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B.Sc. GENETICS SYLLABUS 1 CORE COURSES GN I B 01 : CORE COURSE I METHODOLOGY AND PERSPECTIVE OF SCIENCES Unit I: Science and Science Studies Types of knowledge: Practical, theoretical and scientific knowledge, Information: What is science? What is not science? Laws of Science, Basis for scientific laws and factual truths. Science as a human activity, scientific temper, empiricism, vocabulary of science, science disciplines. Revolutions in science, Science and Technology. Unit II: Methods and Tools of Science Hypotheses: theories and laws in science, Observations, evidences and proofs. Peer reviews. Posing a question; formulation of hypothesis; Hypothetico-deductive model, Inductive model. Significance of verification (proving), corroboration and falsification (disproving), auxiliary hypothesis, adhoc hypothesis. Revision of scientific theories and laws. Importance of models, simulations and virtual testing. Mathematical methods versus Scientific methods. Unit III: Experimentation in Science Design of an experiment; experimentation; observation; data collection; interpretation and deduction. Necessity of units and dimensions; repeatability and replication; Documentation of experiments, Record keeping. Connection between measurements and underlying theory. Types of experiments. Experiments to test a hypothesis, to measure a variable or to gather data by preliminary and explorative experiments. Planning of experiments: Design, selection of controls, observational requirements instrumental requirements. Scientific Instruments; Sensory extension; choice and selection of instruments; sensitivity of instruments; Accuracy and precision, Types of instrumentation; Historical development and evolution of scientific instruments. Robotics. (Only a general orientation of scientific instruments required). Making observations: direct and indirect observations, controlled and uncontrolled observations, human and machine observations. Examples of great experiments in science. (To illustrate how various tools were applied to answer a question). 2 Unit IV: Data handling in ethics science Documentation of experiments. Nature and Types of data – typical examples; Data acquisition; Treatment of data; Data interpretation, Significance of statistical tools in data interpretation, errors and inaccuracies, instrumental errors and variables, human errors (basic idea). Data presentation: graphs, tables, histograms and pi diagrams. Statistical testing of hypothesis, null hypothesis, Significance test – Statistics based acceptance or rejection of a hypothesis. Deduction of scientific correlation, patterns and trends. Ethics in Science: Scientific information, Depositories of scientific information, primary, secondary and digital sources, Sharing of knowledge; transparency and honesty; danger of preconceived ideas. Reporting of observational and experimental data, human bias, Biased observations, Influence of observer on observations, using and acknowledge observations by others. Publications and Patents. Plagiarism. Reference Books Gieryn, T.f. Cultural Boundaries of Science., Univ. Chicago Press, 1999. Collins H. and T. Pinch. The Golem: What Everyone should know about Science ., Cambridge Univ Press, 1993 Hewitt, Paul G, Suzanne Lyons, John a. Suchocki-Wesley, 2007 Newton R G. The Truth of Science: New Delhi, 2nd edition Bass, Joel, E and et. al, Methods for Teaching Science as Inquiry, Allyn & Bacon, 2009. GN 2 B 02 : CORE COURSE II CELL BIOLOGY Total 36 hrs Unit- 1: Methods in Cell Biology (5 hrs) Microsopy:- Use of Microscopes in cytology, principles, magnification, resolving power, handling of different microscopes, compound, phase contract, electron microscope, fluorescent, scanning electron, dissection, fluorescence activated cell sorting (FACS), confocal scanning. Brief account of methods of cell and tissue disruption, centrifugation - preparative, analytical, differential, density gradient, method of separating whole cells. Unit- 2: Introduction to the Cell (3 hrs) Cell theory, evolution of the cell from molecules to the first cell, from prokaryotes to eukaryotes from single cells to multicellular organisms. Structural organization of prokaryotes and eukaryotes. 3 Unit- 3: Molecular Architecture of Cell (15 hrs) Plasma membrane – cell wall, extracellular matrix, cell junction Nucleus - Nuclear envelope, nuclear pore, nuclear transport, chromosome, chromatin (euchromatin, heterochromatin). Special types of chromosome (polytene, lamp brush). Endoplasmic reticulum, golgi, vericles, lysosomes. Mitochondria, Chloroplast, peroxisomes. Cytoskeleton - microtubules, actin, intermediate filaments, centriole, cilias, flagella. Unit- 4: Cellular Regulation (13 hrs) A brief overview of cell cycle and its regulation Mitosis and meiosis Cell-cell signalling A brief overview of cancer Cell apoptosis. . References: 1. The cell- Bruce Alberts. 2. Cell and molecular biology – De Robertis 3. Cell and molecular biology – Gerald Karp. 4. The cell –Cooper (a molecular approach) GN 3 B 03: CORE COURSE III BASIC GENETICS Total – 54 hrs Unit- 1: Introduction to Genetics (1 hr) Introduction Scope and significance of genetics Unit- 2: Principle of Genetic Transmission (10 hrs) 4 Mendels’ Experiments Symbols and terminology. Principle of dominance and segregation Principle of independent assortment Mendelian inheritance and probability (Multiplication and Addition rites) Unit- 3: Extension of Mendelism (12 hrs) Allelic variation and gene function Incomplete dominance, co-dominance, multiple alleles Gene action-from genotype to phenotype. Gene interaction, penetrance, expressivity, epistasis, pleiotropy, interaction with environment. Unit- 4: Quantitative Genetics (6 hrs) Continuous variation Quantitative traits - additive alleles, calculating the number of polygenes, significance of polygenic control. Heritability in a broad sense and narrow sense ; Artificial selection. Unit- 5: The chromosomal basis of Mendelism (25 hrs) Chromosomes – chromosome number, sex chromosome Chromosome theory of inheritance Experimental evidence, non-disjunction as proof of chromosome theory, chromosomal basis of Mendel’s principles of segregation and independent assortment. Sex linked genes in humans Haemophilia, colour blindness, fragile X. Sex chromosome and sex determination - Human, Drosophila, other animals. Dosage compensation of X- linked genes. Hyper activation of X-linked gene in male drosophila, Inactivation of X-linked gene in female. REFERENCES 1. Genetics – Principle and Analysis – Hart and Jones. 2. Genetics – Peter J. Russell. 5 3. Principles of Genetics – Snustad and Simmons. 4. Genetics – A Continuity of Life– Daniel J. Fairbanks, W. Ralph Anderson. GN 4 B 04 : CORE COURSE IV Cytogenetics and Evolutionary Genetics (Total – 54 hrs) Unit- 1: Chromosomal Variations (10 hr) Morphology of chromosomes Structural and Numerical Variations Unit- 2: Linkage, Crossing over and chromosome mapping (15 hrs) Linkage, Recombination, Crossing over (Mitotic crossing over) Chromosome mapping (two point and three point test cross) Tetrad analysis. Fire structure mapping (r II locus) Unit- 3: Extranuclear Inheritance (4 hrs) Maternal Inheritance Mitochondrial- Snail, poky and petite Chloroplast – leaf variegation in Mirabilis jalapa, Iojap. Unit- 4: Population Genetics and Evolution (10 hrs) Population and gene pool Allelic frequency Hardy – Weinberg law Changes in genetic structure of population Mutation, genetic drift (causes and effect), migration, natural selection. Non-random mating (heterosis) Unit- 5: Genetics and Speciation (10 hrs) Genetic Variation in natural population Phenotypic variation Species concept Reproductive isolation Modes and speciation Allopartic, sympatric, parapatric, quantum speciation. 6 References: Principles of Genetics – Simmons, Snustad, Jenkins. Concepts of Genetics– Klug and Cummings. Genetics – Peter J. Russell. Genetics Fairbanks, Ralph. Anderson. GN 5 B 05 : CORE COURSE V Molecular Biology and Molecular Genetics I (Total – 72 hrs) Unit- 1: Structure of Genetic Material (2 hr) Introduction – Nature of Genetic material Discovery of DNA as genetic material (Griffith, Avery, Hershey Chase) Strucutre of nucleic acid (A, B and Z model) Super coiling and Topoisomerase Types of RNA- Structural and functional. Unit- 2: Replication of DNA (5 hrs) Salient features of prokaryotic and eukaryotic DNA replication. Unit- 3: Molecular Mechanism of Recombination (7 hrs) Homologous recombination, Site specific recombination. Models of recombination (Holiday model, Double strand break, etc.) Unit- 4: Mutation (5 hrs) Types of mutation Causes of mutation - Physical and chemical mutagens Unit- 5: DNA Repair Mechanism (8 hrs) Excision Mechanism – Nucleotide, Base Post Replication Repair- mismatch repair, recombination repair, SOS repair. Unit- 6: Transposable Elements (8 hrs) Transposable elements in prokaryotes – IS, Transposons. Mechanism of Transposition in Prokaryotes Transposable elements in eukaryotes – AC- Ds system in Maize, Drosophila- P elements, Yeast - Ty elements Retro-transposons and Retroposons. 7 GN 5 B 06 : CORE COURSE VI Molecular Biology and Molecular Genetics II Unit- 7: Transcription and RNA Processing (15 hrs) Central Dogma Transcription in prokaryotes, eg: Lac, Tryp operon. Transcription in eukaryotes RNA processing – nuclear splicing, rRNA and tRNA processing Unit- 8: Genetic Code and Translation (15 hrs) Salient features of genetic code Translation in prokaryotes and eukaryotes Post-translational modification Unit – 9: Microbial Genetics Genetic analysis of bacteria Bacterial transformation Conjugation (sex factor, Hfr strain, F’ factor) Conjugational mapping. Transduction in Bacteria (General and Specialized) References: Genetics – Peter. J. Russell. Modern Genetic Analysis – Griffth Genetics – A Continuity of Life – Daniel Fairbanks, Ralph Anderson. Concepts of Genetics – Klug and Cummings. Principles of Genetics – Hartt and Jones. GN 5 B 07 : CORE COURSE VII Medical Genetics Total – 54 hrs Unit- 1: Principles of Human Genetics (2 hrs) History, Origin of medical genetics, classification of genetic disease, definitions, impact of genetic disease, major new developments. 