PHYS.CP.0707 Using the Nernst equation and knowledge of sodium channel voltage dependent gating mechanisms (activation and
inactivation gates), contrast the mechanisms leading to weakness and paralysis due to hypo- and hyper-kalemia.
SOM.1ai.BPM1.1.FTM.PHYS.CP.0708 Draw a graph that shows how the voltage sensitivity of the voltage gated sodium channel changes with extracellular calcium
concentration.
SOM.1ai.BPM1.1.FTM.PHYS.CP.0709 Contrast the role that chronic depolarization (e.g. with hyperkalemia) plays in the activation of the K and Na conductances
versus rapid depolarization (graded potential towards threshold).

DLA Early Embryology

SOM.1ai.BPM1.1.FTM.3.ANAT.EE.0101 Briefly describe the process from fertilization to the formation of the blastocyst, paying attention to the location and
timeframe of each event
SOM.1ai.BPM1.1.FTM.3.ANAT.EE.0102 Describe the location and process of implantation of the blastocyst.
SOM.1ai.BPM1.1.FTM.3.ANAT.EE.0104 Describe the sequence of events that leads to development of the amniotic cavity, bilaminar embryo, primitive umbilical
vesicle (yolk sac), extraembryonic mesoderm
SOM.1ai.BPM1.1.FTM.3.ANAT.EE.0105 Describe the formation of the three germ layers - gastrulation.
SOM.1ai.BPM1.1.FTM.3.ANAT.EE.0106 Describe the development of the notochord and its role in induction of the neural plate.
SOM.1ai.BPM1.1.FTM.3.ANAT.EE.0107
Describe the fate of the intraembryonic mesoderm, including the development of the somites and intraembryonic coelom.
SOM.1ai.BPM1.1.FTM.3.ANAT.EE.0108 Describe the folding of the embryo, paying particular attention to the sequence and timing at which folding occurs.
SOM.1aiii.BPM1.1.FTM.3.ANAT.EE.0109
Describe the embryology and clinical presentation of sacrococcygeal teratoma

Lecture 7 Apoptosis and Necrosis

SOM.1ai.BPM1.1.FTM.3.HCB.MB.0401 Define the terms neoplasm, benign, malignant & metastasis.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0402 Describe the classification of cancer cells including carcinoma, sarcoma and leukemia.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0403 Discuss the hallmarks of cancer.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0404 Describe tumor growth and progression.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0405 Define the terms “primary tumor” and “metastases” (secondary tumors).
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0406 List the main modes for spread of malignant neoplasms.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0407 Describe karyotyping and cytogenetic studies and explain their clinical significance.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0408 Describe fluorescent in situ hybridization (FISH)
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0409 Compare and contrast the morphological and biochemical features of necrosis vs. apoptosis.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0410 Describe the intrinsic apoptosis pathway.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0411 Describe the extrinsic apoptosis pathway.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0412 Describe the role of caspases in apoptosis.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0413 List examples of physiological processes involving apoptosis.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.0414 Discuss methods to assess necrosis and apoptosis.

DLA Epithelium
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0201 List and describe the four basic tissue types.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0202 Define epithelium.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0203 Describe the structural and functional characteristics that distinguish epithelial tissues from the three other basic tissues.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0204 Describe the classification of epithelial tissue.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0205 Identify & describe the structure, function and localization of each type of epithelia.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0206 Identify & describe the structure, function and localization of cilia.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0207 Identify & describe the structure and function of the basal body.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0208 Describe the terminal web.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0209 Identify & describe the structure, function and localization of microvilli.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0210 Identify & describe the structure, function and localization of stereocilia.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0211 Discuss the basic concepts of immotile cilia syndromes and Kartagener’s syndrome.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0212 Describe the histogenesis of the four basic tissue types.
Lecture 8 Epithelium and Glands
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0301 Identify & describe the structure, function and localization of zonula occludens.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0302 Identify & describe the structure, function and localization of zonula adherens.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0303 Identify & describe the structure, function and localization of gap junctions.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0304 Identify & describe the structure, function and localization of desmosomes,
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0305 Describe the terminal bar.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0306 Identify & describe the structure and function of lateral digitations.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0307 Identify & describe the structure, function and localization of focal adhesions.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0308 Identify & describe the structure, function and localization of hemidesmosomes.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0309 Identify & describe the structure and function of basal infoldings.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0310 Describe the structure of the basement membrane.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0311 Describe the structure and function of the basal lamina.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0312 Compare and contrast basement membrane vs. basal lamina vs external lamina.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0313 Compare and contrast exocrine vs. endocrine glands.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0314 List and describe the three modes of secretion in exocrine glands.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0315 Describe the classification of multicellular exocrine glands.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0316 Identify & describe serous glands.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0317 Identify & describe mucous glands.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0318 Identify & describe mixed glands.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0319 Describe the histology of a compound salivary gland.
SOM.1ai.BPM1.1.FTM.3.HCB.BT.0320 Identify parotid, submandibular and sublingual salivary glands.

