CORE COURSES

COURSE MHG C 101: Transmission Genetics (3 + 1 Credits)

1	Introduction to Genetics	1
2	Mendelism	9
	2.1 Mendel and his experiments 2.2 Law of segregation 2.3 Law of independent assortment 2.4 Application of laws of probability (product rule, sum rule) 2.5 Chromosomal basis of segregation and independent assortment
3	Chi-square test and its application in analysis of genetic data	1
4	Extensions of Mendelism	9
	4.1 Allelic variation and gene function- Dominance relationships, basis of dominant and recessive mutations 4.2 Multiple allelism, allelic series 4.3 Testing gene mutations for allelism: complementation test, intragenic complementation 4.4 Visible, sterile and lethal mutations 4.5 Genotype to phenotype: effect of the environment on phenotype development- Penetrance and expressivity, phenocopy 4.6 Gene interactions and modifying genes 4.7 Pleiotropy
5	Sex-linked inheritance, Linkage and crossing over	10
	5.1 Genetic recombination and construction of genetic maps in Drosophila 5.2 Interference and coincidence 5.3 Cytological demonstration of crossing over in Drosophila 5.4 Mitotic recombination 5.5 Intragenic recombination
6	Inheritance of quantitative traits	6
	6.1 Continuous and discontinuous variation 6.2 Polygenic inheritance 6.3 Genetic variance, heritability (narrow sense and broad sense)
7	Cytoplasmic inheritance, maternal effects, inheritance due to parasites and symbionts	3

Recommended Books
1	Atherly et al	The Science of Genetics	Saunders	1999
2	Brooker	Genetics – Analysis and Principles	Benjamin/Cumings	1999
3	Fairbanks et al	Genetics	Wadsworth	1999
4	Gardner et al	Principles of Genetics	John Wiley	1991
5	Griffiths et al	Modern genetic Analysis	Freeman	2002
6	Griffiths et al	An Introduction to Genetic Analysis	Freeman	2004
7	Hartl and Jones	Genetics – Principles and Analysis	Jones & Bartlett	1998
8	Snustad et al	Principles of Genetics	Wiley and sons	1998
9	Strickberger	Genetics	Mcmillan	1985
10	Tamarin	Principles of Genetics	WCB	1996

COURSE MHG C 102: Basic Human Genetics (3 + 1 Credits)

1	History of Human Genetics	1
2	Pedigrees- gathering family history, pedigree symbols, construction of pedigrees, presentation of molecular genetic data in pedigrees	1
3	Monogenic traits	12
	3.1 Autosomal inheritance-dominant, recessive 3.2 Sex-linked inheritance 3.3 Sex-limited and sex-influenced traits 3.4 Mitochondrial inheritance 3.5 MIM number 3.6 Complications to the basic pedigree patterns- nonpenetrance, variable expressivity, pleiotropy, late onset, dominance problems, anticipation, genetic heterogeneity, genomic imprinting and uniparental disomy, spontaneous mutations, mosaicism and chimerism, male lethality, X-inactivation 3.7 Risk assessment; application of Bayes’ theorem 3.8 Allele frequency in population 3.9 Consanguinity and its effects
4	Complex traits	10
	4.1 Approaches to analysis of complex traits- ‘Nature vs nurture’, role of family and shared environment, monozygotic and dizygotic twins and adoption studies 4.2 Polygenic inheritance of continuous (quantitative) traits, normal growth charts, Dysmorphology 4.3 Polygenic inheritance of discontinuous (dichotomous) traits- threshold model, liability and recurrence risk 4.4 Genetic susceptibility in multifactorial disorders (alcoholism, diabetes mellitus, obesity) 4.5 Estimation of genetic components of multifactorial traits: empiric risk, heritability, coefficient of relationship
5	Human cytogenetics	10
	5.1 Techniques in human chromosome analysis (including molecular techniques) 5.2 Human karyotype: banding, nomenclature of banding 5.3 Pathology of human chromosomes 5.4 Nomenclature of aberrant karyotypes 5.5 Common syndromes due to numerical chromosome changes 5.6 Common syndromes due to structural alterations (translocations, duplications, deletions, microdeletion, fragile sites) 5.7 Common chromosome abnormalities in cancer 5.8 Genetics of fetal wastage
6	Pharmacogenetics and ecogenetics, teratogenetics	5

Recommended Books
1	Connor & Smith	Essentials of Medical Genetics	Blackwell	1993
2	Davies	Human Genetic Disease Analysis	IRL	1993
3	Emery and Mueller	Elements of Medical Genetics	ELBS	1992
4	Gersen & Keagle	The Principles of Clinical Cytogenetics	Humana	1999
5	Jorde et al	Medical Genetics	Elsevier	1998
6	Korf	Human Genetics	Blackwell	1996
7	Lewis	Human Genetics	WCB	1999
8	Mange and Mange	Basic Human Genetics	Sinauer Assoc	1999
9	Maroni	Molecular and Genetic Analysis of Human Traits	Blackwell	2001
10	Nussbaum et al	Genetics in Medicine	Saunders	2001
11	Pasternak	An Introduction to Molecular Human Genetics	Fritzgarald	2000
12	Prichard & Korf	Medical Genetics at a glance	Blackwell	2004
13	Strachan and Read	Human Molecular Genetics	Wiley	1999
14	Vogel and Motulsky	Human Genetics	Springer	1997

COURSE MHG C 103: Cell Biology (2.5 + 1 Credits)

1	Plasma Membrane: Fluid mosaic model, structure of membrane, transport across membrane and mechanisms of endocytosis and exocytosis	4
2	Endomembrane system	5
	2.1. General organization of protein transport within and outside the cell 2.2. Protein sorting and secretion 2.3. Mechanism of intracellular digestion
3	Cytoskeleton	4
	3.1. Microfilaments: Structural organization, cell motility and cell shape 3.2. Microtubule: Structural and functional organization, cilia, flagella, centriole 3.3. Intermediate filaments
4	Mitochondria	10
	4.1 Ultrastructure 4.2 Chemiosmotic theory and respiratory chain complexes
5	Structure and function of peroxisome	1
6	Structure and biosynthesis of ribosome	2
7	Cell cycle and its regulation	2
8	Cell-Cell Interaction	5
	8.1. Cell adhesion molecules 8.2. Cellular junctions 8.3. Extracellular matrix
9	Signal transduction	5
	9.1. Intracellular receptor and cell surface receptors 9.2. Signalling via G-protein linked receptors (PKA, PKC, CaM kinase) 9.3. Enzyme linked receptor signaling (Growth factor receptor signaling; JACK-STAT pathway) 9.4. Network and cross-talk between different signal mechanisms
10	Programmed cell death	1