8 Unit- 2: Biochemical Genetics (7 hrs) Overview of inborn errors of metabolism Disorders of urea cycle, lipid metabolism, purine/ pyrimidine metabolism, amino acid metabolism. Unit- 3: Genetic Factors in Common Diseases Genetic susceptibility to common disease - (7 hrs) Diabetes mellitus, hypertension, coronary artery disease, Schizophrenia, Alzheimer’s disease. Unit- 4: Genetics of congenital abnormalities (5 hrs) Definition and classification of both defects, genetic cause of informations. Environmental agents (teratogens). Unit- 5: Chromosomal disorders (9 hrs) Chromosome – Nomenclature, banding and karyotyping Disorders of Autosomes – Numerical abnormalities Downs syndrome, Edwards syndrome, Patau syndrome. Translocation – Philadelphia, Down’s, Berkitt’s lymphoma, Duplication, Inversion, Ring chromosome. Disorders of sex chromosome- Turner, Klinefelters, XYY syndrome. Unit- 6: Single Gene Disorders (9 hrs) Autosomal Dominant Achondroplasia, NF, Adult polycystic kidney Autosomal Recessive Cystic fibrosis, Sickle cell Anaemia X- Dominant Rett syndrome X linked rescessive Haemophilia, DMD Trinucleotide repeat syndromes Huntington’s, Fragile-X. Multifactorial Cleft lip and palate, Diabetes, Rheumatoid-artheritis Unit- 7: Linkage Analysis in Humans (8 hrs) Recombinants and Non recombinants Genetic and physical map distance Genetic markers Two point mapping, multipoint mapping 9 Unit- 8: Pharmacogenetics (7 hrs) Definition, Drug Metabolism, Genetic variation revealed solely by the effects of drugs (N- acetyl transferase activity, succinyl choline sensitivity, G-6 PD variants, malignant hypothermia, alcohol metabolism). Hereditary disorders with altered drug response. Porphyria, Haemoglobinopathy, Gout Pharmacogenomics References: Emery’s– Elements of Medical Genetics Strachan and Read – Human Molecular Genetics Thompson and Thompson – Medical Genetics. GN 6 B 09 : CORE COURSE IX Developmental and Behavioral Genetics (Total – 54 hrs) Unit- 1: Germ Cells and Fertilization (4 hrs) Germ cells Spermatogenesis Oogenesis Fertilization and Gastrulation Unit- 2: Molecular Aspects of Development (13 hrs) Maternal effect gene Gap gene Pair rule gene Segment polarity genes Homeotic genes Unit- 3: Genetics of Embryonic Development in Drosphila Overview of Drosophila development Zygotic genes and segment formation Unit- 4: Flower Development in Arabidopsis (12 hrs) (5 hrs) Development Role of Homeotic Selector Gene Unit- 5: Genetic Control of Behaviour (20 hrs) 10 Introduction Behaviour in invertebrates Honeybee, Drosophila, Mice and Dog Human behaviour - Genetic basis of alcoholism, genetic basis for sexual orientation. Courtship behaviour in various animals. References: The cell – Bruce Alberts Emery’s Elements of Medical Genetics-Robert. F. Mueller, Ian. D. Young. Principles of Development - Wolpert Principles of Genetics – Snustad, Simmons, Jenkins. GN 6 B 10: CORE COURSE X BIOINFORMATICS Unit I Introduction to bioinformatics, pattern recognition and prediction, biological databases, primary and secondary sequence databases, composite protein sequence databases, pair wise alignment technique; database searching NCBI, EMB, FASTA, BLAST BITS etc. algorithms and programmes, comparison of two sequences, global and local alignment – multiple sequence alignment; phylogenetic analysis. Unit II DNA sequence data bases, features of DNA sequence analysis, approaches of gene hunting, cDNA libraries, ESTs and EST analysis, general study of software packages, primary design for molecular biology. References 1. Introduction to Bioinformatics: by T.K. Altwood, D.J. Parry-Smith and S. Phukan. 2. Bioinformatics: Sequence and Genome Analysis David. W. Mount. 3. Bioinformatics: Genes, Proteins, and Computers by C.A. Orengo, D.T. Jones and J.M. Thornton GN 6 B 11: CORE COURSE XI GENETICS AND SOCIETY Total – 54 hrs Unit- 1: Genetics and Society (7 hrs) Brief overview Theory of natural selection Application to organic evolution and its social impact. Inherited traits and ethnic groups 11 Unit- 2: Human Genome Project and Its Impact Unit- 3: Testing, Screening and Prevention of Genetic Disease (5 hrs) (10 hrs) Carrier detection and pre-symptomatic diagnosis. Prenatal diagnosis of genetic disease – invasive and non-invasive Pre-implantation genetic diagnosis Unit- 4: Ethical Issues (5 hrs) Ethics Principles – informed consent, informed choice, autonomy confidentiality. Ethical considerations – prenatal diagnosis, population screening, family screening, embryo research, gene therapy. Unit- 5: Genetic Counseling (10 hrs) Definition Establishing the diagnosis Calculating and presenting the risk Discussing the options, communication and support outcomes in genetic counseling. Unit- 6: Eugenics (7 hrs) Effect of eugenic selection Positive and negative eugenics Euthenics Euphenics Unit- 7: Legal Protection and IPR in Genetics (10 hrs) Patenting – Microbes, Genes, Traits, Techniques. Plant and Animal Genetic Protection right and implication of protection. References: Emery’s– Element of Medical Genetics – Ian. D. Young, Robert. F. Mueller. Genetics-Fairbanks, Ralph. Genetic Counseling – Diane. L. Baker, Jane. L. Schuette, Wendy. R. Uhlmenn. 12 GN 6 B 12: CORE COURSE XII Open Course - II (for B.Sc. Genetics) GN 6 B 12 (E1) -Course. I: Cancer Genetics Unit- 1: Cancer Cell and Its Properties Clonal nature of cancer Proposed theories of carcinogenesis. Causes of cancer Radiation carcinogenesis – radiation and human cancer temporal stages of radiation action. Genetic effects of ionizing radiation. Virus and oncogene activation by radiation. Interaction of radiation and chemical carcinogenesis. Unit- 2: Chemical Carcinogenesis Tumor initiation Tumor promotion and progression. Virus and Human Cancer – Small and large DNA viruses, retroviruses. Induced neoplasia. Unit- 3: Methods in Cancer Cytogenetics. Chromosome preparation from bone narrow aspirates, peripheral blood and solid tumor samples. Inherited susceptibility to cancer – genetic markers of cancer predisposition, chromosome instability, familiar cancer. Chromosome abnormalities in chronic myeloid leukaemia Philadelphia chromosome – clonal evolution. Unit- 4: Cytogenetics of Chronic Lymphocytic leukaemia. B-CLL and T-CLL Chromosome abnormalities in acute non-lymphocytic leukaemia Secondary acute leukaemia. Non-random chromosome changes in acute lymphoblastic leukaemia Molecular genetic aspects. Cytogenetics of pre leukaemia – myelodysplastic syndromes, mycloproliferative disorders. Cytogenetic findings in malignant lymphoma- Hodgkin’s disease, Burkitt’s lymphoma, nonburkitts, non-Hodgkin lymphoma. Unit- 5: Clonal chromosome aberration in solid tumors Oncogenes and Human Cancer 13 Cellular oncogene families Mechanism of activation of oncogenes. Cellular oncogene products Tumor suppressor genes References: Cancer Cytogenetics Molecular Biology of Cancer- F. Mac Donald, C.H. Ford. Genetics of Cancer-Sherbet. G.V. and M.S. Lakshmi GN 6 B 12 (E2) - Course II: Environmental Genetics Unit- 1: Mutagenesis Spontaneous and induced mutation Somatic and germ cell mutation Gene mutation and chromosomal mutation Unit- 2: Mutagens Physical, chemical and biological agents Submammalian systems for mutagenecity assessment - Salmonella (Ames Test), E. coli, yeast and Neurospora, Drosophila-life cycle, culture and maintenance of the organism. Procedures for assessment of genotoxicity Higher plants - gene mutation in Tradescantia – Allium test Unit- 3: Mammalian Systems for Mutagenecity Assessment. Mouse – cytogenetic procedures and techniques to assess gene mutation. In vitro mammalian system for mutagenecity evaluation. Human lymphocytes, fibroblasts and Chinese hamster cells in culture Unscheduled DNA synthesis. Chromosomal aberrations. Sister chromatid exchanges. Gene mutation-HGPRT & TK. Unit- 4: Carcinogenesis and Teratogenesis Interrelationship between mutagenesis and carcinogenesis. Test for evaluation Teratogenesis- mouse as a test system Congenital anomalies Teratogens in comparison with mutagens and carcinogen 14 Birth defects in man. Unit- 5: Modification of mutagenic damage. Antimutagenesis and Desmutagenesis Molecular techniques to detect mutations. Interaction of chemical mutagens and radiation with genetic material. Electromagnetic spectrum. Biological effects of ionizing radiation and ultraviolet rays. Radio sensitizers and radio protectors. Mutation and health. GN 6 B 12 (E3) -Course III: Human Biochemical Genetics Unit- 1: Biochemical and Molecular basis of some important human disease. Inborn errors of aminoacid metabolism PKU, Alkaptonuria, Homocystinuria, Histidinuria, Albinism. Diseases involving lysine and ornithine Transcarbamylase deficiency. Unit- 2: Inborn Errors of Carbohydrate Metabolism Galactosemia, Diabetes mellitus, Lactic acidosis, G-6PD deficiency and glycogen storage disorders. Inborn error of nucleic acid metabolism: Lesh Nyhan Syndrome, Gout and Pseudo-gout, Xeroderma pigmentosa. Unit- 3: Haemoglobinopathies: Classification Globin gene mutation Thalassemias Sickle cell anemia Other haemoglobin variants Unit- 4: Lysosomal Storage Disorders Mucropolysaccharidoses and Lipidosis. Other genetic disorders: cystic fibrosis, muscular dystrophies, alpha-1 anti trypsin deficiency. Unit- 5: Genetic Registers and Prevention of Inherited Diseases 15 GN 6 B 13 (Pr): CORE COURSE XIII PROJECTS/VISITS 1. Field study on gene and genotype frequency of autosomal and sex-linked Mendelian traits in Humans. Data to be generated by each student from among the college students and submit the project work. 2. Visit to Genetic clinics and submit the report. 3. Study tour to premier plant and/or Animal breeding centers. 