DLA Structure and Function of Nucleic

Acids
Distinguish between purines, pyrimidines; ribonucleosides, deoxyribonucleosides; ribonucleotides and deoxyribonucleotides.

Describe the phosphodiester bond

List and describe the important features of the Watson-Crick DNA double helix (complementary, antiparallel, and forces
stabilizing the helix).
Discuss some of the physicochemical properties of DNA
Describe the basic structures and roles of the major classes of RNA (mRNA, tRNA, rRNA, snRNA, miRNA)
Predict the sequence of the complementary strand if the sequence of one of the DNA strands is provided.
Analyze the nucleotide composition of double stranded DNA using the Chargaff’s rule

DLA DNA Packaging

Define the term supercoiling
Differentiate between a supercoiled and a relaxed molecule.
State the reasons why supercoiling of DNA molecules is important.
Compare and contrast DNA packaging in prokaryotes and eukaryotes.
Describe the action of DNA gyrase.
List the antibiotic drugs that interfere with DNA gyrase.
Describe the structure of chromatin and histone proteins.
Explain how dsDNA and histones associate to form the nucleosome.
Describe the different structural conformations of DNA packaging in eukaryotes (10 nm
Fiber , 30 nm fiber and metaphase chromosomes).
Describe how histone modification can influence transcriptional activity

Lecture 9 DNA Replication

SOM.1ai.BPM1.1.FTM.3.BCHM.MB.9.1 Describe semi-conservation replication of DNA
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.9.2 Compare and contrast the similarities and differences between DNA Pol I and DNA Pol III of E. coli
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.9.3 Describe how DNA is synthesized from its 5’ to 3’ end
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.9.4 Explain the significance of the origin of replication
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.9.5 Explain the problems associated with unwinding of the DNA double helix
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.9.6 Describe the role of helicase enzymes in unwinding DNA prior to its replication
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.9.7 Describe the role of single-strand binding protein & topoisomerases in DNA replication
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.9.8 Outline the order of events from RNA priming to completed DNA during replication in E.coli.
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.9.9 Distinguish between synthesis of leading and lagging strands of DNA. Identify the significance of DNA ligase in lagging strand
synthesis
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.9.10 Analyze the significance of the various proteins and enzymes required for replication. Predict the effects of mutations of
these proteins and enzymes on DNA replication
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.9.11 Evaluate the proofreading activity of DNA polymerase
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.9.12 Differentiate between DNA replication in eukaryotes and prokaryotes
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.9.13 Describe the role of telomeres and telomerase in eukaryotic DNA replication
SOM.1ai.BPM1.1.FTM.4.BCHM.MB.9.14 Outline the mechanisms of action of drugs that interfere with DNA replication
Week 2 January 28th - February 1st
DLA RNA Polymerase and Transcription

SOM.1ai.BPM1.1.FTM.3.BCHM.MB.10.1 Describe the structural features of a gene and their functions

SOM.1ai.BPM1.1.FTM.3.BCHM.MB.10.2 Describe the types and functions of the four different cellular RNAs (mRNA, tRNA, rRNA, snRNA)
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.10.3 Describe the major steps of RNA synthesis in prokaryotes and eukaryotes
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.10.4 Explain the function and structure of DNA sequences that are involved in the initiation (promoters) and termination of
transcription
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.10.5 Predict the sequence of the transcribed RNA if the template DNA strand or the coding strand of the RNA is provided
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.10.6 List the RNAs that are transcribed by the different types of RNA polymerases in eukaryotes
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.11.3 Describe the major steps of RNA synthesis in prokaryotes and eukaryotes.
Explain the function and structure of DNA sequences that are involved in the initiation (promoters) and termination of
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.11.4
transcription.
Describe the post-transcriptional modifications of eukaryote mRNA and the significance of these modifications (5’ capping,
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.11.9
polyadenylation, and splicing).
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.10.7 Explain how antibiotics and other compounds target and inhibit specific components of the transcription process.
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.8.6 Describe the effect of the antibiotic drugs that interfere with DNA gyrase such as ciprofloxacin

