Faculty of Life Sciences

FACULTY OF LIFE SCIENCES

SYLLABUS

FOR

M.Sc. (Hons.) HUMAN GENETICS (Under Credit Based Continuous Evaluation Grading System)

(Semester: I to IV)

Examinations: 2014-15

GURU NANAK DEV UNIVERSITY AMRITSAR

Note: (i) Copy rights are reserved. Nobody is allowed to print it in any form. Defaulters will be prosecuted.

(ii) Subject to change in the syllabi at any time. Please visit the University website time to time. 1 M.Sc. (Honours) Human Genetics (Semester System) (Credit Based Continuous Evaluation Grading System)

Eligibility: i) M.Sc. (Honours) Human Genetics a) Bachelor of Science in any science subject with at least 50% marks in aggregate. b) Any other examination recognized equivalent thereto as at (a). c) M.B.B.S. or B.D.S. only.

SCHEME OF COURSES Semester-I Course C/E/I Course Title L T P Total No. Credits Core Courses (27 Credits)

HGL-401 C Molecular Genetics 3 0 0 3

HGL-402 C Principles of Human Genetics 3 0 0 3

HGL-403 C Human Growth and Development 3 0 0 3

HGL-404 C Human Anatomy and Physiology-I 3 0 0 3

HGL-405 C Computer Applications 3 0 0 3

HGL-406 C DNA Technology 3 0 0 3

MTL-261 C Biostatistics 3 1 0 4

HGP-402 C Principles of Human Genetics and 0 0 2 2 Molecular Genetics Practical HGP-403 C Human Growth and Development 0 0 1.5 1.5 Practical HGP-404 C Human Anatomy Practical 0 0 1.5 1.5

Total Credits 21 1 5 27

Interdisciplinary/Optional Course (3 Credits) — For other departments

HGL-051 I Human Genetics in Health and Disease 3 0 0 3

1. Interdisciplinary course “HGL-051 Human Genetics in Health and Disease” is offered for the students of any other department of Guru Nanak Dev University Campus, Amritsar. 2 M.Sc. (Honours) Human Genetics (Semester System) (Credit Based Continuous Evaluation Grading System)

SCHEME OF COURSES Semester-II Course C/E/I Course Title L T P Total No. Credits Core Courses (20 Credits) HGL-452 C Human Cytogenetics 3 0 0 3 HGL-453 C Human Physique and Body 3 0 0 3 HGL-454 C HumanComposition Anatomy and Physiology-II 3 0 0 3 HGL-456 C Human Population Genetics and 3 0 0 3 HGL-457 C HumanVariation Biochemical Genetics and 3 0 0 3 Immunogenetics HGP-452 C Lab Exercises in Human Cytogenetics 0 0 2 2 HGP-453 C Human Physique and Body 0 0 1.5 1.5 Composition Practical HGP-454 C Human Physiology Practical 0 0 1.5 1.5 Elective Course (3 Credits) HGL-461 E Human Evolution 3 0 0 3 HGL-462 E Lab Design and Biosafety Guidelines 3 0 0 3 Interdisciplinary/Optional Course (3 or 4 Credits) I To be taken from outside the department 3 0 0 3 Total Credits 21 0 5 26

Interdisciplinary/Optional Course (3 Credits) — For other departments HGL-052 I Introductory Human Genetics 3 0 0 3

1. The students are required to opt for one ‘Elective’ paper. 2. The students are also required to take one paper (Interdisciplinary/Optional) of 3 or 4 credits of their choice from any other department of Guru Nanak Dev University Campus, Amritsar 3. Interdisciplinary course “HGL-052 Introductory Human Genetics” is offered for the students of other departments.

3 M.Sc. (Honours) Human Genetics (Semester System) (Credit Based Continuous Evaluation Grading System)

SCHEME OF COURSES Semester-III Course C/E/I Course Title L T P Total No. Credits Core Courses (16 Credits) HGL-501 C Quantitative Genetics 3 0 0 3 HGL-502 C Functional Genomics 3 0 0 3 HGL-504 C Research Design and Methodology 2 1 0 3 HGL-505 C Human Embryology and Developmental 3 0 0 3 Genetics HGS-506 C Seminar 1 0 0 1 HGP-502 C Functional Genomics Practical 0 0 3 3 Elective Course (3 Credits) HGL-511 E Immunogenetics in Health and Disease 3 0 0 3 HGL-512 E Essentials of Medical Genetics 3 0 0 3 Interdisciplinary/Optional Course (3 or 4 Credits) — – I To be taken from outside the department 3 0 0 3 Total Credits 18 1 3 22