4. Biometrical problems a) Quantitative inheritance: Problems on kernel colour in wheat, ear length in maize, body size in poultry and rabbits. b) Genetics problems on portioning polygenic variability. c) Genetics problems on heritability, ogenetic advance and correlations. 5. Chemical mutagenesis in plants/Drosphila. 6. Physical mutagenesis in Drosophila. 7. Human Karyotyping. 16 PRACTICALS GN 2 B 02 (P) - CORE COURSE II: Cell biology 1. STAINING TECHNIQUES a) Mitochondrial staining in yeast using Janus green b) Gram staining: E. coli/ Lactobacillus c) RNA and DNA staining by methylgreen and pyronin 2. TEMPORARY SQUASH PREPARATION a) Onion root tip for mitosis b) Grasshopper testis for meiosis GN 3 B 03 (P) - CORE COURSE III: Basic Genetics 1. CULTURING AND HANDLING OF DROSOPHILA MELANOGASTER a) b) c) d) Cleaning and sterilization of culture bottles. Media preparation. Handling of Drosophila. Isolation of virgins. 2.STUDY OF MORPHOLOGY OF DROSOPHILA MELANOGASTER a) Male and female. b) Dissection of sex comb, wings and genital plate. 3. STUDY OF MUTANTS IN DROSOPHILA MELANOGASTER 4. DISSECTION OF SALIVARY GLAND AND BRAIN FROM DROSOPHILA LARVAE. 5. GENETIC PROBLEMS a) Multiple alleles b) Gene interaction 6. BREEDING EXPERIMENTS IN DROSOPHILA MELANOGASTER a) Monohybrid b) Dihybrid c) Sex-linked 17 GN 4 B 04 (P) -CORE COURSE IV: Cytogenetics and Evolutionary Genetics 1. BARR BODY ANALYSIS IN CHEEK EPITHELIUM 2. BLOOD SMEAR STUDY OF DRUMSTICKS IN NEUTROPHILS 3. PREPARATION OF POLYTENE AND METAPHASE CHROMOSOMES FROM SALIVARY GLAND AND BRAIN OF DROSOPHILA LARVAE. 4. INDUCTION OF POLYPLOIDY IN ONION ROOTS TIPS USING COLCHICINE. GN 5 B 05 (P) - CORE COURSE V: Molecular Biology & Molecular Genetics 1. EXTRACTION OF DNA FROM a) CAULIFLOWER b) HUMAN BLOOD 2. AGAROSE GEL ELECTROPHORESIS OF DNA SAMPLES 3. ISOLATION OF PLASMID FROM E.COLI 4. TRANSFORMATION 5. CONJUGATION GN 6 B 07 (P) CORE COURSE VII: MEDICAL GENETICS 1. MANUAL KARYOTYPING OF NORMAL AND ABNORMAL METAPHASE CHROMOSOME SPREADS (FROM PHOTOGRAPHS 2. PEDIGREE ANALYSIS 3. STUDY OF MENDELIAN TRAITS (A) CURLY HAIR, (B) HYPERTRICHOSIS, (C) WIDOW’S PEAK, (D) DIMPLE CHEEK, (E) BROWN EYE AND BLACK EYE, (F) HITCH HIKER’S THUMB, (G) MID-DIGITAL HAIR, (H) PTC SENSITIVITY, (I) ATTACHED AND DETACHED EAR LOBES. 4. DERMATOGLYPHICS RECORDING OF FINGERTIPS AND PALM GN 6 B 09 (P) - CORE COURSE IX: Developmental and Behavioural Genetics 1. STUDY OF DEVELOPMENT IN CHICK EMBRYO 2. DISSECTION OF IMAGINAL DISC IN DROSOPHILA LARVAE. 3. INSTRUMENTATION 18 GN 6 B 10 (P) - CORE COURSE X: BIOINFORMATICS 1. DATABASE SEARCHING- NCBI, EMBL. 2. SEQUENCE RETRIEVAL - NUCLEOTIDE, PROTEIN, ESTS, ORF 3. SEQUENCE ALIGNMENT-FASTA, BLAST GN 5 D - Open Course- I GN 5 D 01 -Course I (V Semester) for Courses other than B.Sc. Genetics : Understanding Basic Concepts in Genetics Total hrs: 54 hrs Unit- 1: Basic Ideas in Genetics At cellular and molecular level Unit- 2: Tracing the Inheritance of Diseases Chromosome - study and pedigree analysis. Unit- 3: DNA - Molecule of the Century It’s Structure and Function Unit- 4: Human Genome Project Deciphering the genetic molecule Testing and screening of genetic diseases and treatment. Unit- 5: Human Genetics Education for preventing inherited diseases Promises, hopes, worry. References: New Biology and Genetic Diseases – Bakhtaver. S. Mahajan. Medha. S. Rajadhyaksha. GN 5 D 02-Course II: Human Genetics Total hrs: 54 hrs Unit- 1: Basic Ideas in Genetics At cellular and molecular level Unit- 2: Chromosomes Human Genome, Type of Chromosome Inheritance pattern Unit- 3: Genetic Disorders 19 Chromosomal Single gene and multifactorial disorders Unit- 4: Diagnostic Techniques Cancer detection Pre-symptomatic and prenatal diagnosis Unit- 5: Genetic Counseling: Bioethics References: Genetic Counseling – Diane. L. Baker, Jane. L. Schuette, Wndy. R. Uhl Menn. Thompson and Thompson. Emery’s Elements in Medical Genetics – Ian. D. Young. GN 5 D 03Course III: Applications of Genetics Unit- 1: Basic Ideas in Genetics At cellular and molecular level Unit- 2: Genetics in Medicine and Forensics Unit- 3: Genetics in Agriculture and Industry Unit- 4: Legal and Ethical Issues in Genetics 20 COMPLEMENTARY COURSES 1. BIOCHEMISTRY 2. BIOTECHNOLOGY 21 1STCOMPLEMENTARY COURSE PAPER 1 - ELEMENTARY BIOCHEMISTRY (1) (36h) Unit I. Physical Aspects (20h) Fundamentals of the following: Law of mass action- statements and explanations, the equilibrium constants of ions, electrolytes and non-electrolytes. Brönsted’s definition of acids and bases. Meaning of normality, molarity, molality, actual acidity and titrable acidity of solutions. Dissociation of water. Concept of pH and pOH. Simple numerical problems involving determination of H+, OH-, pH and pOH. Elementary study of methods to determine the pH (a)theoreticalcalculations, (b) using indicators, (c) using pH meter. Dissociation of weak acids- Henderson-Hasselbalch equation, simple numerical problems involving application of this equation. Shapes of titration curves of strong and weak acids and bases. Meaning of Ka and pKa values. Buffers and buffer actions. Simple numerical problems on buffer composition. Fundamental principles of diffusion and osmosis. Definition of osmotic pressurerelationship of osmotic pressure to gas laws. The general equation for dilute solutions (p=g/mRT). Problems involving the general equation- influence of ionization and molecular size on osmotic pressure. Fundamental study of Donnan equilibrium and dialysis. Meaning of colloidal solutions and coarse suspensions, crystalloids and colloids. Elementary study of charge on colloids and Tyndall effect. Lyophilic and lyophobic colloids. Emulsions and emulsifying agents. Classification of isomerism with examples. Basic ideas about hydrogen bonds and weak interactions. An example for the following type of reactions – oxidation, reduction, substitution, addition, elimination, condensation and decarboxylation. 22 Unit II. Blood and other body fluids (8h) Blood – functions, plasma proteins. Special proteins in blood. Acid base balance and maintenance of pH of blood – biochemistry of blood clotting. Brief account of the function and composition of lymph, interstitial fluid, cerebrospinal fluid, synovial fluid, bile, seminal fluid, saliva, gastric juice, tears, milk, urine, sweat and feces. Unit III. Modern techniques in Biochemistry (8h) Principles and application of: (a) chromatography (paper, thin layer, gas, HPLC, gel filtration), (b) electrophoresis (paper, PAGE, immunoelectrophoresis), (c) absorption photometry (colorimetry and spectrophotometry), (d) centrifugation, (e) radioimmunoassay. 1ST COMPLEMENTARY COURSE PAPER II - ELEMENTARY BIOCHEMISTRY- 2 (36h) Unit I. Carbohydrates (10h) Isomerism of carbohydrates, relationship- D and L forms of glyceraldehyde – examples of epimers, mutarotation and its explanation by ring structures, anomers, structure (linear and cyclic structures of glucose, galactose, mannose and fructose). Reducing actions. Sugar derivatives. Structure of methyl β- D glucopyranose, 2- deoxy β- D ribofuranose. Structure of the following disaccharides (Haworth perspective formulas- maltose, isomaltose, sucrose, lactose trehalose and cellobiose (elucidation of the structures of mono-, di-, and polysaccharides is not included). Structure and important properties of the following polysaccharides – amylose, amylopectin, glycogen, cellulose and chitin. Heteropolysaccharides, classification and functions. 23 Unit II. Lipids (6h) Basic ideas about physiological functions of lipids. Fatty acids – classifycation, structure of the following fatty acids – stearic acid, oleic acid, linoleic acid. Structure of triacylglycerol. Saponification. Structure of phosphatidic acid, lecithin, cephalin, and phosphatidyl serine. Sphingo lipids. Definition of saponification number, acid number and iodine number of fats. Chemical structure and functions of cholesterol and ergosterol. Unit III Aminoacids and Proteins (12h) Basic ideas about physiological functions of proteins – Name (with abbrevia-tion) and structures of the 20 important aminoacids occurring in proteins. General chemical reactions of aminoacids. Representation of alanine, in the zwitter ionic form. Elementary study of primary, secondary, tertiary and quaternary structure of proteins. The general methods of proteolysis. Identification and estimation of aminoacids. Sequencing of proteins (only basic principles of the methods employed). Denaturation of proteins, precipitation reactions and colour reactions of proteins. Unit IV Nucleic acids (8h) Classification of nucleic acids. uracil and thymine. Chemical structure of adenine, guanine, cytosine, Structure of adenosine, primary and secondary structures. AMP and ATP. Structure of RNA- Structure of DNA – regularities in base compositions. Watson and Crick model of DNA. 24 1STCOMPLEMENTARY COURSE PAPER III - ENZYMOLOGY AND METABOLISM (1) (54h) Unit I. Enzymes (20h) History of Enzymology.Classification of enzymes; six major classes of enzymes with one example each. Elementary study of the following factors affecting velocity of enzyme-catalysed reactions – effect of substrate concentration, enzyme concentration, temperature and pH; Michaelis Menten equation (without derivation)., Km and its significance The Lineweaver- Burk plot. Definition of enzyme specificity – an example each for group specificity, optical specificity, geometrical specificity and cofactor specificity of enzymes from the pathways to be studied this year. Explanation of competitive and non competitive type of inhibition, their destination on the basis of double reciprocal plot, brief study of allosteric inhibition with an example. Brief study of the activation of zymogen form of enzymes. Activation of SH enzymes and activation of enzymes by prosthetic groups, coenzymes and metal activators. Brief study of allosteric activation with example. Industrial enzymes (preliminary study). Unit II. Anaerobic Metabolism of Carbohydrates (15h) Introduction to metabolism. Digestion of carbohydrates and absorption. Reactions of glycolytic sequences with the names of enzymes and intermediates (without structures). Fate of pyruvate in alcoholic fermentation. Outline study of glycogenesis and glycogenolysis. Role of cyclic AMP and hormones in glycogen metabolism. Gluconeogenesis and pentose phosphate pathway (only outlines without structures of intermediates). Unit III. Muscular contractions (3h) Name of different proteins in muscles-the sliding filament theory-energy source for muscle contraction. 