Lecture 10 Post Transcriptional

Modification
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.11.8 Differentiate between the structures of prokaryotic and eukaryotic mRNAs
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.11.9 Describe the post-transcriptional modifications of eukaryote mRNA and the significance of these modifications (5’ capping,
polyadenylation, and splicing)
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.11.10 Predict the effects of splice site mutations on the mature mRNA and ultimately the translated protein

SOM.1ai.BPM1.1.FTM.3.BCHM.MB.11.11 Describe how RNA editing affects our understanding of the transmission of genetic information from the genome to protein

SOM.1ai.BPM1.1.FTM.3.BCHM.MB.11.12 Describe human disease conditions that may be associated with mRNA modification and errors in this process

Lecture 11 Mitosis, Meiosis and non-

disjunction
SOM.1a.BPM1.1.FTM.3.GNET.MB1001 Recognize differences in rates of cell division in different tissues
SOM.1a.BPM1.1.FTM.3.GNET.MB1002 Summarize and distinguish the sequence of events that occur during the phases of the cell cycle: Analyze stages of the cell
cycle - (G1, Go, S, G2, M)
SOM.1a.BPM1.1.FTM.3.GNET.MB1003 Indicate the role of p53 in the cell cycle: Role in genome surveillance and Role in initiation of apoptosis
SOM.1a.BPM1.1.FTM.3.GNET.MB1004 Describe the chromosomal structure changes in different phases of the cell cycle
SOM.1a.BPM1.1.FTM.3.GNET.MB1005 Explain the significance of mitosis, summarize the events, and analyze structures of mitosis including: Prophase: Events in the
nucleus, formation of spindle in cytoplasm, Metaphase: Association of chromosomes with spindle fibres, Anaphase:
Separation of sister chromatids, Telophase: Cytokinesis, re-formation of nuclei
SOM.1a.BPM1.1.FTM.3.GNET.MB1006 Recognize the significance of meiosis and summarize its main achievements
SOM.1a.BPM1.1.FTM.3.GNET.MB1007 Describe the sequence of events that comprise meiosis. Analyze the effect of a nondisjunction of the sex chromosomes in
both male and female gametogenesis. Predict the outcome of nondisjunction if it occurs in either meiosis 1 or in meiosis 2.

SOM.1a.BPM1.1.FTM.3.GNET.MB1008 Interpret the significance of recombination in prophase I. Identify the role of meiosis in gametogenesis. Analyze events and
structures that occur in meiosis
SOM.1a.BPM1.1.FTM.3.GNET.MB1009 Compare and contrast the overall features of mitosis with meiosis
SOM.1a.BPM1.1.FTM.3.GNET.MB1010 Explain how meiosis introduces diversity into the genotype
SOM.1a.BPM1.1.FTM.3.GNET.MB1011 Outline the differences between meiosis in males and females
SOM.1a.BPM1.1.FTM.3.GNET.MB1012 Compare and contrast the outcome of nondisjunction that might occur during meiosis or in mitosis

Lecture 12 Genetic Variation, Genes and

Chromosomes
SOM.1ai.BPM1.1.FTM.1.GNET.GN.0101 Analyze the structure of DNA and discuss how human variation and heredity is controlled by this information storage system

SOM.1ai.BPM1.1.FTM.1.GNET.GN.0102 Compare and contrast different types of repetitive DNA

SOM.1ai.BPM1.1.FTM.1.GNET.GN.0103 Discuss the structure of chromosomes in the human (male and female), and general terminology used to describe karyotypes

SOM.1ai.BPM1.1.FTM.1.GNET.GN.0103 Analyze dosage compensation by X-chromosome inactivation