Recommended Books
1	Alberts et al	Essential Cell Biology	Garland	1998
2	Alberts et al	Molecular Biology of the Cell	Garland	2002
3	Cooper	The Cell: A molecular Approach	ASM Press	2000
4	Gilbert	Developmental Biology	Saunders	2003
5	Jeremy et al	Biochemistry	Freeman	2002
6	Karp	Cell and Molecular Biology	John Wiley	2002
7	Lewin	Genes VIII	Pearson	2004
8	Lodish et al	Molecular Cell Biology	Freeman	2004
9	Pollard &Earnshaw	Cell Biology	Saunders	2002
10	Tobin and Morcel	Asking about Cells	Saunders	1997
11	Wilson & Hunt	The Cell: A Problems Approach	Garland	2002

COURSE MHG C 104: Molecular Genetics I (2.5 + 0.5 Credits)

1	Properties and evolution of genetic material, flow of genetic information		2
2	Organization of viral and bacterial genomes
3	Eukaryotic genome		5
	3.1 C-value paradox 3.2 Repetitive DNA 3.3 General concept of a gene 3.4 Gene families 3.5 Non-coding genes
4	Replication in bacterial and eukaryotic chromosomes		5
	4.1 DNA polymerases 4.2 Replicons, origin and termination 4.3 Replisome 4.4 Genes controlling replication
5	Transcription		5
	5.1 Prokaryotic RNA polymerase, sigma factors, initiation and termination 5.2 Eukaryotic RNA polymerases and their promoters 5.3 Processing of transcripts
6	Translation		2
	6.1 General mechanism 6.2 Role of rRNA in translation
7	Regulation of gene expression		11
	7.1. Regulation of transcription initiation
		7.1.1. Operon and regulon 7.1.2. Positive and negative regulation 7.1.3. Enhancers and promoters 7.1.4. Transcription factors: types, DNA binding motifs
	7.2. Regulation by attenuation and anti-termination
	7.3. Post transcriptional regulation
		7.3.1. Alternative splicing 7.3.2. Transport and targeting of RNA 7.3.3. Post-transcriptional gene silencing
	7.4. Translational control and targeting of proteins 7.5. Mechanism of steroid hormone and stress induced gene expressions

Recommended Books
1	Alberts et al	The Science of Genetics	Saunders	1999
2	Benjamin	Genetics: A Conceptual Approach	Freeman	2003
3	Berg and Singer	Genes and Genome		1998
4	Black	Microbiology: Principles and Explorations	Wiley	2002
5	Dale & Schartz	From genes to Genome	Wiley & Sons	2003
6	Griffiths et al	Modern Genetic Analysis	Freeman	2002
7	Griffiths et al	An Introduction to Genetic Analysis	Freeman	2004
8	Hartl et al	Essential Genetics	Wiley & Sons	2002
9	Klug & Cummings	Essentials of Genetics	Prentice Hall	2003
10	Latchman	Gene Regulation	Chapman & Hall	1995
11	Lewin	Genes VIII	Pearson	2004
12	Maloy and Freifelder	Microbial Genetics	Jones and Barlett	1994
13	Meesfeld	Applied Molecular Genetics	Wiley-Liss	1999
14	Ptashne	Genetic Switch	Blackwell	1986
15	Russell	Genetics	Benjamin	2002
16	Streips & Yasbin	Modern Microbial Genetics	Wiley	2002
17	Trun & Trempy	Fundamentals of Bacterial Genetics	Blackwell	2004
18	Watson et al	Molecular Biology of the Gene	Pearson	2004

COURSE MHG C 105: DNA Technology & Genetic Engineering I (2.5 + 1 Credits)

1	Enzymes used in DNA technology	4
	1.1 Restriction and modification enzymes 1.2 Other nucleases 1.3 Polymerases 1.4 Ligase, kinases and phosphatases
2	Nucleic acids	4
	2.1 Isolation and purification of DNA (genomic and plasmid) and RNA 2.2 Gel electrophoresis of nucleic acids (denaturing and native) 2.3 Pulse-field gel electrophoresis of DNA
3	Cloning vectors	7
	3.1 Plasmids 3.2 Phages 3.3 Cosmids 3.4 Artificial chromosomes 3.5 Shuttle vectors 3.6 Expression vectors
4	Cloning techniques	5
	4.1 Construction of genomic and cDNA libraries 4.2 Positional cloning: RFLP mapping, chromosome walking and jumping
5	Screening and characterization of clones	12
	5.1 Preparation of probes 5.2 Restriction mapping 5.3 Principles of hybridizations and hybridization based techniques (colony, plaque, Southern, Northern and in situ hybridizations) 5.4 Expression based screening 5.5 Interaction based screening: yeast two-hybrid system

Recommended Books
1	Ausubel et al	Short Protocols in Molecular Biology	Wiley	2002
2	Brown	Essential Molecular Biology VI	AP	2000
3	Brown	Essential Molecular Biology VII	AP	2000
4	Brown	Gene Cloning - An Introduction	Stanley Thornes	1995
5	Glick and Pasternak	Molecular Biotechnology	ASM Press	1998
6	Kracher	Molecular Biology - A Practical Approach
7	Krenzer and Massey	Recombinant DNA and Biotechnology	ASM	2000
8	Micklos and Freyer	DNA Science	CSHL	1990
9	Primrose	Molecular Biotechnology	Panima	2001
10	Robertson et al	Manipulation & Expression of Recombinant DNA	AP	1997
11	Sambrook et al	Molecular Cloning	CSHL	2001
12	Twyman	Advanced Molecular Biology	Viva	1999
13	Watson et al	Recombinant DNA	Freeman	1992