4 M.Sc. (Honours) Human Genetics (Semester System) (Credit Based Continuous Evaluation Grading System)

SCHEME OF COURSES Semester-IV Course C/E/I Course Title L T P Total No. Credits Core Courses (18 Credits) HGL-551 C Perspectives of Human genome and Bioethics 3 0 0 3 HGL-552 C Applied Human Molecular Genetics 3 0 0 3 HGL-556 C Medical and Clinical Genetics 3 1 0 4 HGL-554 C Structural Biology and Pharmacogenomics 3 0 0 3 HGP-552 C Human Molecular Genetics Practical 0 0 3 3 HGP-553 C Medical and Clinical Genetics Practical 0 0 2 2 HGD-591 – Dissertation* (To be graded as satisfactory/ 0 0 0 0 unsatisfactory) Elective Course (3 Credits) HGL-411 E Regulatory Approaches in Human Genetics 3 0 0 3 HGL-412 E Biological Demography 3 0 0 3 Interdisciplinary/Optional Course (3 or 4 Credits) — – I To be taken from outside the department 3 0 0 3 Total Credits 18 1 5 24

*Topic of dissertation and name of supervisor to be finalized during Semester-II.

5 M.Sc. (Honours) Human Genetics (Semester-I) (Credit Based Continuous Evaluation Grading System)

HGL-401 MOLECULAR GENETICS Credits: 3-0-0

Unit-I

Structure of nucleic acids, Factors affecting DNA stability, Mechanisms of replication in prokaryotes and eukaryotes, DNA binding proteins, DNA markers: Tandem repeat polymorphisms, Single nucleotide polymorphisms (SNPs), Random amplified polymorphic DNA (RAPD) markers and their applications, DNA damage, DNA repair mechanisms.

Unit-II Different types of RNA polymerases and their role, Transcription, Promoters, enhancers and regulators of transcription, Post-transcriptional processing of primary transcript, RNA splicing, Alternative splicing, 5'-Capping 3'-Polyadenylation, RNA editing, Transport and targeting of RNA, Post-transcriptional gene silencing.

Unit-III Genetic code: Nuclear and mitochondrial, Prokaryotic and eukaryotic ribosomes, Mechanism of translation, Post-translation modifications, Inhibitors of protein synthesis, Gene expression regulation-operon and regulon, positive and negative regulation, Attenuation and antiterminations, Analysis of human gene structure, expression and function using cultured cells. Books Recommended: 1. Alberts, B., Bray, D., Lewis, J., Raff, M., Roberts, K. and Watson, J.D. (2008). Molecular Biology of the Cell. Garland Press, USA, 5th Ed. 2. Brown, T.A. (2005). Genetics: A Molecular Approach. Bios Scientific Publishers Ltd., Oxford, 3rd Ed. 6 M.Sc. (Honours) Human Genetics (Semester–I) (Credit Based Continuous Evaluation Grading System)

3. Brown, T.A. (2006). Genomes 3. Bios Scientific Publishers Ltd., Oxford, 3rd Ed. 4. Brown, T.A. (2010). Gene Cloning and DNA Analysis: An Introduction. Blackwell Publishing Co., Oxford, 6th Ed. 5. Hartl, D.L. and Jones, E.W. (2005). Genetics: Analysis of Genes and Genomes. Jones and Bartlett Publishers, Inc., USA, 6th Ed. 6. Lewin, B. (2011). Genes-X. Jones and Barlett Publishers, Inc., USA. 10th Eds. 7. Lodish, H., Baltimore, D., Berk, A., Zipursky, S.L., Matsudaira, P. and Daniell, J. (2004). Molecular Cell Biology. W. H. Freeman and Co., San Fransisco. 5th Eds. 8. Strachan, T. and Read, A. (2010). Human Molecular Genetics. Garland Publishers, London. 4th Ed.

7 M.Sc. (Honours) Human Genetics (Semester–I) (Credit Based Continuous Evaluation Grading System)

HGL-402 PRINCIPLES OF HUMAN GENETICS Credits: 3-0-0

Unit-I Overview of historical milestones in human genetics, Fields of human genetics, Molecular organization of nuclear and mitochondrial genome, Transposable elements in Human Genome, Genetic maps, Physical maps.

Unit-II Modes of inheritance in humans, Mendelian and non-Mendelian inheritance in humans, Multifactorial inheritance and quantitative traits, Threshold model and recurrence risks. Dosage compensation and X-inactivation, Sex-linked, Sex-limited and Sex-influenced traits, true- and psuedohermaphrodites, Mosaics and chimeras.