DLA Mendelian Patterns

Describe basic definitions of human genetics
Describe symbols used in human pedigree construction
From a description or a pedigree, identify autosomal dominant inheritance • •
Calculate recurrence risk of autosomal dominant disorders within families
From a description or a pedigree, recognize autosomal recessive inheritance
Calculate recurrence risk, and carrier risk of autosomal recessive disorders
Discuss the 2/3 rule for AR carrier risk
Describe pseudoatosomal dominance
-Give an example
Describe co-dominance
-Give an example
Describe incomplete dominance
-Give an example
Lecture 13 Mendelian Inheritance: AD
and AR
SOM.1a.BPM1.1.FTM.3.GNET.GN 0201 Compare and contrast Mendelian and non-Mendelian genetics
SOM.1a.BPM1.1.FTM.3.GNET.GN 0202 Interpret a family pedigree incorporating standard genetic symbols. Interpret a pedigree and identify features, disorders,
genotype, carrier status, recurrence risk, and genetic principles
SOM.1a.BPM1.1.FTM.3.GNET.GN 0203 Summarize and distinguish the characteristics of the following patterns of inheritance using pedigrees: autosomal dominant,
autosomal recessive, X-linked dominant and X-linked recessive
SOM.1a.BPM1.1.FTM.3.GNET.GN 0204 Demonstrate how disease liability is transmitted for autosomal dominant diseases, autosomal recessive diseases and X-
linked diseases
SOM.1a.BPM1.1.FTM.3.GNET.GN 0205 Distinguish and explain: locus, gene, allele, genotype, phenotype and zygosity
SOM.1a.BPM1.1.FTM.3.GNET.GN 0206 Propose how the basic risk calculations are performed for the different categories of genetic transmission
SOM.1a.BPM1.1.FTM.3.GNET.GN 0207 Identify obligate carriers in a pedigree: AR, X-linked, or AD with reduced penetrance
SOM.1a.BPM1.1.FTM.3.GNET.GN 0208 Determine the risk that immediate family members might be carriers of disease alleles (AR or X-linked) given that other
members in the family are either known carriers or known affected. Calculate the risk that a sibling of a known affected for an
AR disease will himself be a carrier of the disease allele (2/3)
SOM.1a.BPM1.1.FTM.3.GNET.GN 0209 Distinguish the modes of inheritance of the disorders listed below, be able to identify the main clinical features, and
interpret the genetic principles illustrated by the following common genetic diseases: Autosomal Dominant (Huntington
disease, myotonic dystrophy, familial hypercholesterolemia, osteogenesis imperfecta, Marfan syndrome, Achondroplasia, NF,
acute intermittent porphyria), Autosomal Recessive (CF, PKU, Tay Sachs disease, Sickle cell anemia, thalassemia,
hemochromatosis, homocystineuria, SCID due to ADA deficiency, alkaptonuria), X linked (Hemophilia A and B, G6PD
deficiency, Duchenne and Becker muscular dystrophy, red/green color blindness. Lesch Nyhan syndrome, X-SCID)

SOM.1a.BPM1.1.FTM.3.GNET.GN 0210 Identify pseudodominant inheritance and indicate factors that result in this inheritance pattern. Be able to identify this
concept from clinical scenarios and pedigrees
SOM.1a.BPM1.1.FTM.3.GNET.GN 0211 Define the terms: haploinsufficiency, dominant negative effect, gain of function mutations, loss of function mutations

DLA X - Linked Patterns

Describe some examples of X - linked disorders
Explain how a woman who is a carrier of an X - linked disorder might manifest symptoms of the condition (manifesting
heterozygote)
- Skewed X - inactivation, non - random X – inactivation
Discuss X - linked dominant condition
Compare and contrast variable expressivity and incomplete penetrance
-Give examples of each
Describe pleiotropy
Compare and contrast locus heterogeneity and allelic heterogeneity
-Give examples
Describe locus heterogeneity in terms of complementation groups
Explain how allelic heterogeneity allows the formation of a compound heterozygote in autosomal recessive disorders
Compare and contrast locus heterogeneity and allelic heterogeneity
-Give examples
Describe locus heterogeneity in terms of complementation groups
Explain how allelic heterogeneity allows the formation of a compound heterozygote in autosomal recessive disorders

Lecture 14 X – Linked Inheritance

SOM.1a.BPM1.1.FTM.3.GNET.GN 0401 Summarize and distinguish the characteristics of the following patterns of inheritance using pedigrees: autosomal dominant,
autosomal recessive, X-linked dominant and X-linked recessive
SOM.1a.BPM1.1.FTM.3.GNET.GN 0402 Demonstrate how disease liability is transmitted for autosomal dominant diseases, autosomal recessive diseases and X-
linked diseases
SOM.1a.BPM1.1.FTM.3.GNET.GN 0403 Distinguish the different characteristics of recessive and dominant X-linked traits using pedigrees
SOM.1a.BPM1.1.FTM.3.GNET.GN 0404 Identify obligate carriers in a pedigree: AR, X-linked, or AD with reduced penetrance
SOM.1a.BPM1.1.FTM.3.GNET.GN 0405 Distinguish the modes of inheritance of the disorders listed below, be able to identify the main clinical features, and
interpret the genetic principles illustrated by the following common genetic diseases: X linked (Hemophilia A and B, G6PD
deficiency, Duchenne and Becker muscular dystrophy, red/green color blindness. Lesch Nyhan syndrome, X-SCID)

SOM.1a.BPM1.1.FTM.3.GNET.GN 0406 Differentiate between locus and allelic heterogeneity