COURSE MHG C 106: Biochemistry & Metabolic Disorders I (2 + 1 Credits)

1	Amino acids and peptides	6
	1.1. Essential and non-essential amino acids 1.2. Amino acids related disorders 1.3. Small peptides and their biomedical importance
2	Proteins	4
	2.1. Structure-conformation-function relationship (exemplified by Myoglobin, Hemoglobin, and Collagen) 2.2. Protein degradation
3	Enzymes	8
	3.1. General properties 3.2. Kinetics: derivation of Michaelis-Menten equation, L-B plot 3.3. Enzyme inhibition 3.4. Mechanism of action 3.5. Regulation of enzyme activity
4	Carbohydrates	8
	4.1. Mucopolysaccharides and related disorders 4.2. Glycolysis 4.3. Krebs cycle 4.4. Gluconeogenesis 4.5. Glycogenesis and glycogenolysis, 4.6. Disorders of glycogen metabolism

Recommended Books
1	Berg et al	Biochemistry	Freeman	2002
2	Bhagwan	Medical Biochemistry	AP	2004
3	Devlin	Biochemistry for the Molecular Sciences	Wiley	2002
4	Higgins et al	Biochemistry for the Molecular Sciences	Longman	1994
5	Murray et al	Harpers Illustrated Biochemistry	Prentice Hall	2003
6	Nelson et al	Lehninger’s Principles of Biochemistry	McMillan	2000
7	Voet & Voet	Biochemistry Vol. 1 and 2	Wiley	2004
8	Zubay et al	Principles of Biochemistry	WCB	1995

COURSE MHG C 107: Instrumentation (1.5 + 0.5 Credits)

1	Basic knowledge of principles and applications of the following microscopy techniques	10
	1.1. Light Microscopy 1.2. Dark-field Microscopy 1.3. Phase-contrast Microscopy 1.4. Fluorescence Microscopy 1.5. Confocal Microscopy 1.6. Electron Microscopy 1.7. Photography, Digital imaging and image Processing
2	Biochemical and biophysical techniques	10
	2.1. Centrifugation: types of rotors, clinical, highspeed and ultracentrifuges 2.2. Colorimetry and spectrophotometry: Beer-Lambert law; absorption spectrum, fluorescence spectrum, introduction to mass spectrometry 2.3. Chromatography: Paper, Thin layer chromatography; Columns: ion-exchange, gel-filteration, HPLC and affinity columns, electrophoresis 2.4. Tracer techniques: Properties and units of radioactivity; half-life; measurement of radioactivity by GM counter, liquid scintillation counter; autoradiography Radio-immunoassay; safety rules in handling of radioisotopes and hazardous chemicals

Recommended Books
1	Alberts et al	Essential Cell Biology	Garland	1998
2	Alberts et al	Molecular Biology of The Cell	Garland	2002
3	Boney	Cell Biology Level II	Macdonald & Evans	1982
4	Boyer	Modern Experimental Biochemistry	Benjamin	1993
5	Clark & Switzer	Experimental Biochemistry	Freeman	2000
6	Freifelder	Physical Biochemistry	Freeman	1987
7	Karp	Cell and Molecular Biology	John Wiley	2002
8	Locquin and Langeron	Handbook of Microscopy	Butterwaths	1983
9	Tobin and Morcel	Asking about Cells	Saunders	1997

COURSE MHG C 208: Cytogenetics (3 + 1 Credits)

1	Chromatin structure	4
	1.1. Histones, DNA 1.2. Nucleosome and higher level organisation
2	Chromosome organisation	8
	2.1. Metaphase chromosome: centromere and kinetochore, telomere and its maintenance; Holocentric chromosomes and supernumerary chromosomes 2.2. Chromosomal domains (matrix, loop domains) and their functional significance 2.3. Heterochromatin and euchromatin, position effect variegation, boundary elements 2.4. Chromosome bandings
3	Functional states of chromatin and alterations in chromatin organization	3
4	Structural and functional organization of interphase nucleus	2
5	Giant chromosomes	4
	5.1 Polytene chromosomes 5.2 Lampbrush chromosomes
6	Mitosis	3
	6.1. Mitotic spindle and arrangement of chromosomes on equator 6.2. Regulation of exit from metaphase 6.3. Chromosome movement at anaphase
7	Meiosis	5
	7.1 Overview of the process 7.2 Meiosis specific cellular changes 7.3 Genetic control of meiosis (example: yeast)
8	Chromosomal anomalies	5
	8.1 Numerical 8.2 Structural 8.3 Meiosis in inversion and translocation heterozygotes; breakage-fusion-bridge cycles 8.4 Induced chromosomal aberrations in somatic cells 8.5 Sister chromatid exchanges and somatic crossing over
9	Dosage compensation in Caenorhabditis, Drosophila and mammals	5

Recommended Books
1	Alberts et al	Essential Cell Biology	Garland	1998
2	Alberts et al	Molecular Biology of The Cell	Garland	2002
3	Bostoc and Sumner	The Eukaryotic Chromosome	Elsevier	1980
4	Hamsew and Flavell	The Chromosome	Bios	1993
5	Hawley & Walker	Advanced Genetic Analysis	Blackwell	2003
6	Hennig	Structure & Function of Eukaryotic Chromosomes	Springer	1987
7	Lewin	Genes VIII	Pearson	2004
8	Lodish et al	Molecular Cell Biology	Freeman	2004
9	Obe and Natarajan	Chromosome aberrations - Basic and Applied Aspects	Springer	1990
10	Risley	Chromosome Structure and Function	Reinhold	1985
11	Rooney & Czepulkowski	Human Cytogenetics – A Practical Approach	IRL	1987
12	Sumner	Chromosomes	Blackwell

COURSE MHG C 209: Molecular Genetics II (2.5 + 1 Credits)