Unit-III Various types of mutations, Role of radiations and chemicals in inducing mutations, Effects of mutations, Mutation rates in humans, Pleiotropy. Cytogenetic basis of variation in chromosome number and structure, Marker chromosomes. Chromosomal basis of neoplasia, Role of proto-oncogenes, oncogenes and tumor-suppressor genes in cancer, Chromosomal instability syndromes - Ataxia telangectasia, Fanconi anemia, Bloom's syndrome, Nijmegen breakage syndrome. Genetic toxicology assays.

Books Recommended: 1. Cummings, M.R. (2003).Human Heredity: Principles and Issues. Thompson, Brooks/Cole, 6th Ed. 2. Cummings, M.R. (2009). Human Genetics. Cenage Learning, USA. 3. Farzaneh, F. and Cooper, D.N (Eds.) (1995). Functional Analysis of the Human Genome. Bios Scientific Publishers Ltd., Oxford.

8 M.Sc. (Honours) Human Genetics (Semester–I) (Credit Based Continuous Evaluation Grading System)

4. Gardner, E.J. (2008). Human Genetics. Viva Books Pvt. Ltd., India. 5. Hancock, J.H. (2008). Molecular Genetics. Viva Books Pvt. Ltd., India. 6. Harper, P.S. (2006). First Year of Human Chromosomes. Scion, USA. 7. Korf, B.R. (2006). Human Genetics and Genomics. Blackwell Publishing Co., Oxford. 8. Sambamurty, A.V.S.S. (2006). Genetics. Narosa Publishing House, New Delhi. 9. Strachan, T. and Read, A. (2004). Human Molecular Genetics. Bios Scientific Publishers, Oxford. 10. Sumner, A.T. (2003). Chromosomes: Organization and Function. Blackwell Publishing Co., Oxford. 11. Tamarin, R.H. (2002). Principles of Genetics. Tata McGraw Hill, USA, 7th Ed. 12. Therman, E. and Miller, O.J. (2001). Human Chromosomes. Springer-Verlag, New York, 4th Ed.

9 M.Sc. (Honours) Human Genetics (Semester–I) (Credit Based Continuous Evaluation Grading System)

HGL-403 HUMAN GROWTH AND DEVELOPMENT Credits: 3-0-0 Unit-I Definitions of growth and development, Periods of growth, Laws of growth, Methods of studying growth with merits and demerits, Assessment of normal growth, Abnormal growth, Growth patterns in various genetic disorders, Growth curves. Unit-II Somatic growth during prenatal life, Assessment of prenatal age, Ultrasound measurements of prenatal growth, Embryonic development of teeth, Fetal growth retardation. Unit-III Growth from birth to puberty, Mid-childhood growth spurt, Normal pubertal growth, Precocious puberty, Delayed puberty, Sexual maturation, menarche, menopause and fertility, Anatomical changes due to ageing, Normal developmental milestones, Cognitive development, Language development. Secular trends, Growth standards, Catch-up growth, Factors affecting growth.

Books Recommended:

1. Cummings, M.R. (2009). Human Genetics. Cengage Learning India Pvt. Ltd. New Delhi.

2. Ghai, O.P., Paul, VK. Arvind Bagga. (2010). Essential Pediatrics. CBS Publishers and Distributors, New Delhi 3. Harrison, G.A. Weiner, J.S. Tanner, J.M. and Barnicot, N.A. (1990). Human Biology. Oxford University Press. 4. Ulizaszek, S.J., Johnston, F.E. and Preece. M.A. (1998) The Cambridge Encyclopedia of Human Growth and Development. Cambridge University Press.

10 M.Sc. (Honours) Human Genetics (Semester–I) (Credit Based Continuous Evaluation Grading System)

HGL-404 HUMAN ANATOMY AND PHYSIOLOGY-I Credits: 3-0-0 Unit-I Introduction to anatomical terms, Classification of bones, Histology of bones, Ossification, Growth, Role of bone in calcium homeostasis, Fracture and repair of bones, Structure and classification of joints, Classification of muscles, Structure of smooth, cardiac, skeletal muscle, neuromuscular junction, Physiology of muscle contraction Unit-II Brief description of constituent parts of digestive system, Physiology of digestion, absorption and taste, Blood composition and hemopoiesis, Functions of blood, Blood clotting, Blood pressure, Brief description of lymphatic system, Structure of heart, Cardiac cycle, Systemic and pulmonary circulation, Structure and types of blood vessels, Brief description of arterial and venous systems, .Unit-III Brief anatomical description of respiratory system, Physiology of respiration, Role of hemoglobin in respiration, Regulation of respiration, structure and physiology of olfactory receptor Books Recommended: 1. Drake, R., Vogl, W. and Mitchell, A. (2010). Gray's Anatomy for Students. Churchill Livingstone, USA. 2. Guyton, A.C. and Hall, J.E. (2011). Textbook of Medical Physiology. Elsevier Publications, New York. 3. Marieb, E.N. and Hoehen, N. K. (2012). Human Anatomy and Physiology. Benjamin Cummings;., 9th ed 4. Standring, S. (2008). Gray's Anatomy. Churchill Livingstone, USA. 40th ed. 5. Tortora, G.J. and Grabowski, S.R. (2002). Principles of Anatomy and Physiology. Harper Collins College Publishers. 6. Tortora, G.J. and Henderson, S.R. (2012). Principles of Anatomy and Physiology. Harper Collins College Publishers.