25 Unit IV. Aerobic Oxidation of Carbohydrates (10h) Decarboxylation of pyruvate – reactions of citric acid cycle (without structures of intermediates) only outline expected. Calculation of energy yield (as ATP) of aerobic and anaerobic oxidation of carbohydrates. The mitochondria – arrangement of electron carriers in the electron transport chain. Substrate level phosphorylation – site of ATP formation in the chain (Mechanism of ATP formation not expected). Classification of high energy compounds with an example each. Phosphate potential, principle of reversible reaction. Unit V. Photosynthesis (6h) Outline of cyclic and non cyclic photophosphorylation- outline study (without structures) of the path of carbon in the dark reaction (Calvin cycle), glyoxylate cycle, significance. 1STCOMPLEMENTARY COURSE PAPER IV – METABOLISM ( 2) (54h) Unit I. Metabolism of Lipids (10h) Outline study of lipid digestion and absorption. Outline study of β-oxidation scheme (without structures). ATP yield in β-oxidation – outline study (without structures) of the cytoplasmic systems of fatty acid biosynthesis. Physiological functions of phospholipids. Outline study of cholesterol synthesis without structure. Inborn errors of metabolism. Unit II Metabolism of Aminoacids and Proteins (10h) Proteolytic enzymes of the gastrointestinal tract and their activation (from zymogen forms). Classification of proteins based on catabolism. Absorption of aminoacids from the intestine – an example each indicating decarboxylation, deamination and transamination of aminoacids (without molecular mechanisms). Urea cycle. Metabolism of glycine, phenylalanine, tyrosine, ammonia. Unit III Genetic aspects of metabolism (16h) 26 Central dogma, the chemical nature of gene- replication of DNA, coding for aminoacids by triplets of bases and transcription of DNA. Types of RNA, their structural features, their role in protein biosynthesis- fundamental study, translation of mRNA – the ribosomal events. Post transcriptional and translational modifications, genetic code, inhibitors. Unit IV Vitamins and Hormones (9h) Classification, source, chemical nature and deficiency disorders of vitamins. Basic physiological functions of vitamin C, B1, B2, pyridoxine and niacinamide (chemical structures not expected). Biochemical reactions involving TPP, FMN, FAD, NAD+, NADP+, PLP, CoA and biotin from metabolic sequences prescribed to be studied in other chapters. Fat soluble vitamins A,D,E,K. Physiological functions daily requirements, etc. Classification, mechanism of action (preliminary study), site of biosynthesis, important physiological functions of thyroxine, insulin, glucagon, epinephrine, glucocorticoids and growth hormones. Unit V: Mineral Metabolism (9h) Sodium, potassium, iron, copper, iodine, fluorine, selenium – biological role and nutritional importance. Introduction to Secondary Plant Products (types, source, and functions) Reference books: 1) E.S. West, W.R. Todd, H.S. Mason and J.T. Van Bruggen.. Text book of Biochemistry. Pub. The Macmillan Company, Collier-Macmillan Ltd., London 2) Medical Biochemistry : Ramakrishnan 3) Text Book of Biochemistry : D.M. Vasudevan 4) Text Book of Biochemistry: A.C. Deb 5) Plant Metabolism: H.D. Kumar and H.N. Singh Pub. Affiliated East-West Press Pvt. Ltd. New Delhi 6) Principles of Biochemistry: Worth Publishers A.L. Lehninger, D.L. Nelson and M.M. Cox. 1STCOMPLEMENTARY COURSE Practicals 27 1. Preparation of solutions percentage solutions, (ii) molar solutions, (iii) normal solutions Standardisation of pH meter, preparation of buffer, principles of colorimetry and verification of Beer-Lambert law. 2. Qualitative analysis Carbohydrates- general reactions of carbohydrates (mono, di and polysaccharides) Molisch test, anthrone reaction, phenol -sulphuric acid reaction. Specific reactions of reducing sugars – Benedict’s test, Fehling’s test picric acid test ,ferricyanide test. Scheme for analysis of biochemical solution containing a single component; carbohydrate (starch, reducing sugar, ketose), protein (Biuret test, ninhydrin, solubility pattern, xanthoproteic test, millons test, glyoxylic acid test, nitroprusside test, precipitation by heavy metal ions and alkaloidal reagents) 3. Quantitative analysis Glucose estimation by Benedict’s method, anthrone or arsenomolybdate methods) Aminoacid estimation by Ninhydrin method Protein estimation by Biuret method. Protein estimation by Lowry et al. method. Cholesterol estimation by Zak’s method. DNA estimation by diphenylamine method & RNA estimation by orcinol method 4. Demonstration experiments Demonstration of paper chromatography and TLC Digestion of starch by salivary amylase. References 1. Practical Biochemistry :Plummer 2. The Tools of Biochemistry: Cooper, T.G. . Pub. John Wiley & Sons. 3. Practical Biochemistry: K.E. Van Holde 28 2ND COMPLEMENTARY COURSE Paper I - Industrial and Environmental Biotechnology (36 hrs) I. Introduction to microbial fermentation. Range of microbial fermentation processes. Flow chart of typical industrial fermentation process. Concept of value addition, shelf life improvement, low-volume high value and high-volume, low-value products (3 hr) II. Isolation of industrially useful microbes from soil, air and water. Microbial screening producers. Fermentation media and sterilization of media. Fermentation equipment and use. Inoculum preparation and scale up of fermentation. Downstream processing including filteration, centrifugation and chromatographic techniques (5 hr) III. Typical fermentation process. Acetic acid and penicillin. Large scale cultivation of plant cells in bioreactors. Animal cell culture and production of animal cell based products (vaccines) using bioreactor. (5 hr) IV. Intellectual Property Rights: forms of IPR criteria for securing patents, IPR in Biotechnology. Current status and novel trends in EBT water microbiology: sources of micro org: E. coli as indicator, water purification methods: sedimentation, filtration and chlorination. Bacteriological examination of water:- presumptive confirmed and completed test (8 hr) V. Municipal waste and industrial effluent treatment and disposal:- mechanical treatment, biological treatment:- activated study, biological filters and anaerobic treatment. Bioenergy from waste Biogas production from food waste Biosorption and Bioplastics References 1) Stanbury: Fermentation technology 2) Jogdand : Industrial Biotechnology 3) Indushekar Thakur: Industrial Biotechnology 29 2ND COMPLEMENTARY COURSE Practicals : Industrial and Environmental Biodiversity 1. Isolation of antibiotic producing microorganisms from soil. 2. Determination of probability of water samples by detecting coliforms. 3. Determination of dissolved oxygen concentration of water sample. 4. Study of biogenic methane production from different habitats. 2ND COMPLEMENTARY COURSE Paper II - Animal Biotechnology and Immunology 36 hrs History and scope of animal tissue culture, types of animal tissue culture, Advantages and disadvantages of Animal tissue culture. (3 hrs) Substrates used for animal tissue culture, Types of culture media, Types of cell lines in animal tissue culture (2 hrs) Initiation of cell culture:- Isolation and disaggregation of explants, culturing of cell lines and maintenance. Large scale culture of monolayer cultures suspension and immobilized cell culture (5 hrs) Application of animal tissue culture: Gene transfer methods, transgenic animals (mice, rabbit, goat, fish), Invitro fertilization in humans, embryo transfer in cattle, Animal cloning, Molecular pharming Tissue engineering (Artificial skin and cartilage) (5 hrs) Introduction to immune systems:- Types of immunity cells and organs of immune system (5 hrs) Structure of antigen, antibody, Brief account on humoral and cell mediated immune response (5 hrs) 30 Applications:- Hybridoma technology and Production of monoclonal antibody, Uses of monoclonal antibodies, Interferous, Vaccines. (6 hrs) Biotechnology in medicine:- Disease diagnosis, Gene therapy and forensic medicine (5 hrs) References 1. Animal cell culture methods by Jennie. P. Mathur, David Barnes, Vol. 57, Academic Press. 2. Animal cell culture, A practical approach, II edition, Edited by R.I. Freshney 3. Culture of animal cells. A manual of basic technique R. Ian Freshney 4. Biotechnology. B.D. Singh 5. Immunology – Kaby 6. Immunology – Roitl. 2ND COMPLEMENTARY COURSE Practicals- Animal Biotechnology and Immunology 1. ABO Blood grouping 2. Antigen-Antibody interaction;- Radial immuno diffusion. 3. Protocol of immunization in animals. 4. Differential counting of blood cells. 31 2ND COMPLEMENTARY COURSE Paper III - Plant Biotechnology (36 hrs) Laboratory organization of plant tissue culture, medicine preparation and sterlization, explant selection and inoculation, growth regulations. (3 hrs) Types of cultures Anther culture, Meristem culture, Ovaryculture, Ovule culture, Endosperm, Embryoculture. Detection and Uses. (3 hrs) Micropropagation, clonal propagation applications, callus culture and applications (5 hrs) Monoclonal variation and significance in crop improvement (3 hrs) Protoplast isolation and fusion methods, selection of hybrids, applications of hybrids in crop improvement (5 hrs) Genetic manipulation in plants-vectors used for transformation of plants (Plasmid vectors Ti, Ri, Viral Vectors) Direct gene transfer methods implants, reportesgenes (7 hrs) Transgenic plants for insect resistance, virus resistance, plant derived vaccines, safety regulations for transgenic plants (10 hrs) References 1. Developments, in crop science, S.S. Bhojwani and M.K. Razdan. Plant tissue culture theory and practice. 