1	Gene mapping in bacteria	7
	1.1. Transformation 1.2. Conjugation 1.3. Transduction 1.4. Sexduction
2	Recombination, deletion and complementation mapping in T4 phage (rII locus)	3
3	Mutagenesis & DNA repair	10
	3.1. Endogenous and exogenous origins of DNA damage 3.2. Types of DNA damage 3.3. DNA repair pathways 3.4. Error-prone repair and mutagenesis 3.5. Damage signaling and checkpoint arrest 3.6. Types of mutations and nomenclature 3.7. Detection and isolation of mutations
4	Recombination	12
	4.1. Homologous recombination: models and molecular mechanisms 4.2. Gene conversion: molecular mechanisms 4.3. Site specific recombination 4.4. Transposons and transposition mechanisms

Recommended Books
1	Alberts et al	The Science of Genetics	Saunders	1999
2	Benjamin	Genetics: A Conceptual Approach	Freeman	2003
3	Berg and Singer	Genes and Genome		1998
4	Black	Microbiology: Principles & Explorations	Wiley	2002
5	Dale & Schartz	From genes to Genome	Wiley & Sons	2003
6	Griffiths et al	Modern Genetic Analysis	Freeman	2002
7	Griffiths et al	An Introduction to Genetic Analysis	Freeman	2004
8	Hartl et al	Essential Genetics	Wiley & Sons	2002
9	Klug & Cummings	Essentials of Genetics	Prentice Hall	2003
10	Latchman	Gene Regulation	Chapman	1995
11	Lewin	Genes VIII	Pearson	2004
12	Lindahl & West	DNA Repair and Recombination	Chapman	1996
13	Maloy and Freifelder	Microbial Genetics	Jones and Barlett	1994
14	Meesfeld	Applied Molecular Genetics	Wiley-Liss	1999
15	Nickoloff & Hockstra	DNA Damage and Repair	Humana	2001
16	Streips & Yasbin	Modern Microbial Genetics	Wiley	2002
17	Trun & Trempy	Fundamentals of Bacterial Genetics	Blackwell	2004
18	Watson et al	Molecular Biology of the Gene	Pearson	2004

COURSE MHG C 210: DNA Technology & Genetic Engineering II (2.5 + 1 Credits)

1	S1 nuclease and RNase mapping	1
2	DNA sequencing	2
3	Oligonucleotide synthesis	1
4	Polymerase Chain Reaction and its application	3
5	Microarray technology	2
6	ELISA, western and south-western blotting	2
7	Promoter characterization: promoter analysis through reporter genes, electrophoretic mobility shift assay, DNA foot-printing	2
8	DNA fingerprinting	1
9	Mutagenesis	4
	9.1. Site directed mutagenesis 9.2. Transposon mutagenesis 9.3. Construction of knock-out mutants
10	Gene transfer techniques	5
	10.1 Electroporation and microinjection 10.2 Transfection of cells: Principles and methods 10.3 Germ line transformation in Drosophila and transgenic mice: Strategies and methods
11	Applications of Recombinant DNA Technology	9
	11.1 Crop and live-stock improvement 11.2 Molecular genetic analysis of human diseases 11.3 Gene therapy: somatic and germ line gene therapy 11.4 DNA drugs and vaccines 11.5 Bio safety and ethical considerations

Recommended Books
1	Ausubel et al	Short Protocols in Molecular Biology	Wiley	2002
2	Brown	Essential Molecular Biology VI	AP	2000
3	Brown	Essential Molecular Biology VII	AP	2000
4	Brown	Gene Cloning - An Introduction	Stanley Thornas	1995
5	Glick & Pasternak	Molecular Biotechnology	ASM Press	1998
6	Kracher	Molecular Biology - A Practical Approach
7	Krenzer & Massey	Recombinant DNA and Biotechnology	ASM	2000
8	Micklos & Freyer	DNA Science	CSHL	1990
9	Primrose	Molecular Biotechnology	Panima	2001
10	Reischel	Molecular Diagnosis of Infectious Diseases	Humana	1998
11	Robertson et al	Manipulation & Expression of Recombinant DNA	AP	1997
12	Sambrook et al	Molecular Cloning	CSHL	2001
13	Twyman	Advanced Molecular Biology	Viva	1999
14	Watson et al	Recombinant DNA	Freeman	1992

COURSE MHG C 211: Biochemistry & Metabolic Disorders II (2 + 1 Credits)

1	Lipids	8
	1.1.Fatty acids: synthesis and oxidation of fatty acids 1.2.Ketogenesis 1.3.Metabolism of cholesterol 1.4.Lipoproteins: role in lipid transport and storage 1.5.Prostaglandins: structure and function
2	Bioenergetics	5
	2.1. Second law of thermodynamics 2.2. High energy compounds 2.3. Oxidative phosphorylation
3	Hormones	3
	3.1.Characteristics 3.2.Mechanism of action of peptide and steroid hormones 3.3.Hormone receptors and diseases
4	Structure and function of water- and lipid-soluble vitamins	2
5	Nucleic Acids: structure and conformations	3
6	Nucleotide Metabolism	5
	6.1. Synthesis and degradation of pyrimidine and purine nucleotides 6.2. Disorders of nucleotide metabolism

Recommended Books
1	Berg et al	Biochemistry	Freeman	2002
2	Bhagwan	Medical Biochemistry	AP	2004
3	Devlin	Biochemistry: with clinical correlations	Wiley	2002
4	Higgins et al	Biochemistry for the Molecular Sciences	Longman	1994
5	Murray et al	Harpers Illustrated Biochemistry	Prentice Hall Int	2003
6	Nelson et al	Lehninger’s Principles of Biochemistry	McMillan	2000
7	Voet & Voet	Biochemistry Vol. 1 and 2	Wiley	2004
8	Zubay et al	Principles of Biochemistry	WCB	1995

COURSE MHG C 212: Model Genetic Systems (1 + 0.5 Credits)

1	Life cycles and advantages of the following organisms commonly used in genetic studies	11
	1.1 T4 and l phages 1.2 Neurospora 1.3 E.coli 1.4 Saccharomyces cerevisea and Schizosaccharomyces pombe 1.5 Caenorhabditis 1.6 Drosophila 1.7 Zebra fish 1.8 Mouse
2	Conventions of nomenclature of genes and gene products in different model systems	5