SOM.1a.BPM1.1.FTM.3.GNET.GN 0407 Explain what is meant by the term ‘compound heterozygote’
SOM.1a.BPM1.1.FTM.3.GNET.GN 0408 Discriminate and discuss the concept of penetrance and variable expression
SOM.1a.BPM1.1.FTM.3.GNET.GN 0409 Comprehend how the classic pattern of inheritance may be disrupted by incomplete penetrance, variable expressivity and
variable age-of-onset. Be able to identify these concepts from clinical scenarios and pedigrees
SOM.1a.BPM1.1.FTM.3.GNET.GN 0410 Calculate the recurrence risk based on penetrance for autosomal dominant and autosomal recessive disorders
SOM.1a.BPM1.1.FTM.3.GNET.GN 0411 Define pleiotropy with examples. Be able to identify concepts if given a clinical scenario
SOM.1a.BPM1.1.FTM.3.GNET.GN 0412 Recognize occurrence of new mutations as a cause of new genetic diseases in families. Be able to identify this concept from
clinical scenarios and pedigrees
SOM.1a.BPM1.1.FTM.3.GNET.GN 0413 Explain the phenomenon of germinal (germ-line) mosaicism
SOM.1a.BPM1.1.FTM.3.GNET.GN 0414 Identify genetic disorders that have a delayed age of onset, and be able to identify this concept from clinical scenarios and
pedigrees
SOM.1a.BPM1.1.FTM.3.GNET.GN 0415 Explain the phenomenon of a manifesting heterozygote in X-linked recessive disorders, and be able to identify this concept
from clinical scenarios and pedigrees
DLA & Lecture 15 Translation and Post
Translational Modification
SOM.1a.BPM1.1.FTM.3.BCHM.MB.1101 Explain why the genetic code is collinear with DNA, triplet in nature, redundant (degenerate), and non-overlapping.
SOM.1a.BPM1.1.FTM.3.BCHM.MB.1102 Define the terms: reading frame and frame-shift mutation.
SOM.1a.BPM1.1.FTM.3.BCHM.MB.1103 Translate and interpret the standard genetic code table and be able to identify the initiation codon as well as the 3
terminator codons.
SOM.1a.BPM1.1.FTM.3.BCHM.MB.1104 Explain the universal nature of the genetic code (with minor differences in mitochondria) and predict the sequence of a
peptide if the coding strand of the DNA is provided.
SOM.1a.BPM1.1.FTM.3.BCHM.MB.1105 Discuss how protein synthesis proceeds from the N-terminal to their C-terminal ends and explain how this creates a naming
convention for peptides.
SOM.1a.BPM1.1.FTM.3.BCHM.MB.1106 List and describe the major function of the major types of RNA in cells, including mRNA, tRNA, rRNA, snRNA, snoRNA, miRNA.

SOM.1a.BPM1.1.FTM.3.BCHM.MB.1107 Describe the subunit composition and the basic structure of prokaryotic 70S and eukaryotic 80S ribosomes, including the
basis for their names and be able to identify the A site, the P site, and the E site on the ribosome.
SOM.1a.BPM1.1.FTM.3.BCHM.MB.1108 Describe the structure, function, and charging of tRNAs.
SOM.1a.BPM1.1.FTM.3.BCHM.MB.1109 Describe the codon/anticodon interaction and discuss the wobble hypothesis.
SOM.1a.BPM1.1.FTM.3.BCHM.MB.1201 Describe the sequence of events that occurs during translation in prokaryotes (initiation, elongation and termination) and list
the major differences between prokaryotic and eukaryotic translation.
SOM.1a.BPM1.1.FTM.3.BCHM.MB.1202 Explain how diphtheria toxin interferes with eukaryotic translation and explain the mode of action of common antibiotics
that interfere with translation: Initiation inhibitors (streptomycin), Elongation inhibitors (Tetracycline, chloramphenicol,
erythromycin, puromycin, cycloheximide).
SOM.1a.BPM1.1.FTM.3.BCHM.MB.1203 List and review the major types of post-translational modifications: Zymogen activation (trypsinogen à trypsin as example),
Serine/threonine phosphorylation (regulation of enzymes in metabolism), Tyrosine phosphorylation (Insulin receptor as an
example), O-linked glycosylation, N-linked glycosylation and Lipid anchoring (e.g. farnesyl groups to RAS).

SOM.1a.BPM1.1.FTM.3.BCHM.MB.1204 Describe proteolytic processing using insulin as an example.

DLA Properties of Amino Acids

SOM.1a.BPM1.1.FTM.3.BCHM.BT.0401 Describe the general structure and stereochemistry of amino acids.
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0402 Classify amino acids based on their R groups (with examples for each group).