2. Plant cell, tissue and organ culture, fundamental methods, O.L. Gamborg, G.C. Phillips. 3. Trends in plant tissue culture and biotechnology, L.K. Pareek., P.L. Swarnkar. 32 2ND COMPLEMENTARY COURSE Practicals - Plant Biotechnology 1. Media preparations (a) Stock preparations - Macro and micronutrients, Hormones, Vitamins (b) pH adjustments (c) Sterilization 2. Explants collections and surface sterilization. 3. Practices in laminar flow chamber. 4. Inoculation Monitoring for callus induction and regeneration. 2ND COMPLEMENTARY COURSE Paper IV - Recombinant DNA Technology (36 hrs) 1.Introduction to recombinant DNA technology. Scope and applications (2 hr) 2. Isolation and purification of DNA (3 hr) 3. Gene cloning – enzymes and basic tools (4 hr) Cloning vectors – plasmids, phages, cosmids, transposons, yeast vectors, plant and animal viral vectors, binary, cointegrate, shuttle vectors (8 hr) 4. Techniques in recombinant DNA technology DNA sequencing methods, Hybridization techniques, Blotting techniques (Northern, southern, western), in situ hybridization, PCR and its modifications. Genetic markers, molecular markers – RAPD, RFLP, AFLP, DNA fingerprinting. (10 hr) 5. Introduction of recombinant DNA into bacterial, plant and animal cells. (4 hr) 33 6. Applications of recombinant DNA technology – production of recombinant proteins, transgenic plants, transgenic animals, recombinant vaccines, subunit vaccines etc. (5 hr) References 2. Watson, T.D. Gitman, M., Witkowski, J. and Foller, M. 1992. Recombinant DNA, second edition, Scientific American Books, W.H. Freeman and Co, New York. 3. Old, R.W. and Primrose, S.B. 1994, Principles of gene manipulation, An introduction to genetic engineering, Blackwell Scientific Publication, 5th edition. 4. Recombinant DNA technology, T.A. Brown. 2ND COMPLEMENTARY COURSE Practicals : Recombinant DNA Technology 1. Isolation of DNA 2. Gel Electrophoresis 3. Demonstration of PCR amplication of DNA 4. Induction of Lac operon. 34 MODEL QUESTIONS 35 CELL BIOLOGY I. Answer all the questions Fill in the blanks 1. Cytoplasmic organelles absent in ----- cells. (Eukaryotic, Prokaryotic) 2. In the light microscope the limit of resolution depends on the ----- of the light and numerical aperture. (Frequency, Wavelength, Velocity) 3. ----- permits a direct study of biological ultrastructure. (Election microscope, phase contrast, compound) 4. The properties of a given organism depend on those of its -----. (DNA, RNA, proteins, individual cells, genes) II. Match the following 5. Nucleus (A) Glycosylation 6. Mitochondria (B) Intracellular digestion of food particles 7. Golgi apparatus (C) RNA processing 8. Lysosomes (D) Oxidative phosphorylation 9. ----- are the largest family of cell-surface receptors. 10. A cell will activate a suicide program and kill itself- a process called -----. 11. No is made by the enzyme ----- by the deamination of the amino acid arginine. 12. ----- can be considered the final separation of the already duplicated macromolecular units. 13. Darkfield microscopy, also called -----. 14. The transition between prophase and metaphase is called -----. 15. Signalling molecules are secreted from the signalling cell by -----. 16. Cyclic AMP is synthesised from ----- by a plasma-membrane-bound enzyme adenylyl cyclase. 36 17. The nerve terminals contact their target cell at specialized cell junctions called -----. 18. ----- are ancestors of mitochondria. 19. ----- are membrane-bound vesicles containing hydrolyzing enzymes capable of breaking down complex substances. 20. The simplest eukaryotes are -----. III. Short Answer 21. Define cell theory 22. Functions of endoplasmic reticulum. 23. Resolving power. 24. Cell cycle. 25. FACS 26. Principle of centrifugation. IV. Short Essays 27. Difference between prokaryotes and Eukaryotes. 28. Apoptosis. 29. Difference between light microscope and Electron microscope. 30. Note on special types of chromosomes. 31. Explain cell division present in germ cells of sexually reproducing organisms. 32. Pathways of intracellular signal transduction. Basic Genetics 1. Alleles of ----- genes do not follow X or Y linked pattern of inheritance, instead they are transmitted from mothers and fathers to sons and daughters alike. 2. ----- is a proportion of one allele relative to all alleles at a lower in a population. 3. ----- are alleles that produce independent effects when heterozygous. 4. Two alleles appear to contribute equally to the phenotype of heterozygous, they are said to be -----. 5. ----- is condensed mass of chromatin found in nuclei as a result of X-inactivation. 6. The cross of an F1 hybrid to one of the parental type is -----. 7. Spindle fibre attachment region of a chromosome is -----. 37 8. ----- is individual derived from two embryos. 9. Variation not represented by distinct classes -----. 10. Phenotypic variability involving distinct classes is -----. 11. Genetic material that is not stained to intensely by dyes-----. 12. Genetic material that is darkly stained -----. 13. Monohybrid Cross 14. Narrow heritability sense - b) Cross between homozygous parents differing in two traits. 15. Dihybrid cross 16. Broad heritability - a) Proportion of total phenotypic variance that is the genotype variance. - a) The proportion of phenotypic variance that is due to addictive effects of alleles. sense - Cross between parents differing in only one traits. 17. Penetrance a. Proportion of total phenotypic variance that is the genotype variance. 18. Pleiotropy b. Is interaction between products of non allelic genes. 19. Expressivity c. Is percentage of individuals that show a particular phenotype. 20. Epistasis d. Is degree of expression of a trait controlled by a gene 21. 22. Give an account on dosage compensation. 23. Note on chromosomal theory of hereditary. 24. Hyper activation of X-chromosome with an example. 25. Account on probability. 26. Explain the terms:- Allele, Gene, Dominant, Recessive. 27. Explain gene interaction with example. 28. Give an account on Mendels law of inheritance with example. 29. Difference between genotype and phenotype. 30. Brief note on multiple alleles with suitable examples. 31. Sex determination in detail. 32. Detail note on sex linked genes in humans. Give examples. 33. Detail note on chromosomes. 38 Cytogenetics and Evolutionary Genetics 1. Transmission of a trait through only one parent is known as -----. 2. Submetacentric chromosomes exhibit ----- shape during anaphase. 3. A gene occupies a well defined site or ----- in the chromosome. 4. Chloroplast and mitochondria exhibit ----- type of inheritance. 5. In a breeding programme to improve crop plants which of the following mating systems should be employed to produce a homozygons line in the shortest possible time? a) Self fertilization b) Brother-sister matings c) First cousin mating d) Random mating 6. Monoploid a. 2n 7. Diploid b. 2n + 1 8. Triploid c. 4 n 9. Tetraploid d. n 10. Monosomic e. 2n-1 11. Trisomic f. 3n 12. Telocentric chromosomes are found in ----b) Man c) Mouse d) Drosophila e) Onion 13. Mechanical barrier in isolating mechanism include: b) The difference in the structure of genitalia c) Distance d) Time season 14. The spread of genes from one breeding population to another by migration is known as ----. 15. ----- is the area of biology concerned with chromosome and their implication in genetics. 16. Two geographically separated population are said to be -----. 17. Duplication - b) Rearrangement that reverses the order of linear array 39 of genes in a chromosome. 18. Inversion - c) Change in position of a segment of chromosome to another part of the same chromosome. 19. Deletion - d) Occurrence of a segment more than once in the same chromosome. 20. Translocation - e) Absence of a segment of chromosome. Short Answers 21. Explain Hardy-Weinberg law. 22. Write note on linkage. 23. Define heterosis. 24. Explain theory of selections. 25. Explain translocation. 26. Explain the causes and effects of genetic drift. Short Essays 27. Explain maternal inheritance, taking the examples of Poky and Petite in yeast. 28. What is Tetrad Analysis? 29. Define different modes of speciation. 30. Explain the process of migration in evolution. Long Essays 31. What are isolating mechanisms? Explain. 32. Write a detail account on different chromosomal aberrations. 40 MOLECULAR BIOLOGY AND MOLECULAR GENETICS Objective type questions. Answer all the questions. 1.The nitrogen base which is not present in DNA. a) Thymine b) Adenine c) Uracil d) Cytosine 2. The exchange of corresponding chromosome parts between homologs by breakage and reunion is called -----3. DNA elements that are not essential for the basic operation of the bacterial cell are ------. 4. ------ is a triple – helical form of DNA. a) Z-DNA b) B-DNA c) H-DNA d) A-DNA 5. Origin of replication in E.coli is called -----Match the following 6. DNA polymerase α synthesis of leading strand. 7. DNA polymerase β mitochondria. 8. DNA polymerase λ synthesis of DNA during repair. 9. D-loop replication synthesis of lagging strand. 10. Linear DNA molecules at the ends of a chromosome can only be synthesized by -----enzyme. a) Telomerase b) DNA polymerase III c) Helicases d) RNA Polymerase I 11. RNA polymerase I encodes for a) mRNA b) rRNA c) tRNA 12. TATA box is also called as a) Pribnow box b) Spacer region c) Hogness box d) Shine dalygarno sequence 13. The portion of cellular DNA that contains rRNA genes is called -----14. Large segments of DNA that move from one location to another are called ------. 15. DNA sequence element, when bound by an activator stimulates transcription of a gene. a) Promoter b) Enhancer c) Reppressor d) Operator 16. Class of enzyme that convert DNA from one topological form to another is ------ 41 17. A bacterial distress mechanism that stimulates error-prone repair is -----18. Agents that enter the cell and cause mutation -----19. The complex of enzymes involved in mRNA splicing are called -----a) AP Endonuclease b) Spliceosomes c) 3’-5’ exonuclease d) NOR 20. The transfer of an F’ factor through conjugation in bacteria is known as -----Short Answers 21. What is Shine-Dalgarno sequence? 