Recommended Books
1	Ashburner	Drosophila - A Laboratory Handbook	CSHL Press	1989
2	Demerec & Kaufmann	Drosophila Guide	Carnegie	1965
3	Hood	The Nematode: C. elegans	CSHL	1998
4	Trends in Genetics	Genetic Nomenclature Guide	Elsevier	1998

COURSE MHG C 213: Bioinformatics (1 + 1 Credits)

1	Basics of computers (CPU, I/O units) and operating systems		1
2	Introduction and scope of Bioinformatics		1
3	Computer networking		2
	3.1. Internet and E-mail 3.2. Concept of home pages and web-sites 3.3. World Wide Web, Uniform Resource Locators
4	Archiving and retrieval of information		6
	4.1. Search engines 4.2. Data bases
		4.2.1.Nucleic acid sequences 4.2.2.Genomes 4.2.3.Protein sequence and structures 4.2.4.Bibliogaphic
	4.3. Access to molecular biology data bases
		4.3.1.Entrez 4.3.2.Sequence retrieval system (SRS) 4.3.3.Protein identfication resource (PIR)
5	Sequence alignments and phylogenetic trees		3

Recommended Books
1	Attwood & Parry-Smith	Introduction to Bioinformatics	Pearson	2002
2	Barnes & Gray (ed)	Bioinformatics for Geneticists	Wiley	2003
3	Lesk	Introduction to Bioinformatics	Oxford	2003
4	Mount	Bioinformatics: Sequence and Genome Analysis	CBS	2003
5	Rashidi & Buchler	Bioinformatics Basics	CRC Press	2000
6	Rastogi et al	Bioinformatics: Concepts, Skills and Applications	CBS	2003
7	Westhead et al	Bioinformatics Instant Notes	Viva Books	2003

COURSE MHG C 314: Human Molecular Genetics (3 + 1 Credits)

1	Genetic mapping of Mendelian traits		6
	1.1. Identifying recombinants and nonrecombinants in pedigrees 1.2. Genetic and physical map distances 1.3. Genetic markers 1.4. Two-point mapping- LOD score analysis 1.5. Multipoint mapping 1.6. Homozygosity mapping
2	Genetic mapping of complex traits		6
	2.1. Difficulties in mapping complex traits 2.2. Allele sharing methods- Affected sib pair analysis 2.3. Allelic association, Linkage disequilibrium mapping, Transmission disequilibrium test
3	Physical mapping methods		6
	3.1. Low resolution mapping- Cell hybrids, mini- and microcells, synteny of genes, Radiation hybrid mapping 3.2. Assembly of clone contigs 3.3. Identifying genes in cloned DNA 3.4. Integration of cytogenetic, genetic and physical maps
4	Identifying human disease genes		6
	4.1. Principles and strategies 4.2. Position-independent and positional cloning. Candidate gene approaches 4.3. Confirming a candidate gene- mutation screening, testing in animal models
5	Molecular pathology		7
	5.1. Nomenclature of mutations and their databases 5.2. Loss-of-function and gain-of-function mutations in diseases 5.3. Instability of the human genome: Pathogenicity associated with repeat sequences
6	DNA testing		8
	6.1. Direct testing
		6.1.1.Screening for unknown mutations 6.1.2.Detection of known mutations
	6.2. Indirect testing – gene tracking 6.3. DNA profiling: establishing identity and relationships 6.4. Population screening - ethics, organization and advantages

Recommended Books
1	Davies	Human Genetic Disease Analysis	IRL	1993
2	Haines & Pericak	Approaches to Gene Mapping in Complex Human Diseases	Wiley	1998
3	Nussbaum et al	Genetics in Medicine	Saunders	2001
4	Pasternak	An Introduction to Molecular Human Genetics	Fritzgerald	2000
5	Rimoin et al	Principles & Practice of Medical Genetics, Vol I-III	Churchill	2002
6	Strachan & Read	Human Molecular Genetics	Wiley	1999
7	Sudbery	Human Molecular Genetics	Prentice-Hall	2002

COURSE MHG C 315: Developmental Genetics (3 + 1 Credits)

1	Early development		5
	1.1 Fertilization 1.2 Types of cleavage 1.3 Gastrulation: Cell movement and formation of germ layers in frog, chick and mouse 1.4 Concept of determination, competence and differentiation
2	Development of vertebrate nervous system		5
	2.1 Formation of neural tube 2.2 Formation of brain regions 2.3 Tissue architecture of the central nervous system
3	Genetics of pattern formation		12
	3.1 Caenorhabditis: Vulva formation 3.2 Drosophila
		3.2.1 Maternal genes and formation of body axes 3.2.2 Segmentation genes 3.2.3 Homeotic genes function 3.2.4 Imaginal disc development
	3.3 Vertebrates
		3.3.1 Axes formation and HOX genes 3.3.2 limb formation in chick
4	Programmed rearrangements in genes		4
	4.1 Chromatin diminution 4.2 Endoreplication cycles 4.3 Gene amplification
5	Genome imprinting		1
6	Genetic determination of sex in Caenorhabditis, Drosophila and mammals		3
7	Regeneration		1
8	Senescence		1
9	Embryonic stem cells and their applications		2
10	Clinical embryology		6
	10.1 Differentiation of germ cells and gametogenesis 10.2 Fertilization and implantation 10.3 Stages of human embryonic development 10.4 Congenital malformations and teratogenesis 10.5 Reproductive failure and infertility and assisted reproduction

Recommended Books
1	Alberts et al	Molecular Biology of The Cell	Garland	2002
2	Gilbert	Developmental Biology	Sinauer	2003
3	Kalthoff	Analysis of Biological Development	McGraw Hill	1996
4	Lewin	Genes VIII	Pearson	2004
5	Monk	Mammalian Development – A Practical Approach	IRL	1987
6	O'Rahilly and Muller	Human Embryology and Teratology	Wiley	1992
7	Rana	Human Embryology Made Easy	Harwood	1998
8	Wolpert	Principles of Development	Oxford	2002

COURSE MHG C 316: Behavioural Genetics (1.5 + 0.5 Credit)