SOM.1a.BPM1.1.FTM.3.BCHM.BT.0403 Name the amino acids with a charged side chain, the amino acids containing a hydroxyl group and the amino acids containing
sulphur.
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0404 Discuss the acid/base properties of amino acids with the aid of a graph (e.g. histidine).
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0405 Discuss the role of histidine residues in buffering in haemoglobin.
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0406 Describe the concept of the formation of biological active amines
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0407 Discuss the biomedical importance of derivatives of amino acids (GABA, histamine, serotonin and catecholamines).
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0408 Describe the main features of the peptide bond.

Lecture 16 Structure and Function of

Proteins
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0501 Outline the general functions of proteins.
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0502 Discuss in general the synthesis of proteins and the concept of formation of peptide hormones from precursor proteins.

SOM.1a.BPM1.1.FTM.3.BCHM.BT.0503 Differentiate between the hierarchical levels of protein structure.

SOM.1a.BPM1.1.FTM.3.BCHM.BT.0504 Discuss the significance of bond forces involved in maintenance of protein structure (covalent bonds and hydrogen bonds,
ionic bonds, hydrophobic forces and Van der Waals forces).
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0505 Describe the structure of insulin.
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0506 Define secondary structures including α-helix and β-pleated sheet.
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0507 Discuss the change of the protein secondary structure in Prion disease.
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0508 Describe the role of chaperone proteins in protein folding.
SOM.1a.BPM1.1.FTM.3.BCHM.BT.0509 Discuss protein denaturation in vivo and in the laboratory.

Lecture 17 Unexpected Events in

Inheritance
SOM.1a.BPM1.1.FTM.3.GNET.GN 0601 Describe the genetic abnormalities that may result in a non-Mendelian pattern of inheritance
SOM.1a.BPM1.1.FTM.3.GNET.GN 0602 Disorders due to mutations in mitochondrial genes: Leber hereditary optic neuropathy (LHON), MELAS, MERRF
SOM.1a.BPM1.1.FTM.3.GNET.GN 0603 Identify the phenomenon of heteroplasmy in mitochondrial disorders and indicate its genetic basis
SOM.1a.BPM1.1.FTM.3.GNET.GN 0604 Predict the effect of imprinting in the transmission of genetic disease
SOM.1a.BPM1.1.FTM.3.GNET.GN 0605 Identify imprinting defects (Prader Willi syndrome, Angelman syndrome)
SOM.1a.BPM1.1.FTM.3.GNET.GN 0606 Explain the phenomenon of uniparental disomy and microdeletion in Prader-Willi and Angelman syndrome
SOM.1a.BPM1.1.FTM.3.GNET.GN 0607 Analyze how triplet repeat expansion mutations result in anticipation which and how this may be thought about as a non-
Mendelian aspect to the inheritance of the disorder (Huntington disease, myotonic dystrophy, Fragile X syndrome)

SOM.1a.BPM1.1.FTM.3.GNET.GN 0608 Recognize the phenomenon of anticipation and its genetic basis. Identify this concept from clinical scenarios and pedigrees

SOM.1a.BPM1.1.FTM.3.GNET.GN 0609 Explain the phenomenon of digenic inheritance using retinitis pigmentosa as an example
SOM.1a.BPM1.1.FTM.3.GNET.GN 0610 Determine a strategy for identifying Non-Mendelian disorders, investigating them and providing appropriate genetic
counselling for the families
Week 3 February 4th - February 8th
DLA Molecular Diagnosis and Lecture 18
The Use of Molecular Genetics in
Medicine
SOM.1a.BPM1.1.FTM.3.BCHM.MB.1301 Identify the differences between the structure of DNA versus RNA and Protein and which structures are affected in the
diseased state
SOM.1a.BPM1.1.FTM.3.BCHM.MB.1302 Explain the concept of hybridization between two complementary single stranded DNA molecules and which class of
mutation is being investigated
SOM.1a.BPM1.1.FTM.3.BCHM.MB.1303 Explain the general principles and utilization of the various molecular biology techniques
SOM.1a.BPM1.1.FTM.3.BCHM.MB.1304 Summarize how a DNA fragment is cloned into a vector molecule and how different vectors are used for different purposes
such as DNA replication, expression and sequencing
SOM.1a.BPM1.1.FTM.3.BCHM.MB.1401 Compare data from RFLP, ASO, DNA sequencing and allele specific PCR: from normal homozygotes, carriers (heterozygotes)
and affected homozygotes
SOM.1a.BPM1.1.FTM.3.BCHM.MB.1402 Predict the application of molecular biology techniques for detection of a single base mutation versus small insertion or
deletion of DNA sequence, and changes in the expression of genes in the form of mRNA or protein.