22. Transition and Transversion. 23. Photoreactivation 24. Describe the central dogma of molecular genetics. 25. Describe the characteristics of post-replicative repair mechanisms. 26. What are mutational hot spots? 27. Brief note on DNA polymerase III holoenzyme. Short Essays 28. Explain post-transcriptional modification. 29. Explain the mechanism of transposition in prokaryotes. 30. Types of point mutations. Long Essays 31. Transcription in Eukaryote. 32. DNA replication in prokaryotes. Medical Genetics 1) ------ is an x-linked recessive disorder (a) DMD (b) NF (c) Diabetes (d) Sickle cell anaemia 2) TDF exhibits ------ types of inheritance. 3) Recombination fraction define a) Physical distance 42 b) Interference c) Genetic distance d) All of the above 4) Invasive method in Prenatal diagnosis is a) α- fetoprotein b) Fetoscopy c) Ultrasound d) All above 5) ------ is due to the deficiency of the enzyme tyrosinase in melanocytes. a) albinism b) cystinuria c) alkaptonuria 6) ------ enzyme is deficient in Phenylketonuria Match the following 7) Alkaptonuria a) Low lipoprotein receptor 8) Citrullinaemia b) Carbamyl synthetase 9) Carbamyl Synthetase deficiency c) Argino succinic acid synthetase 10) Familial hyper cholesterolaemia d) Homogentisic acid oxidase 11) Lesh – Nyhan disease e) Hypoxanthine guanine Phosphoribosyl transferase 12) ------ is the study of genetically determined variation in drug metabolism. 13) ------ is the gene for cystic fibrosis 14) X- linked recessive inheritance a) Affects almost exclusively males b) Affect either sex c) Affects females d) Affects males having an affected father. 15) Cri-du chat syndrome is due to deletion in ------ chromosome. 16) XO is ------ syndrome 17) Cleft-lip and cleft palate is ------ disorder. 18) Rheumatoid arthritis is a ------ disorder. 19) Paternal imprinting is exhibited by ------ syndrome. 43 20) Maternal imprinting is exhibited by ------ syndrome. Short answers 21) Explain trinucleotide syndromes. 22) Explain Recombinants and Non recombinants. 23) Explain the significance of pedigree analysis. 24) Explain Y-inked inheritance. 25) Add notes on Paris nomenclature 26) Give an account on the pathogenesis of Achondroplasia. Short Essay 27) Explain aneuploidy with syndromes. 28) Give an account on teratogens 29) Explain different types of diabetes mellitus. 30) Explain the genetic variation exhibited by the effect of succinylcholine and alcohol. Long Essay 31) Explain different types of inheritance pattern with an example of multifactorial inheritance. 32) Give a detailed account on linkage analysis in human. 33) Developmental and Behavioral Genetics 1. A specialized reproductive cell with a haploid number of chromosome is -----2. ------ is apical organelle in the head of the sperm. 3. A single layered sheet or ball of cells, that follows the morula stage is -----4. A gene that controls the formation of adjacent segments in the body of Drosophila is -----5. An early animal embryo consisting of two layers of cells is -----6. The reproductive cells of egg and sperm is -----7. The process of self fertilization is know as -----8. A mass of cells in the larvae of Drosophila that give rise to particular adult organs such as antennae, eyes and wings are -----9. ------ is a hormone that influences development in insects. 44 10. Internal cell layer of embryo from which lung, digestive tract, bladder and urethra are formed is -----11. Surface layer of embryo that develops into epidermis, skin, nerves, hair, nails are -----12. Cell layer of embryo developing into connective tissue, cartilage, bone, blood vessels, blood, notochord and gonads are -----13. ------ are the primordials of the sperm cells. 14. ------ is a post meiotic process of differentiation of mature spermatozoa. 15. ------ is the primordial female germ cell that is enclosed in a follicle by the term of birth and becomes the oocyte. 16. ------ is a cell formed by secondary spermetocyte. 17. Bicoid gene - b) affect the specialized structures at head and tail ends of embryo 18. Nanos gene - c) lead to a reduction or loss of head and thoracic structure. 19. Torso gene - d) Bicoid protein primarily activates anterior expression of gap gene which in turn activate other zap gene. 20. Hunch back gene - e) Causes the loss of abdominal regions. Short notes 21. Note on zygotic genes. 22. Role of Homeotic selector gene. 23. Genetic basis of alcoholism. 24. Fertilization. 25. Define maternal effect gene. 26. Define behavioural genetics. Short Essay 27. Different development stages in Drosphila. 28. Comment on Behavioural genetics in dog. 29. Brief account on development in Arabidopsis. 45 30. Oogenesis in brief with diagram. Long Essay 31. Detail note on Drosophila Embryogenesis. 32. Detail note on Spermatogenesis. Genetics and Society Objectives Type 1. The rules of animal and human behaviour based on genetic or social traditions is -a) Eugenics b) Ethics c) Euphenics d) Ethnicity 2. Carrier detection can be done in a) Hemophilia c) Huntingtons disease b) Retinoblastoma d) Lymphoma 3. Techniques of identification of individuals based on a pattern of DNA markers in the genomic DNA of an individual is -----4. ------ is an action of force in nature that maintain genetically fittest organism in a habitat. a) Genetic drift b) Natural selection c) Gene pool d) Random mating 5. Insertion of a functional normal gene into the germ cell line of an organism inorder to correct a genetic defect is called ----6. The study of causes of disease and its development is a) ideology b) ethology c) etiology d) eugenics 7. An example for teratogen a) Thalidomide b) Aspirin c) Salicylate 8. Improvement of human race by application of genetic principles to breeding is called ------a) Euthenics b) Ethics c) Eugenics d) Euphenics 9. Presymptomatic diagnosis can be applied to persons with ----- disorders. a) Autosomal recessive b) Autosomal dominant c) X-linked 10. ------ are focussed on the physical mapping and sequencing of entire genome of human. a) Chromosome waling b) DNA sequencing c) Human genome project. 11. ------ is a complete single set of an organism 46 12. ------ is the assumption of superiority of any particular ethnic group. a) Ethnicity b) Stigmatization c) Idealism d) Racism 13. ------ is a strong membrane enveloping the mammalian embryo and fetus containing the fluid. 14. ------ is the outermost envelope of the mammalian embryo. 15. A vector for genetherapy which is not an organism a) Episome b) liposome c) Adenovirus d) Retrovirus 16. ------ is a method of radiological examination of genetic disorder during pregnancy. 17. ------ is an application of genetic principles to the breeding of the human race with the purpose of improvement. 18. ------ is a corrective measures for genetically determined defects with the aid of nongenetic means. 19. ------ determines the health status among the possible nature of causes of a problem with fetus before birth. Short Answers 21. Comment on preimplantation genetic diagnosis. 22. Comment on ‘playing God’. 23. Add notes on Amniocentesis. 24. Ethical considerations in genetic testing. 25. Effect of eugenics. 26. IPR. Short Essays 27. Application of genetics in agriculture and medicine. 28. Qualities of a good genetic counselor. 29. Is genetic testing a boon or curse? 30. Human genome project Long Essay 31. Explain prenatal diagnostic techniques. 32. Give an overview of the ways and means of prevention of Genetic Diseases 47 1ST COMPLEMENTARY COURSE PAPER I - Elementary Biochemistry-1 Section -A Objective Questions Attempt all 20 questions. (Weightage –1) I. 1. Which of the following globulin is important for coagulation? (a) Fibrinogen (b ) Prothrombin (c) Both a & b (d) Haptoglobulin 2. Life span of RBC is (a) 120days (b) 120h. (c) 60days (d) 160days 3. The mean diameter of human erythrocyte is : (a) 7.0 µm (b) 7.2nm (c) 7.2µm (d) 7.0nm 4. Largest leucocytes present in blood (a) Neutrophils (b) Lympocytes (c) Monocyte (d) both b&(c) II. 5. The organ concerned with destruction of platelets (a) Liver (b) spleen (c) Kidney (d) thymus 6. Which sugar is present in seminal fluid? (a) Glucose (b) Fucose (c) Fructose (d) Mannose 7. log Ka is ------------- (a) –Ka (b) pH (c) pOH (d) pKa 8. Importance of Henderson-Hasselbalch equation is in ---------------(a) Buffer (b) Acid base balance (c) Ionoic strength (d) Dissociation III. 9. Which enzyme activates trypsinogen to trypsin? (a) Chymotrypsin (b) Pepsin (c) Enteropeptidase (d) Proelastase 10. The isomers having same molecular formula but difference in the spatial arrangement of atom/groups are called (a) Structural isomers (b) Stereoisomers (c) Geometrical isomers (d) Positional isomers 11. ----------------Chromatography is used to desalt a protein solution. 12. -----------------is the most widely used salt for salting out of proteins IV. 13. ----------------chromatography is used form the determination of molecular mass. 14.----------------leucocyte is responsible for engulfing bacteria 15. HCl is synthesized from -----------------------cells of gastric lining. 16. -------------------leucocyte is responsible for specific immune mechanism. 48 V. 17. The enzyme that hydrolyzes sucrose to component sugars------------------. 18. Which plasma protein helps in the transport of bilirubin. 19. -----------------is the ultrafiltration of plasma 20. The chemical component that is present especially in smoker’s saliva is----------. Section -B Short answer questions. (Weightage- 1) Attempt any six 21. State the Beer-Lambert’s law 22. Write down the composition and function of synovial fluid 23 What is a buffer? Give example. 