1	Nature-nurture and behaviour		5
	1.1 Genetic experiments to investigate animal behaviour
		1.1.1 Selection studies 1.1.2 Inbred strain studies
	1.2 Identifying genes for behavior
		1.2.1 Induced mutations 1.2.2 Quantitative trait loci 1.2.3 Synteny homology
	1.3 Investigating the genetics of human behaviour
		1.3.1 Twin and adoption study designs, interpreting heritability 1.3.2 Linkage and association studies
	1.4 Environmental influence- shared and non-shared environment
2	Neurogenetics		4
	2.1 Study designs: genetic and environmental manipulations 2.2 Circadian rhythms 2.3 Learning and memory
3	Cognitive disabilities		4
	3.1 Mental retardation 3.2 Learning disorders, Communication disorders, Dementia
4	Psychopathology		5
	4.1 Schizophrenia 4.2 Mood disorders 4.3 Anxiety disorders 4.4 Disorders of childhood
5	Personality and personality disorders- antisocial personality, criminal behaviour		2

Recommended Books
1	Kaplan and Sadock	Synopsis of Psychiatry	Williams & Wilkins	1998
2	Plomin et al	Behavioral Genetics	Freeman	2001

COURSE MHG C 317: Molecular Genetics of Human Pathogens (1+0.5 Credits)

1	Host-pathogen interaction, evolution of pathogenecity and regulation of virulence	2
2	Mechanism of drug resistance in pathogens	2
3	Molecular biology of following pathogens: HIV, Hepatitis viruses, Mycobacterium tuberculosis, Vibrio cholerae, Plasmodium, Leishmania, Trypanosoma, Entamoeba	8
4	Molecular mechanisms for origin of new pathogens	1

Recommended Books
1	Heritage et al	Introductory Microbiology	Cambridge Univ.	1996
2	Madigen et al	Biology of Microorganisms	Prentice Hall	1997
3	Nesler et al	Microbiology-A Human Perspective	WCB	1995
4	Pelczar et al	Microbiology	Tata	1993
5	Prescott et al	Microbiology	WCB	1999
6	Reischel	Molecular Diagnosis of Infectious Diseases	Humana	1998
7	Streips & Yasbin	Modern Microbial Genetics	Wiley	2002
8	Trun & Trumpy	Fundamentals of Bacterial Genetics	Blackwell	2004
9	Volk et al	Essentials of Medical Microbiology	Lippincott & Co	1991
10	Black	Microbiology: Principles & Explorations	Wiley	2002

COURSE MHG C 418: Comprehensive Viva-voce (2 Credits)

Each student will have a comprehensive via-voce examination in Semester IV covering the entire course (Semester I through Semester IV)

MAJOR ELECTIVES

COURSE MHG MA 301: Clinical Genetics (3 + 1 Credits)

1	An overview of the genetic basis of syndromes and disorders	1
2	Monogenic diseases with well known molecular pathology 2.1.Cystic fibrosis 2.2.Tay-Sachs syndrome 2.3. Marfan syndrome	4
3	Inborn errors of metabolism and their genetic bases 3.1. Phenylketonuria 3.2. Maple syrup urine syndrome 3.3. Mucopolysaccharidosis 3.4. Galactosemia	4
4	Genome imprinting Syndromes: Prader-Willi & Angelman syndromes, Beckwith-Wiedeman Syndrome	2
5	Genomic syndromes: Neurofibromatosis I	1
6	Neurogenetic disorders 5.1 Major regions of human brain and nerve conduction 5.2 Charcot-Marie-Tooth syndrome, spinal muscular atrophy 5.3 Syndromes due to triplet nucleotide expansion 5.4 Alzheimer’s disease	6
7	Muscle genetic disorders 6.1 Dystrophies (Duchenne Muscular dytstrophy and Becker Muscular Dystrophy) 6.2 Myotonias 6.3 Myopathies	3
8	Genetic disorders of Haemopoitic systems 7.1 Overview of Blood cell types and haemoglobin 7.2 Sickle cell anemia 7.3 Thalassemias 7.4 Hemophilias	4
9	Genetic disorders of eye	3
10	Complex polygenic syndromes 11.1 Hyperlipidemia 11.2 Atherosclerosis 11.3 Diabetes mellitus	4
11	Mitochondrial syndromes	1
12	Management of genetic disorders	3

Recommended Books
1	Cox and Sinclair	Molecular Biology in Medicine	Blackwell	1997
2	DeGrouchy and Turleau	Clinical Atlas on Human Chromosomes	Wiley	1984
3	Jankowski and Polak	Clinical Gene Analysis and Manipulation	Cambridge	1996
4	Korf	Human Genetics – A Problem Based Approach	Blackwell	1996
5	Pasternak	An Introduction to Molecular Human Genetics	Fritzgarald	2000
6	Rasko and Downes	Genes in Medicine	Kluwer	1995
7	Rimoin et al	Principles & Practice of Medical Genetics, vol I-III	Churchill	2002
8	Robinson and Linden	Clinical Genetics Handbook	Blackwell	1994
9	Strachan and Read	Human Molecular Genetics	Wiley	1999
10	Wilson	Clinical Genetics: A Short Course	Wiley-Liss	2000

COURSE MHG MA 302: Immunogenetics (2.5 + 0.5 Credits)

1	An introduction to immune system 1.1 Innate and adaptive immunity 1.2 Cells and organs of the immune system 1.3 Primary and secondary immune responses 1.4 Antigens, antibodies and T cell receptors		5
		1.4.1 Antigens 1.4.2 Structure and function of immunoglobulins 1.4.3 Monoclonal antibodies 1.4.4 B and T cell receptors and coreceptors 1.4.5 Antigen-antibody interactions
2	Immunoglobulin and T-cell receptor genes 2.1 Organization of Ig gene loci 2.2 Molecular mechanisms of generation of antibody diversity 2.3 Expression of Ig genes 2.4 Regulation of Ig gene transcription 2.5 Antibody engineering 2.6 Organization of TCR gene loci 2.7 Generation of TCR diversity		8
3	The HLA complex 3.1 Organization of HLA complex 3.2 Structure of class I and II HLA molecules 3.3 Expression of HLA genes 3.4 HLA polymorphism		3
4	Generation and regulation of immune responses 4.1 Antigen processing and presentation 4.2 MHC-restriction 4.3 Cytokines and activation of T and B cells 4.4 Clonal selection and immunological memory 4.5 Complement system 4.6 Regulation of immune responses 4.7 Immunological tolerance		7
5	Disorders of Human Immune System 5.1 Primary and secondary immunodeficiencies 5.2 Autoimmune disorders and role of MHC in disease susceptibility 5.3 Hypersensitive reactions 5.4 Cytokine-related diseases		5
6	Immune system in human health 6.1 Immune response to infectious diseases and malignancy 6.2 Concept of immunotherapy 6.3 Vaccines 6.4 Transplantation immunology		4