Lectures 19 Signal Transduction

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.06.01 Describe the different types of cell signalling: endocrine, autocrine, paracrine, neuronal & contact-dependent.

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.06.02. Describe the different types of extracellular signal molecules.

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.06.03 Discuss the events involved in signal transduction

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.06.04. Indicate the four different classes of receptors (steroid receptors, ion-channel receptor, receptor enzyme, G-protein-coupled
receptors) with specific examples for each class.

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.06.05. Indicate the role of G-protein subunits (Gs, Gi, Gq).

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.06.06. Describe the different target (effector) enzymes of G proteins.

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.06.07. Describe the two major second messenger systems (adenylate cyclase and phosphoinositide systems) associated with G-
proteins and signal termination.

Lectures 20 G-protein Coupled

Receptors (GPCR)
SOM.1ai.BPM1.1.FTM.3.BCHM.CP.06.05. Indicate the role of G-protein subunits (Gs, Gi, Gq).

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.06.06. Describe the different target (effector) enzymes of G proteins.

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.06.07. Describe the two major second messenger systems (adenylate cyclase and phosphoinositide systems) associated with G-
proteins and signal termination.

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.06.08. Explain how cholera toxin modifies Gs and how pertussis toxin modifies Gi. Predict the effects of these modifications in the
respective cells.

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.07.09. Discuss the roles of cAMP, IP3 and DAG as mediators of signal transduction in different cell types.

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.07.10. Indicate the action of phosphodiesterase.

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.07.11. Describe the activation of adenylate cyclase and phospholipase C by the respective G proteins.

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.07.12. Describe formation of cGMP and its biological role. Indicate the function of guanylate cyclase.

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.07.13. Identify the mechanism of action of nitric oxide and their role in smooth muscle relaxation and vasodilatation. Indicate the
formation of nitric oxide from nitroglycerin.

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.07.14. Compare and contrast the activation of protein kinases A and C.

SOM.1ai.BPM1.1.FTM.3.BCHM.Cp.07.15. Identify the signalling mechanisms associated with α and β adrenergic receptors, glucagon receptors and insulin receptors.

SOM.1ai.BPM1.1.FTM.3.BCHM.CP.07.16. Predict the changes when an inhibitor of a specific signalling pathway is used.
DLA Genomics
Explain how triplet repeat expansion disorders are diagnosed
Discuss why each triplet repeat expansion disorder needs its own unique test for diagnosis
Explain how a G-band karyotype is prepared
Describe FISH and how it can be used in diagnostic applications
Compare and contrast
-Metaphase FISH
-Interphase FISH
-Chromosome painting (SKY FISH)
Consider the relative pros and cons of these techniques, and their limits of resolution
Describe the strategy behind the microarray
-CGH Microarray
-SNP Microarray
-cDNA Microarray

Lecture 21 Use of Genomics in Diagnosis

SOM.1a.BPM1.4.FTM.2.GNET.GN.0702 Analyze how PCR can be used to obtain a diagnosis of a genetic disorder
SOM.1a.BPM1.4.FTM.2.GNET.GN.0703 Analyze genomic approaches that are used in the diagnosis of human disorders
SOM.1a.BPM1.4.FTM.2.GNET.GN.0704 Describe the different types of mutations that may be observed in the human genome and explain how they are categorized.

Lecture 22 Genetics and Genomics Cases

- Objectives from previous lectures

DLA Properties of Enzymes

SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0601 Outline the properties of enzymes and the chemistry of the active site.
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0602 Discuss the significance of coenzymes and apoenzymes.
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0603 Describe the role of enzymes related to the activation energy and delta G of a reaction with the aid of a graph.
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0604 Describe the factors that influence enzyme reaction rates (substrate, pH and temperature).
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0705 Discuss enzyme regulation via the concentrations of substrates or products.
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0706 Describe enzyme regulation via the modulation of enzyme concentrations.
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0707 Discuss conformation of enzymes and changes of conformation in relation to enzyme regulation. (reversible covalent
modification, proteolytic cleavage and allosteric regulation).
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0708 Describe the concept of proteolytic activation of digestive enzymes (eg: zymogens such as trypsinogen).
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0709 Discuss the kinetics of allosteric enzymes and explain the sigmoidal graph.
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0710 Describe allosteric enzymes and their regulation related to changes of K 0.5 or Vmax. Discuss in general the regulation of
metabolic pathways related to feedback inhibition and feed-forward activation.

