M.Sc.

Human Genomics Syllabus 2018

SEMESTER I

Paper-I (MHG-101) Foundation Course

Objective of the paper: To bring all the students from different streams to one level so that they
all have minimum basic understanding required for further specialized genomics understanding.

Unit-I Biostatistics
Basic concepts of Statistics; Statistics in Epidemiological Studies; Quantitative & Qualitative
data; Data & descriptive measures; Standardizing Rates; Probability; Random Variables &
Probability Distribution, Estimation & Hypothesis Testing; Sample Size, Design; Experimental
Study; Measures of Association among variables.

Unit-II Immunology
Types of immunity; Innate immunity (Anatomical barriers, phagocytosis, inflammatory
responses); Interaction between innate & adaptive immune system; Cells & Organs of immune
system; Antibody structure and function; Antigen-Antibody interactions; T & B- Cell maturation
and activation; Complement System.

Unit-III Developmental Biology

Genotype –phenotype relationship; Gene regulation in early development: anterior-posterior and
dorso-ventral development of Drosophila, Mammalian limb development; Signaling and
adhesion molecules; epigenetic influence of gene expression pathways.

Unit-IV Molecular Biology

DNA polymerases, Priming and DNA synthesis, DNA Repair, DNA Replication in prokaryote
and eukaryotes; Overview of transcription in prokaryotes and eukaryotes, Basal Transcription
Machineries, components and transcription factors; Genetic Code, Ribosome structure
(prokaryotic & eukaryotic), Description of initiation, elongation and termination steps of
translation in prokaryotes and eukaryotes.

Recommended Books

Merrill, Ray M 2013 Fundamentals of epidemiology and biostatistics, Jones & Bartlett
Oliveira A. Gouveia, 2013, Biostatistics Decoded, Wiley
Baldi B., Moore S. D, 2012, The Practice of statistics in the Life Sciences 2nd edition, Freeman
Rastogi, Veer Bala, 2015, Biostatistics 3rd edition, Medtec
Abbas, Abul K., 2012, Cellular and molecular immunology 7th edition, Elsevier
Owen, Judith A., 2013, Kuby immunology 7th edition, Freeman
Dydtard, Peter., 2012, Immunology 3rd edition, GS
Gilbert, Scott F., 2014, Development biology 10th edition, Sinauer
Slack, J.M.W., 2013, Essential development biology 3rd edition, Wiley-Blackwell
Schekman, Randy, (ed.), 2009, Annual review of cell and development biology vol. 25, AR
Creighton, Thomas E., 2010, Physical and chemical basis of molecular biology, Helvetian Press
Watson, James D.,2014, Molecular biology of the gene 7th edition, Pearson
Cox, Michael M., 2012, Molecular biology 1st edition, Freeman

Paper-II (MHG-102): Cell Biology

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M.Sc. Human Genomics Syllabus 2018

Objective of the paper: To give students a thorough understanding of cell biology’s fundamental
topics along with advanced knowledge of stem cells and their application in various disease
states.

Unit-I Biological Membranes and Transport

Evolution of membrane, composition of membranes, micelles, liposomes and lipid bilayers,
structure of biological membrane, membrane fluidity and its regulation; structural and functional
asymmetry of membrane; Membrane bound proteins - structure, properties and function;
membrane channels, and pores, membrane transport proteins, electrochemical potential driven
transports, Active transport, pore forming toxins and ionophores, clinical correlations.

Unit-II Metabolism
Origin of thermodynamics, First law of thermodynamics, entropy and second law of
thermodynamics, free energy, standard free energy, non standard free energy change, near
equilibrium and metabolically irreversible reactions, ATP, energy coupling concept of metabolic
pathways; thermodynamics of phosphate compounds; oxidation-reduction reactions; integration
of metabolic pathways.

Unit-III Cell Communication and Signaling

Cell communication, Intracellular receptor l and cell surface receptors, Signaling via G-protein
linked receptors (PKA, PKC, CaM kinase), Enzyme linked receptor signaling pathways,
Network and cross-talk between different signal mechanisms, Programmed & Non programmed
Cell Death.