Recommended Books
1	Abbas et al	Cellular and Molecular Immunology	Saunders	2001
2	Barrett	Text Book of Immunology	Mosloy	1988
3	Benjamin et al	Immunology – A Short Course	Wiley-Liss	2000
4	Kuby	Immunology	Freeman	2003
5	Roitt	Essential Immunology	Blackwell	2003
6	Roitt et al	Immunology	Mosloy	2000

COURSE MHG MA 303: Population & Evolutionary Genetics (2.5 Credits)

1	Concept and theories of evolution	3
2	Microevolution in Mendelian population 2.1 Mendelian Population 2.2 Allele frequencies and genotype frequencies 2.3 Hardy-Weinberg equilibrium and conditions for its maintenance	5
3	Elemental forces of evolution 3.1 Mutation 3.2 Selection (Types of selection, selection coefficient, selection in natural populations) 3.3 Genetic drift 3.4 Migration	6
4	Chromosomal, DNA and allozyme polymorphism in natural population 4.1 Adaptive genetic polymorphism 4.2 Balanced polymorphism and heterosis 4.3 Genetic coadaptation and linkage disequilibrium
5	Isolating mechanisms	3
6	Concept of species and modes of speciation: sympatric, allopatric, stasipatric	2
7	Molecular population genetics 7.1 Molecular evolution (neutral theory, punctuated equilibrium) 7.2 DNA-based phylogenetic trees 7.3 Molecular clock	4
8	Nonrandom breeding 8.1 Inbreeding and assortative mating 8.2 Path diagram construction and inbreeding coefficient, allelic identities by descent	2
9	Human phylogeny 9.1 Hominid evolution: anatomical, Geographical, Cultural 9.2 Molecular phylogenetics of Homo sapiens 9.3 Peopling of continents (Europe, Africa, Asia)	4

Recommended Books
1	Brown	Genomes	Bios	1999
2	Hartl & Clark	Principles of Population Genetics	Sinaur	1997
3	Hartl and Jones	Genetics _ Principles and Analysis	Jones and Bartlet	1998
4	Hoelzel	Molecular Genetic Analysis of Populations	Oxford Univ	1998
5	Jobling et al	Human Evolutionary Genetics	Garland	2004
6	Moody	Evolution	Harper and Row	1964
7	Roberts & DeStefano	Genetic Variation and its Maintenance	Cambridge Univ	1986
8	Smith	Evolutionary Genetics	Oxford	1998
9	Strickberger	Evolution	Jones and Barlett	2000

COURSE MHG MA 304: Genetic Counseling (1 + 0.5 Credits)

1	Historical overview of genetic counseling 1.1 Models of Eugenic, Medical/Preventive, Decision making, Psychotherapeutic counseling; current definition and goals 1.2 Philosophy and ethos of genetic services and counseling		2
2	Components of genetic counseling 2.1 Indications for and purpose 2.2 Information gathering and construction of pedigrees 2.3 Medical Genetic evaluation		3
		2.3.1 Basic components of Medical History 2.3.2 Past medical history, social & family history
	2.4 Physical examination
		2.4.1 General and dysmorphology examination 2.4.2 Documentation
3	Patterns of inheritance, risk assessment and counseling in common Mendelian and multifactorial syndromes		3
4	Biochemical and molecular genetic tests 4.1 In children 4.2 Presymptomatic testing for late onset diseases (predictive medicine)		2
5	Prenatal and pre-implantation diagnosis 5.1 Indications for prenatal diagnosis 5.2 Indications for chromosomal testing 5.3 Noninvasive methods 5.4 Invasive methods		2
6	Legal and ethical considerations		1

Recommended Books
1	Baker et al	A Guide to Genetic Counseling	Wiley	1998
2	Harper	Practical Genetic Counseling	Arnold	2001
3	Rose & Lucassen	Practical genetics of primary care	Oxford	1999
4	Young	Introduction to Risk Calculation in Genetic Counseling	Oxford	1999

COURSE MHG MA 405: Human Genome (3 + 1 Credits)

1	The Genome project 1.1. History, organization and goals of human genome project 1.2. Mapping strategies, current status of various maps; DNA segment nomenclature 1.3. Human genome diversity	8
2	Organization of human genome 2.1. Mitochondrial genome 2.2. Gross base composition of nuclear genome 2.3. Gene density 2.4. CpG islands 2.5. RNA-encoding genes 2.6. Functionally identical/similar genes 2.7. Diversity in size and organization of genes	8
3	Gene families 3.1 Multigene families – Classical gene families, families with large conserved domains, families with small conserved domains 3.2 Gene superfamilies 3.3 Gene families in clusters 3.4 Pseudogenes 3.5 Repetitive DNA and transposable elements 3.6 Origin of gene families	8
4	Comparative Genomics 4.1 Overview of prokaryotic and eukaryotic genomes 4.2 C-value, number of genes and complexity of genomes 4.3 Conservation and diversity of genomes 4.4 Comparative genomics as an aid to gene mapping and study of human disease genes	8
5	Global study of Genome activity 5.1 Transcriptome and its analysis 5.2 Proteome and Proteomics	7