11 M.Sc. (Honours) Human Genetics (Semester–I) (Credit Based Continuous Evaluation Grading System)

HGL-405 COMPUTER APPLICATIONS Credits: 3-0-0 Unit–I Computer fundamentals, Internet basics and MS-Office 2003, Introduction to digital computers, Organization, Number system, I/O devices, Storage devices, Introduction to internet and its applications – www, email, ftp. MS-Windows basics, MS-Word – Meaning of Word–Processing, Creating, Saving, Printing documents, Formatting, Spell-Check, Adding page numbers, Header and Footer, Macros, Creating tables, Converting table to text and vice–versa, Mail Merge. MS-Excel – Spreadsheets, Using different types of formulae, Creating graphs and charts, Exporting charts to MS-Word, MS-PowerPoint – Creating presentations, Formatting, Adding effects and timings.

Unit–II Data analysis and database – Brief description and tabulation of data, Measure of central tendency and dispersion – Mean, Median, Mode, Range, Standard Deviation, Variance and Correlation coefficient using SPSS. Types of errors and level of significance, Tests of significance (F and t-test), Chi-square tests, Introduction to Data, Information, Database, DBMS (Advantages and disadvantages), Introduction to SQL (Data retrieval).

Unit–III Virtual library and some useful sites on Internet – Searching MEDLINE on the Pubmed system from National Centre for Biotechnology and Information. Assessing full text journals on the internet and printing articles using EndNote.

Books Recommended: 1. Sinha, P.K. (1992). Computer Fundamentals. 2. Peter Norton's Introduction to Computers, 6th Ed. 3. Windows Based Computer Courses, Sumit Kumar, JBD Publishers. 4. Gupta, S.C. (2004). Fundamentals of Statistics. Himalaya Publishing House.

Website Links Databases (Genes Bank), search tools and software at http://www.ncbi.nlm.nih.gov. Restriction enzyme site digestion webcutter2.0 at http://www.firsmarket.com/cutter/cut2.html. PCR and multiplex PCR guide and troubleshooting at http://www.med.yale.edu/genetics/ward/tavi/Trblesht.html Image analysis program at http//www.scioncorp.com.

12 M.Sc. (Honours) Human Genetics (Semester–I) (Credit Based Continuous Evaluation Grading System)

HGL-406 DNA TECHNOLOGY Credits: 3-0-0 Unit-I Nucleic acids probes, Methods of labelling probes, Polymerase chain reaction (PCR) and applications, Principles and applications of Southern blotting, Northern blotting, Western blotting, Dot blotting, DNA Foot printing, Two-dimensional gel electrophoresis (2DE) and Pulse-field gel electrophoresis. Unit-II An overview of recombinant DNA (rDNA) technology, Cloning vectors; Plasmids, Cosmids, Phagemids, Enzymes used in DNA technology — Restriction endonucleases, Ligases, Kinases and phosphatases, Linkers and adaptors, Construction of cDNA and genomic DNA libraries, Identification of specific cloned sequences, Applications of recombinant DNA technology, Safety issue in rDNA experiments. Unit-III Principles and applications of amplification refractory mutation system (ARMS), Single-strand conformational polymorphism (SSCP), Simple sequence length polymorphism (SSLP), Restriction fragment length polymorphism (RFLP), Denaturing high-pressure liquid chromatography (dHPLC), Denaturing gradient gel electrophoresis (DGGE), DNA sequencing, High throughput sequencing techniques, Serial analysis of gene expression (SAGE).