24. What is oxidation and reduction reaction? Give an example for each 25. Write the principle of affinity chromatography 26. Distinguish between colloidal solution and coarse suspension 27. Write the principle of gel filtration chromatography 28. Give the principle of adsorption chromatography Section -C Short Essay. Attempt any four Weightage 2 29. Write the functions of plasma proteins 30. Explain the classification of isomerism 31. Explain the working principle of pH meter 32. Distinguish between lyophilic and lyophobic colloids 33. Derive Henderson-Hasselbalch equation 34. Write the composition and functions of cerebrospinal fluid 49 Section - D Long essay Answer any two Weightage 4 35. Explain the process of blood coagulation in detail 36. Discuss the functions of blood 37. Explain briefly the techniques involved in macromolecular separation. 1ST COMPLEMENTARY COURSE PAPER II - Elementary Biochemistry- 2 Section- A Objective Questions Attempt all 20 questions. (Weightage –1) I. 1. Mannose is the epimer of (a) Galactose (b) Glucose (c) Fructose (d) Ribose 2. Which of the following is an essential fatty acid (a) Linolenic (b) Stearic (c) Palmitic (d) Oleic 3. Which is not an aromatic amino acid (a) Tryptophan (b) Histidine (c) Proline (d) Phenylalanine 4.Which form of RNA is abundant in cell (a) rRNA (b) tRNA (c). mRNA (d) hnRNA II. 5. Which diasaccharide is having α1→6 linkage (a) Maltose (b) Isomaltose (c) Lactose (d) Sucrose 6. Which polysaccharide acts as an anticoagulant (a) Hyaluronic acid (b) Heparin (c) Chondroitin (d) Keratan sulphate 7. Diphosphatidyl glycerol is known as (a) Lecithin (b) Cephalin (c) Cardiolipin (d) Plasmalogen 8. Which of the following is a monoamino dicarboxylic acid (a) Aspartic acid (b) Asparagine (c) Glutamine 50 (d) Glutathione III. 9. Which of the following is not a pyrimidine base (a) Uracil (b) Thymine (c) Cytosine (d) Adenine 10. Which anomer form of sugar exists in ribonucleotides (a) β-D- ribofuranose (b) α -D- ribofuranose. (c) α -L-ribofuranose (d) α- D-ribopyranose 11.-------------------- is a non reducing disaccharide 12. .--------------------is the most abundant carbohydrate in nature IV. 13.-------------------- amino acid is optically inactive 14. .-------------------- is a calcium binding protein 15.-------------------- is the sweetest sugar 16. Steroid nucleus is -------------------- V. 17. Lipids are soluble in -------------------18. The major esterified fatty acid component in coconut oil is -------------------19. Transport form of lipid is -------------------20. Sugar present in DNA is -------------------- Section- B Short answer questions. (Weightage- 1) Attempt any six 21. What is an essential amino acid?. Give examples . 22. Give the structure of phosphatidic acid 23. What are epimers ? Give examples 24. Give the cyclic structure of fructose. 25. Write the functions of lipids 26. Draw the general structure of tRNA 27. Write the structure of cholesterol 28. What is meant by saponification number ? Section- C Short Essay. Attempt any four Weightage 2 29. What is mutarotation- give explanation with one example 30. Give the structure of following compound lipids (a) lecithin (b) cephalin (c) Phosphatidyl serine 31. Explain the structure of DNA 51 32. Explain the classification of fatty acids 33. Explain the colour reactions of proteins 34. Explain the heterocyclic compounds present in nucleic acids. Section- D Long essay Answer any two Weightage 4 35. Explain the structural organization of protein 36. Explain different types of RNA 37.Compare the structure of starch and cellulose and add a note of enzymatic breakdown of starch. 1ST COMPLEMENTARY COURSE PAPER III - Enzymology and Metabolism Section -A Objective Questions Attempt all 20 questions. (Weightage –1) I. 1 Which is the key enzyme in glycolytic pathway (a) Pyruvate kinase (b) glyceraldehyde 3-phosphate (c) Glucokinase (d) Phosphofructokinase 1. In glycogen metabolism which enzyme is inactive in dephosphorylated form? (a) Glycogen phosphorylase (b) Glucose phosphatase (c) Glycogen synthase (d) Glycogen phosphates 3. In aerobic glycolysis how many molecules of ATP are produced (a) 10 (b) 2 (c) 3 (d) 8 4. Major significance of pentose phosphate pathway is the production of (a) NADP (b) NADPH (c)ATP (d) NADH II. 5. Which is the essential cofactor for pyruvate decarboxylase (a) TPP (b) PLP (c) Biotin (d)FAD 6. Which enzyme is not present in animal tissue (a) Pyruvate carboxylase (b)Pyruvate decarboxylase (c) Alcohol dehydrogenase (d) None of the above 7. In TCA cycle how many ATPs are produced (a) 12 (b) 15 (c) 8 (d)10 52 8. Synthesis of carbohydrate from non carbohydrate sources is called (a) Glycolysis (b) Glycogenesis (c) Gluconeogenesis (d) All the above III 9. Which hormone regulate glycogenesis (a) Glucagon (b) Epinephrin (c) Insulin (d) Cortisol 10. Gluconeogenesis takes place in (a)Cytosol (b )Mitochondria (c) Both cytosol and mitochondria (d) Golgi complex 11. Name the ketopentose synthesized in oxidative stage of pentose phosphate pathway. 12. The catalytic activity of the enolase is inhibited by.-------------------IV 13. Tricarboxylic acid cycle takes place in .-------------------14. The pathway that is involved in the synthesis of glucose from acetyl CoA in plant is .------------------15. Which aldose sugar is synthesized from pentose phosphate pathway? 16. Retenone is the inhibitor of .-------------------- V 17. Marker enzyme of mitochondria is 18. The protein part of an enzyme is.-------------------19. .-------------------- coenzyme involved in carboxylation reaction 20. .-------------------- group of enzyme involved in joining of two molecules Section- B Short answer questions (Weightage- 1) Attempt any six 21. What is mean by allosteric enzyme?. Give one example. 22. Which are the key enzymes in gluconeogenesis 23 What is covalent modification of enzymes? Give one example 24. What is competitive inhibition ? Give examples 25. Outline alcoholic fermentation 26. Name the enzymes and catalytic cofactors involved in decarboxylation of pyruvate. 27. Write Michelis Menten equation, explain the term Km. 28. What do you mean by retro inhibition. Give one example 53 Section- C Short Essay. Attempt any four Weightage 2 29. Explain the role of cAMP in glycogen metabolism 30. Write a short note on enzyme specificity with examples. 31. Explain the factors which affect the rate of the enzyme catalyzed reactions 32. Schematically write the pentose phosphate pathway. Mention its significance 33. Explain the classification of high energy compounds with examples 34. What is multienzyme complex? Explain with one example Section- D Long essay Answer any two Weightage 4 35. Explain the structure of mitochondria and arrangements of electron carriers in electron transport chain 36. Write short notes on: (a)competitive inhibition , (b) Noncompetitive inhibition, (c) Allosteric inhibition. 37. Explain aerobic and anaerobic glycolysis. 1ST COMPLEMENTARY COURSE PAPER IV – METABOLISM (2) Section -A Objective Questions Attempt all 20 questions. (Weightage –1) I 1. Rickets is due to the deficiency of.-------------------(a) Vitamin C (b) Vitamin D (c) Vitamin E (d)Vitamin A 2. ATP yield during the β oxidation of palmitic acid is (a) 149 (b) 131 (c) 129 (d) 12 3. The coenzyme needed for fatty acid oxidation is (a) NAD (b) NADP (c) TPP 54 (d) Biotin 4. Transamination reacation are carried out by.-------------------(a) Aminotransferases (b) Aminoacid carboxylase (c) Aminoacid oxidases (d) Dehydrogenase II5. Rate limiting enzyme in cholesterol biosynthesis is (a) HMG CoA reductase (b) HMG CoA synthase (c) Acetyl CoA carboxylase (d) Cholesterol synthase 6. The metal ion present in hemoglobin is (a) Mg2+ (b) Fe2+ (c) Mn2+ (d) Cu2+ (c)Vitamin B1 (d) Vitamin B12 7. Which vitamin is an antioxidant (a) Vitamin E (b)Vitamin A 8. Diabetes mellitus is due to the deficiency of (a) Insulin (b) Glucagon (c) Epinephrine (d) Inulin III9.-------------------- is the trace element deficient in milk (a) Copper (b) Calcium (c) Iron (d) Sodium 10. The coenzyme form of thiamine is (a) TPP (b) CoA (c) Biotin (d) FAD 11. Active form of vitamin D is.-------------------12.-------------------- is the codon of methionine IV13. Name the site of β -oxidation of fatty acids 14.-------------------- enzyme involve in the activation of amino acid during translation 15 The cluster of ribosomes associated with single mRNA is called-------------------16.-------------------- is the rate limiting enzyme in the de novo synthesis of fatty acids. V17.-------------------- is the key enzyme in urea cycle 18. .-------------------- is the trace element present in glutathione reductase 19. Deficiency of iodine causes.-------------------20.-------------------- is an example of provitamin. Section-B Short answer questions Answer any six Weightage 1 21. What is the function of carnitine 22. Explain the term pellagra 23. What are zymogens? 24. What are non-sense codons? 55 25. Explain the term ‘central dogma’ 26. Name out the fat soluble vitamins 27. What are the factors that retard iron absorption. 28. What are Okazaki fragments? Section-C Short essay Attempt any four Weightage 2 29. Describe the cholesterol synthesis 30. Explain physiological function of phospholipids 31. Give an account of genetic code 32. Explain termination of transcription in detail 33. Explain the biological roe of iodine and fluorine 34. Discuss about Wobble hypothesis. Section- D Long essay Answer any two Weightage 4 35. Explain the urea cycle and its significance. 36. Explain the fatty acid biosynthesis. 37. Explain the translation process in prokaryotes. 56 2ND COMPLEMENTARY COURSE Paper I - Industrial and Environmental Biotechnology 1.Biogas is mixture of CH4 and ----2. Presumptive test is used in ----- microbiology. 3. +ve test in presumptive is received as ----4. Completed test determines ----- of water sample. 5. ----- is used to differentiate E. coli and E. aerogenus. 6. Biosorbent – M removes ----7. Selective media for confirmed test. 8. Major indicator of polluted water. 9. E. coli is a ----- bacteria. 10. ----- is an ethanol producing bacteria. 