Recommended Books
1	Brown	Genomes	Bios	2002
2	Coleman and Tsongalis	Molecular Diagnosis	Humana	1997
3	Dale & Schartz	From Genes to Genomes	Wiley	2003
4	Hawley and Mori	The Human Genome	Academic	1999
5	Lewis	Human Genetics	WCB	1999
6	Liebler	Introduction to Proteomics	Humana	2002
7	Pasternak	An Introduction to Molecular Human Genetics	Fritzgerald	2000
8	Primrose & Twyman	Principles of Genome Analysis & Genomics	Blackwell	2003
9	Strachan and Read	Human Molecular Genetics	Wiley	1999
10	Sudbery	Human Molecular Genetics	Prentice Hall	2002

COURSE MHG MA 406: Cancer Genetics (1.5 +0.5 Credits)

1	Cell transformation and tumourigenesis 1.1. Oncogenes 1.2. Tumour suppressor genes 1.3. DNA repair genes and genetic instability 1.4. Epigenetic modifications, telomerase activity, centrosome malfunction 1.5. Genetic heterogeneity and clonal evolution	9
2	Familial cancers: Retinoblastoma, Wilms’ tumour, Li-Fraumeni syndrome, colorectal cancer, breast cancer	4
3	Genetic predisposition to sporadic cancer	1
4	Tumour progression: angiogenesis and metastasis	1
5	Chromosomal aberrations in neoplasia	2
6	Tumour specific markers	1
7	Cancer and environment: physical, chemical and biological carcinogens	2

Recommended Books
1	Alberts et al	Molecular Biology of the Cell	Garland	2002
2	Cowell	Molecular Genetics of Cancer	Bios	2001
	Ehrlich	DNA Alterations in Cancer	Eaton	2000
	Gersen & Keagle	Principles of Clinical Cytogenetics	Humana	1999
	Lewin	Genes VIII	Pearson	2004
	Lodish et al	Molecular Cell Biology	Freeman	2004
	Stillman	Molecular Genetics of Cancer	CSHL	1994

COURSE MHG MA 407: Clinical Assignments (4 Credits)

Each student will visit the BHU hospital as per the schedule drawn each year and undertake analysis of some of the inherited diseases presented during these visits. Each student will maintain a detailed record of the visits and the patients analyzed and submit a Report on the same.

COURSE MHG MA 408: Dissertation (6 Credits)

Each student will undertake an experimental project under supervision of one of the teachers during Semester 4 and submit TWO copies of the dissertation which will include: a) Review of the relevant literature, b) Objectives of the study, c) Materials and Methods, d) Results/Observations (supported by figures/tables etc as required), e) Discussion of the Results/Observations, f) Summary and g) References

MINOR ELECTIVES

COURSE MHG MI 01: Techniques in Drosophila Genetics (2 Credits)

1	Life cycle and advantages of Drosophila as a model genetic system	4
	1.1. Embryonic development 1.2. Larval stages and tissue types 1.3. Pupa and metamorphosis 1.4. Adult morphology and internal organs 1.5. Spermatogenesis and oogenesis
2	Nomenclature of gene mutations and chromosome rearrangements, balancer chromosomes	2
3	Polytene chromosomes: maps, puffing and utility	3
4	Imaginal discs: development and differentiation	3
5	Mutagenesis	4
	5.1. X-ray and chemical mutagenesis 5.2. P-element insertional mutagenesis
6	Germline transformation with P-element based vectors	2
7	Mitotic recombination and generation of somatic clones for developmental studies	3
8	Conditional and/or targeted expression of genes	3
9	Drosophila models for human genetic disorders

Recommended Books
1	Ashburner	Drosophila - A Laboratory Handbook	CSHL	1989
2	Bates and Arias	Development of Drosophila melanogaster (Vol I & II)	CSHL	1993
3	Demerec and Kaufmann	Drosophila Guide	Carnegie	1965
4	Goldstein and Fyrberg	D. melanogaster practical uses in cell and molecular biology	Academic	1994
5	Lawerence	The making of a fly: The genetics of animal design	Blackwell	1992

COURSE MHG MI 02: Stress Biology (2 Credits)

1	Different environmental stresses	2
2	Cellular responses to heat shock	4
	2.1. Effects at transcriptional, post-transcriptional and translational levels 2.2. Heat shock genes and their regulation
3	Cellular responses to other environmental stresses	3
4	Heat shock protein families and their functions	5
5	Evolution of stress responses and stress genes	3
6	Molecular chaperones as facilitators of developmental plasticity and evolution	3
7	Stress proteins as bio-indicators	2
8	Stress proteins and disease	2
9	Stress proteins in immunity	2

Recommended Books
1	Feige et al	Stress-inducible cellular responses	Birkhauser	1996
2	Morimoto et al	The biology of heat shock proteins & molecular chaperones	CSHL	1994
3	Tissieres et al	Heat shock response – from bacteria to man	CSHL	1981
4		Contemporary reviews published in various journals

COURSE MHG MI 03: Reproductive Genetics (2 Credits)

1	Male and female reproductive systems		10
	1.1. Gonads and differentiation of sexual characters 1.2. Hormonal regulation of sexual differentiation
2	Reproductive disorders		11
	2.1. Disorders of gonads, genital tracts and genitalia
		2.1.1. Pseudohermaphroditism 2.1.2. True hermaphroditism 2.1.3. Gonadal dysgenesis 2.1.4. Anomalies of genital ducts
	2.2. Infertility
		2.2.1. Genetic basis of male infertility 2.2.2. Genetic basis of female infertility 2.2.3. Recurrent pregnancy loss
3	Technologies in reproductive assistance		3
4	Legal and ethical implications in reproductive assistance

Recommended Books
1	Besser & Thorner	Comprehensive clinical endocrinology	Mosby	2002
2	Rimoin et al	Principles & Practice of Medical Genetics, Vol I-III	Churchill	2002

COURSE MHG MI 04: Seminar (1.5 Credits)

The student will deliver a comprehensive seminar on a current topic of his/her choice in the field of Molecular & Human Genetics. The topic of Seminar must be different from the topics covered in any of the courses.

COURSE MHG MI 05: Formulation of a Research Proposal (1.5 Credits)

The student will identify a new topic for research and prepare a document providing a) Background of the research problem, b) Objectives, c) Strategies for experimental work, d) Expected Results and e) References. The student will also present and defend the research proposal formulated by him/her

(Minor Electives will be offered in Semester 2 and 4)