Unit-IV Stem Cells

Introduction to Cell Structure, Stem Cells and Embryonic Stem cells; Concepts of Cell & tissue
culture, totipotency and pluripotency; Identification, isolation and characterization of stem cells;
Ethical issues related to stem cell research; Applications and tissue engineering in stem cells
(Parkinson’s & Alzheimer’s Disease); tissue system Failures (Diabetes, cardiomyopathy, kidney
failure).

Recommended Books
Cox, Michael M; 2012, Molecular Biology, W.H.Freeman.
Berg, Jeremy M; 2012; 7th ed, Biochemistry; W.H.Freeman
Nelson, David L, 2013 6 th ed; Principles of Biochemistry, W.H. Freeman
Alberts, Bruce., 2014, Essential cell biology 4th edition, GS
Buehler, Lukas K., 2016, Cell membranes, GS
Voet, Donald., 2014, Principles of biochemistry 4th edition, Wiley
Lodish, Harvey., 2013, Molecular cell biology 7th edition, Freeman
Hancock, John T., 2010, Cell signaling 3rd edition, Oxford
Alberts, Bruce., 2008, Molecular biology of the cell 5th edition, GS
Stein, Gary S., 2011, Human stem cell technology and biology , Wiley
Lanza, Robert, 2009, Essential stem cell methods, Academic Press
Mummery, Christine., 2011, Stem cell, Academic Press

Paper-III (MHG-103): Genetics

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M.Sc. Human Genomics Syllabus 2018

Objective of the paper: Students should get well versed with various basic aspects of genetics,
right from beginning (when chromosomes were not discovered) to chromosomal existence and
their structure-function relationship.

Unit-I Basic Genetics

Mendelian Genetics; Applications of Mendel’s principles; Rediscovery & Extension of Medelian
genetics (Incomplete dominance, Co-dominance, Multiple alleles, Lethal alleles, Epistasis,
Pleiotropy); Chromosomal theory of inheritance; Extranuclear inheritance; Pedigree conventions
& analysis; X-linkage in drosophila, humans & sex linked traits, Complications to basic patterns
of inheritance (Pseudo-dominance, Late-onset, Anticipation, Male lethality, Mosaicism,
Chimerism).

Unit-II Population Genetics

Relevance of population genetics; Concepts of Alleles, Genotypes and haplotype; Hardy
Weinberg Equilibrium Principle; Testing for HWE; Extensions of HW principle; factors
affecting allelic frequency; Natural selection & allele frequency; dynamics of genes in
population; genetic admixture; Population in genetic equilibrium (Balancing selection; Mutation-
selection balance; Mutation-drift balance)

Unit-III Cytogenetics
DNA organization in chromosomes (structure: Bacterial, Polytene & Lampbrush); Eukaryotic
(Nucleosome to chromatin, Centromere & kinetochore structure; Telomere structure &
maintenance; Origin of Replication; Euchromatin & heterochromatin); Chromosome mapping in
Drosophila (Crossing over & Genetic distance); Types of Chromosomal Anomalies; Analytical
techniques: Banding, karyotype, Molecular (FISH; chromosomal painting; Spectral karyotyping)