Lecture 23 Enzymes
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0601 Outline the properties of enzymes and the chemistry of the active site.
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0602 Discuss the significance of coenzymes and apoenzymes.
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0603 Describe the role of enzymes related to the activation energy and delta G of a reaction with the aid of a graph.
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0604 Describe the factors that influence enzyme reaction rates (substrate, pH and temperature).
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0605 Describe Michaelis-Menten kinetics
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0606 Define Km and Vmax and discuss their significance with the help of a graph.
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0607 Discuss the inhibition caused by statin drugs (enzyme inhibited, biochemical effect).
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0608 Compare and contrast the mode of action and kinetics of reversible competitive and noncompetitive inhibitors.
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0609 Discuss the graph of Michelis-Menten and compare it to Lineweaver-Burk.
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0610 Indicate in the Lineweaver-Burk plot the intercepts with the y-axis and x-axis
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0701 Graphically differentiate competitive and noncompetitive inhibition
using the Michaelis-Menten graph and the Lineweaver-Burk plot.
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0702 Distinguish between reversible and irreversible inhibitors.
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0703 Discuss the inhibition caused by DFP and aspirin (enzymes
inhibited, biochemical effects of inhibition).
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0704 Discuss suicide inhibition of enzymes using allopurinol as example.
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0705 Discuss enzyme regulation via the concentrations of substrates or products.
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0706 Describe enzyme regulation via the modulation of enzyme concentrations.
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0707 Discuss conformation of enzymes and changes of conformation in relation to enzyme regulation. (reversible covalent
modification, proteolytic cleavage and allosteric regulation).
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0708 Describe the concept of proteolytic activation of digestive enzymes (eg: zymogens such as trypsinogen).
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0709 Discuss the kinetics of allosteric enzymes and explain the sigmoidal graph.
SOM.1ai.BPM1.1.FTM.3.BCHM.BT.0710 Describe allosteric enzymes and their regulation related to changes of K 0.5 or Vmax. Discuss in general the regulation of
metabolic pathways related to feedback inhibition and feed-forward activation.
Lecture 24 Clinical Enzymology
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.1601 Discuss how inherited enzyme deficiencies and
nutritional deficiencies may result in disease.
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.1602 Discuss the effects of necrosis and inflammation on serum enzyme levels.

SOM.1ai.BPM1.1.FTM.3.BCHM.MB.1603 Describe the structure and function of isozymes in general.

SOM.1ai.BPM1.1.FTM.3.BCHM.MB.1604 Differentiate the isozymes of creatine kinase and lactate dehydrogenase based on tissue location
and subunit composition.
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.1605 Discuss the utility of serum injury markers following myocardial infarction: Use of CK-MB/total CK ratio for MI evaluation.

SOM.1ai.BPM1.1.FTM.3.BCHM.MB.1606 Discuss the utility of serum injury markers following MI: Use of serum cardiac troponins I and T as markers.

SOM.1ai.BPM1.1.FTM.3.BCHM.MB.1607 Discuss the utility of serum injury markers following MI: Time frame of serum injury markers (myoglobin, cardiac troponins,
CK-MB) with the help of a graph.
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.1608 Describe the application of sALT, sAST, sALP and sGGT as markers of hepatocellular disease, biliary disease and alcohol liver
disease.
SOM.1ai.BPM1.1.FTM.3.BCHM.MB.1609 Discuss the significance of serum amylase and serum lipase related to pancreatic disease.

SOM.1ai.BPM1.1.FTM.3.BCHM.MB.1610 Indicate specific serum injury markers for bone disease (sALP), prostate cancer (PSA) and liver cancer (alpha-fetoprotein).

Lecture 25 Cell Adaptation

SOM.1ai.BPM1.1.FTM.3.HCB.MB.1501 Outline the cellular responses to stress or injury.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.1502 Compare physiological vs. pathological responses.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.1503 Discuss common causes of cell injury.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.1504 Discuss the cellular systems affected by injury.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.1505 Compare reversible vs. irreversible injuries.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.1506 Describe the early cellular responses to injury.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.1507 Explain how organs increase in functional cell mass.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.1508 Define the term “hypertrophy” and list examples.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.1509 Define the term “hyperplasia” and list examples.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.1510 Define the term “atrophy” and list examples.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.1511 Define the term “involution” and list an example.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.1512 Define the term “metaplasia” and list examples.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.1513 Define the terms “failure of differentiation” and “cellular atypia”.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.1514 Define the terms “dysplasia” and “neoplasia” and list examples.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.1515 Compare and contrast benign vs. malignant neoplasms.
SOM.1ai.BPM1.1.FTM.3.HCB.MB.1516 Define the terms “carcinoma in situ” and “invasion”.