11. Name a fungi involved in pesticide removal. 12. Name a bacteria involved in pesticide removal. 13. Organism which degrades propanil. 14. F: solani degrades ----15. Carriers used in CAST include ----16. Mutation results in ----- formation 17. Name an organism involved in Bioventing. 18. Name an organism involved in Bioscrubber. 19. Name an organism involved in Biosorption. 20. Name an organism which produce amino acid. Long Essay 21. Write on pesticide degradation by microbes 22. Improvement in strain Short answer 23. Biosorption 24. Bioventing 25. Current status of EBT 26. Biodegradation of petrochemical effluents 57 27. Options for waste water treatment 28. Bacteriological examination of water Short Essay 29. Protoplast fusion for strain improvement 30. Aerobic waste water treatment 31. Pesticide degradation 32. Sources of microorganisms 2ND COMPLEMENTARY COURSE PAPER II - ANIMAL TISSUE CULTURE AND IMMUNOLOGY OBJECTIVE 1. An example for Animal Tissue Culture media (MS, BS, DME, White’s) 2. A chemical used for somatic cell fusion (CaCl2, PEG, Sucrose, None) 3. HAT medium is used for ------ isolation (Mouse cells, Hybrid cell, Tumor cells) 4. A pentameric immunoglobin (lgG, lgM, lgE, lgA) 5. Give an example for agglutination reaction 6. Expand ELISA 7. Culture vessel used for monolayer culture [a) Airlift fermenter b) Roux bottle c) Stirred Bioreactor d) None] 8. Define epitope 9. B-cells are produced from -----10. Interleukins are produced from ------ [B-cell, T-cell, Mast cells, None] 11. Example for cryoprotectant (H2S, H2O, liq N2, None). 12. Which among is a secondary lymphoid organ (Bone marrow, thymus, Splean, Liver) 13. Enzymes used for disaggregation of explant. (Pectinase, Collagenase, Amylase, None). 14. Heat labile constituents are sterilized by ------ (Oven, Boiling, Filtration, None). 15. Animal virus vector -----(Gemini, CMC, SV40, None) 58 16. Shotgun method on which particle T.DNA is coated (Platinum, Gold, Silver, Copper) 17. Introduction of F-DNA into vector is called -----(Transformation, Transfection, Transduction, Conjugation) 18. An example for an adjuvant (Nr2Cl2, Alum, MgSO4, Gold) 19. An example for tissue engineering (Callus culture, Artificial skin) 20. Father of immunology (Louis Pasteur, Edward Jenner, Koch, None) Short answer 21. Differentiate between anchorage dependent and independent 22. What do you meant by bioforming? 23. Mino injection 24. Structure of lgE. 25. Classes of immunoglobin 26. V-region Short Essay 27. Any one transfection method? 28. Types of immunity. 29. Structure of lymph node-Explain 30. What is agglutination? Explain with one reaction Long Essay 31. Monodonal Ab production? 32. Write a short note on transgenic animals? 59 2ND COMPLEMENTARY COURSE Paper III - Plant Biotechnology I. OBJECTIVES 1. The embryos formed from unfertilized eggs are known as (a) Somatic embryos (b) parthenogenic embryos (c) Zygotic embryos (d) Androgenic embryos 2. The culture technique used for obtaining virus free plants. (a) Anther culture (b) Callus culture (c) Meristem culture (d) Pollen culture 3. Most commonly used plant tissue culture media. (a) Ms medium (b) B5 medium (c) White’s medium (d) WP media 4. Name the person who demonstrated haploid production (a) Zenketeler (b) Guha and Maheswari (c) Carlson (d) None of the above 5. Name the person who is aptly regarded as the father of plant tissue culture. (a) Gottlieb haberlandt (b) Charles Darwin (c) Skoog (d) Miller 6. The hormone used to induce rooting under in vitro conditions (a) IBA (b) BAP (c) 2, 4-D (d) None of the above 7. Most commonly used carbon source. (a) Mannitol (b) Sorbitol (c) Sucrose (d) Glucose 8. The chemical used as a fusogen (a) ABA (b) PVP (c) PEG (d) CaNO3 9. The plant tissue culture media used to culture woody plants. (a) MS medium (b) WPM (c) B5 (d) N6 10. The function of activated charcoal in plant tissue culture media (a) Chelating agent (b) Adsorbing agent (c) Precipitating agent (d) None 11. The hormone which induces callus in explants 60 (a) 2, 4-D (b) GA3 (c) Ethylene (d) None 12. The metal which is provided in the media in chelated form is (a) fe (b) cu (c) co (d) mg 13. Mg ion is mainly needed by the organelles ------ (Chloroplast) 14. The enzyme which is being used for protoplant isolation is ------ (Pectinase) 15. Adventitious bud technique is a ------ (Micropropagation technique) 16. The hormone isolated from DNA is ------ (kinetin) 17. The basic principle of plant tissue culture is -----18. The culture technique which reduces incompatibility barriers is ------ (somatic hybridization) 19. Totopotency was demonstrated by ------ (Haberlandt) 20. The variability seen among pollen derived plants is ------ (Gametoclonal variation). II. Short answer 21. Name a medium used for anther culture. 22. Define vitrification 23. The sterilization method used to sterilize heat labile hormones. 24. Expand FDA 25. Define protoplast 26. Mention the use of embryo culture. III. Short Essay 27. Explant selection 28. Somaclonal variation 29. Composition of MS media 30. Growth regulators used in tissue culture media IV. Long Essay 31. Explain the different types of cultures and their applications. 32. Short note on somatic hybridization and its applications. 61 GENETICS – as a Complimentary for other B.Sc. Courses 62 Paper I : Basic Genetics (Semester I) Unit - 1: Introduction to Genetics (3 hrs) Introduction, scope and significance of genetics Unit - 2: Principles of Genetic Transmission (10 hrs) Mendel’s Experiment, Symbols and Terminology, Mendel’s law, Mendelian Inheritance Unit - 3: Extension of Mendelism Incomplete dominance, (10 hrs) co-dominance, multiple alleles, Gene interaction, Penetrance and expressivity, epistasis and phiotropy. Unit - 4: Quantitative Genetics (3 hrs) Continuous Variation, Quantitative Traits, Heritability. Unit - 5: Chromosome basis of Mendelism (10 hrs) Chromosome-chromosome number, sex chromosome, chromosome theory of heredity. Sex linked gene in humans - haemophilia, colour blindness. Sex chromosome, sex determination, dosage compensation. References: Genetics – Principle and Analysis – Hartl and Jones. Genetics – Peter J. Russell. Principles of Genetics – Snustad and Simmons. Genetics – A continuity of life – Daniel J. Fairbanks, Ralph. Practicals: I 1) Genetic Problem – Interaction, Multiple Allele. 2) Study of Model Organism- Morphological features of Drosophila, Arabidopsis and C. elegans. 3) Study of mutants in Drosophila. 4) Staining Technique – Mitochondrial staining, Blood smear. 63 Paper II : Cytogenetics (Semester II) Unit- 1: Chromosomal Variation (5 hrs) Morphology of chromosome Structural and Numerical Unit- 2: Linkage, Crossing Over and Chromosome (10 hrs) Linkage, recombination, crossing over Chromosome mapping Tetrad analysis Unit- 3: Extra Nuclear Inheritance (5 hrs) Maternal inheritance Mitochondrial inheritance – Snail, Poky, Petite Chloroplast inheritance- leaf variegation in Mirabilis, Iojap. Unit- 4: Sexuality and Recombination in Bacteria and Virus (10 hrs) Three methods of transfer of genetic material Transformation, Transduction and Conjugation. Sexual conjugation in bacteria F+, F-, Hfr strains and F’ strain Replication and Recombination in Virus Lysogenic and Lytic cycle. Unit- 5: Molecular Mechanisms of Recombination Hybrid DNA models involving single strand breaks. Hybrid DNA models involving double strand break. Mismatch Repair & post meiotic segregation. Enzymes and proteins involved in recombination References: Principles of Genetics – Snustad, Simmons, Jenkins. Concepts of Genetics – Klug and Cummings. Genetics – Peter J. Russell. Practical: 1) Dissection of Salivary Gland 2) Preparation of Polytene Chromosome 3) Mitosis and Meiosis 64 (6 hrs) Paper III : Evolutionary and Population Genetics (Semester III) Unit- 1: History of Evolution (5 hrs) Unit- 2: Population Genetics and Evolution (10 hrs) Population and Gene Pool Allelic Frequency Hardy-Weinberg Law Changes in structure of population (Mutation, genetic drift causes and its effects, migration, natural selection ) Unit- 3: Isolating Mechanisms (5 hrs) Types of Isolating Unit- 4: Genetic and Speciation (10 hrs) Genetic variation in natural population Phenotypic variation Species concept Modes of speciation (Allopatric, Sympatric, Parapatric and Quantum Speciation) Unit- 5: Mutation and Migration (6 hrs) Irreversible mutation Reversible mutation References: Principles of Genetics – Snustad, Simmons, Jenkins. Concepts of Genetics – Klug and Cummings. Genetics – Peter J. Russell. Evolution – Strickberger. Practical: 1) Genetic Drift and Natural Selection. 2) Field Study of Gene and Genotypes, Frequency of autosomal inheritance. 65 Paper IV : Human Genetics (Semester IV) Unit- 1: Introduction to Human genetics (2 hrs) Unit- 2: Human Chromosomes (2 hrs) Human karyotype Paris Nomenclature Unit- 3: Mendelian Traits (2 hrs) Straight Hair, Curly Hair, Widow’s peak, Dimpled cheeks, Mid digital hair, Hitchhicker’s thumb, Clasping of hands, Hypertrichosis. Unit- 4: Pedigree Studies (4 hrs) Symbols used in pedigree analysis Pedigree analysis of important genetic diseases like Haemophila, Colour blindness, DMD. Unit- 5: Genetic Diseases and Inheritance Pattern (15 hrs) Autosomal Inheritance ,Dominant- Adult polycystic kidney, Neurofibromatosis. Autosomal Recessive- Albinism, Sickle Cell Anaemia. X-linked Recessive-DMD. X-linked Dominant – Rett Syndrome. Y-linked – Holandric. Multifactorial – Cleft lip and Palate, Rheumatoid arthritis. Unit- 6: Parental Diagnosis (6 hrs) Definition ,Various procedures used such as Amniocentesis, Chorionic Villus sampling, Ultrasonography and Fetoscopy. Unit- 7: Genetics and Society (5 hrs) Human genome project ,Forensic science ,Eugenics and euthenics References: Emery’s Element of Medical Genetics – Ian. D. Young, Robert F. Mulleur. Thompson and Thompson – Medical Genetics. Practicals: 1) Pedigree analysis 2) Human Keryotypic using photographs (cut and paste) 3) Medelian Traits 4) Barr Body Analysis 66