Unit-IV Model Genetic Systems

Life cycles and advantages of organisms commonly used in genetic studies: T4 and λ phages,
Neurospora, E.coli, Saccharomyces cerevisea and Schizosaccharomyces pombe,
Caenorhabditis, Drosophila, Zebra fish, Mouse, Mammalian models, their disadvantages and
ethical concerns; Conventions of nomenclature of genes and gene products in different model
systems.
Recommended Books
Saccone Cecilia, Pesole Graziano, 2003, Handbook of comparative Genome: Principles and
Metholdology, Wiley-Liss
Jorde, Carey, Bamshad, 2010, Medical Genetics, 4th edition, Mosby Elsevier
Snustand D. Peter, Simmons Michael J., 2012, Genetics, 6th edition, Wiley
King, Cummings, Spencer, 2012, Concepts of Genetics, 10th edition, Pearson
Turnpenny Peter, Ellard Sian, 2012, Emery’s Elements of Medical Genetics, 4th edition, Elsevier
Hartl Daniel L. & Clark Andrew G., 2007, Principles of Population Genetics, 4th edition, Sinauer
Hartl Daniel L., 2000, A Primer of Population Genetics, 3rd edition, Sinauer
Nielsen Rasmus, Slatkin Montgomery, 2013, An introduction to Population Genetics: Theory
and Application, Sinauer
Sanders Mark F., Bowman John L., 2012, Genetic Analysis, Pearson
Gardner, R.J., 2004, Chromosome abnormalities and genetics counseling 3rd edition, Oxford
Lodish, Harvey., 2013, Molecular cell biology 7th edition, freeman
International Standing Committee on Human Cytogenetic Nomenclature. ISCN 2013
Paper-IV (MHG-104): Analytical Techniques
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M.Sc. Human Genomics Syllabus 2018

Objective of the paper: To make students understand the basics of various analytical techniques
used in almost all fields of biology, so they can practice this in future with confidence.

Unit-I Chromatographic and Electrophoretic Techniques

Chromatographic methods for macromolecule separation –theoretical basis of chromatography,
partition coefficient; Gel permeation chromatography, Ion exchange chromatography,
Hydrophobic interaction chromatography, IEF, Reverse-phase chromatography, HPLC and
Affinity chromatography, Gas-liquid chromatography; Theory of Polyacrylamide and Agarose
gel electrophoresis: PAGE (Native and SDS), gradient gels, sequencing gels, EMSA.

Unit-II Spectroscopy and Centrifugation

Fundamental aspects of spectroscopy: electronic transitions, vibrational and rotational
transitions; Theory and application of UV and Visible Spectroscopy: beer lamberts law,
chromophores, intrinsic and extrinsic, absorption spectroscopy of proteins and nucleic acids
difference spectroscopy, solvent perturbation effects; Fluorescence: basic principle, distinction
from absorption; intrinsic and extrinsic fluors, applications of fluroscence spectroscopy of
proteins, FRET, Luminescence and chemiluminescence; basic theory of Circular Dichroism; CD
of proteins, Dynamic light scattering, Centrifugation: basic theory (RCF, Sedimentation
coefficient); applications; Radioisotopes and their use in biology.

Unit-III Microscopy and its Application

Light and phase contrast microscopy, fluorescent microscopy, Electron microscopy (TEM and
SEM), Confocal microscopy, Flowcytometry (FACS), Histochemical and Immuno-histochemical
methods, LASER capture methodology, Atomic force microscopy.

Unit-IV Molecular Tools and their Applications

Primer design; Fidelity of thermostable enzymes; DNA polymerases; Types of PCR (multiplex,
nested, reverse transcriptase, Real time PCR, Touchdown PCR, hot start PCR, colony PCR);
cloning of PCR products; PCR in molecular diagnostics; PCR based mutagenesis; T-vectors;
Proof reading enzymes; Site specific mutagenesis.

Recommended Books
Freifelder, David Physical Biochemistry, W.H. Freeman.
Roe, Simon, 1999, Protein Purification Techniques, Oxford University Press.
Spangler, Brends D; 2002. Methods in Molecular Biology and Protein Chemistry, Wliey & Sons.
Sheehan, David., 2009, Physical biochemistry 2nd edition, wiley-Blackwell
Hames, David., 2011, Biochemistry 4th edition, GS
Creighton, Thomas E., 2010, Physical and chemical basis of molecular biology, Helvetian Press
Thomas E., 2010, Biophysical chemistry of nucleic acids and proteins , Helvetian Press
Cutler, Paul, ed., 2004, Protein purification protocols 2n edition, Human Press
Bustin, Stephen a., 2010, PCR revolution, Cambridge
Hughes, S. Moody A., 2007, PCR, Scion
Brown, T.A., 2016, Gene cloning and DNA analysis 7th edition, Wiley-Blackwell
Dracopoli, Nicholas C., 2004, Short protocols in human genetics, wiley