Books Recommended: 1. Brown, T.A. (2010). Gene Cloning and DNA Analysis: An Introduction. Blackwell Publishing Co., Oxford, 6th ed. 2. Dieffenbach, C.W. and Dveksler, G.S. (2003). PCR Primer: A Laboratory Manual, Cold Spring Harbor Press, 2nd ed. 3. Freifelder, D.C. (2008). Molecular Biology. Narosa Publishing House, New Delhi, 2nd ed. 4. Hartl, D.L. and Jones, E.W. (2011). Genetics: Analysis of Genes and Genomes. Jones and Barlett Publishers, USA, 7th ed. 5. Lewin, B. (2011). Genes-X. Jones and Barlett Publishers, Inc., USA. 6. Pierce, B.A. (2012) Genetics: A Conceptual Approach. W.H. Freeman and Company, New York, 4th ed. 7. Sambrook, J., Fritsch, E.F. and Maniatis, T. (2001). Molecular Cloning: A Laboratory Manual. Cold Spring Harbor, New York, Vol. 1, 2&3. 8. Strachan, T. and Read, A. (2011). Human Molecular Genetics. Garland Publishers, London. 4th ed.

13 M.Sc. (Honours) Human Genetics (Semester–I) (Credit Based Continuous Evaluation Grading System)

MTL-261 BIOSTATISTICS Credits: 3-1-0 Note:- The scope of this paper is restricted only to the applications of various statistical techniques. The mathematical derivations of various results are excluded.

Statistical Methods — Collection of data, Frequency distribution and its graphical representation, Measures of Central Tendency, Dispersion, Skewness and Kurtosis moments.

Correlation and Regression — Relationship between variables, Covariance, Karl-Pearson's Correlation Coefficient, Spearman's rank Correlation Coefficient, Least square technique for regression lines (without proof), Regression Coefficients, Relationship between Correlation analysis and Regression Analysis.

Probability — Mathematical definition of probability of an event, Use of permutations and combinations in calculations of Probability, Conditional probability, Additive and Multiplication law of Probability, Random Variables and its pmf, pdf, cdf, Mathematical expectation and variances, Theoretical Distributions: Binomial, Poisson and normal, Properties of these distributions (applications only).

Hypothesis Testing — Sample, Population, Statistics and Parameters, Null Hypothesis, Level of significance, Definitions of Chi–square, ‘t’ and ‘F’ variates and their pdfs only, Applications of these distributions in testing of hypothesis.

Analysis of Variance — Meaning of analysis variance with linear models, Analysis of variance for one-way classified data, Analysis of variance for two-way classified data with one observation for cell, analysis of variance for two-way classified data with multiple but equal number of observations per cell (data analysis only).

Text Books: 1. Fowler, J., Cohen, L. and Jarvis, P. (1998). Practical Statistics for Field Biology. John Wiley and Sons, 2nd ed. [Chapters: 4,5,6,7,(7.1–7.6), 9 (9.1–9.4), 12 (12.1–12.7), 13 (13.1–13.4, 13.6,13.7), 14 (14.1–14.5, 14.7), 15 (15.3–15.8, 15.10–15.11), 16 (16.9–16.13), 17 (17–.1– 17.3, 17.5,17.6,17.8)]. 2. Raghavarao, D. (1983). Statistical Techniques in Agricultural and Biological Research Oxford and IBH Publishing Co. [Chapters: 2,3,4,5,7,8,9 and 10].

14 M.Sc. (Honours) Human Genetics (Semester–I) (Credit Based Continuous Evaluation Grading System)

Reference Books:

1. Bland, M. (2006). An Introduction to Medical Statistics. Oxford University Press, 3rd ed. 2. Finney, D.J. (1980). Statistics for Biologists. Chapman and Hall Ltd. 3. Hoel, P.G. (1971). Elementary Statisitics. John Wiley and Sons, 3rd ed. 4. Ross, S.M. (2005). Introductory Statistics. Academic Press, 2nd ed. 5. Wayne, W, Daniel (1999). Biostatistics: A Foundation for Analysis in Health Sciences. John Wiley and Sons, 7th ed. 6. Woodworth, G. (2004). Biostatistics: A Bayesian Introduction. John Wiley and Sons.

15 M.Sc. (Honours) Human Genetics (Semester–I) (Credit Based Continuous Evaluation Grading System)

HGP-402 PRINCIPLES OF HUMAN GENETICS AND MOLECULAR GENETICS PRACTICAL

Credits: 0-0-2

Numericals on Mendelian and non-Mendelian inheritance in humans, To study pedigree patterns, Numericals on pedigree analysis — Autosomal patterns, X-linked patterns, Y-linked patterns, Mitochondrial inheritance patterns, To study morphogenetic traits with regard to their gene frequencies, variation patterns, Prepare genetic individuality charts for morphogenetic traits, To test PTC tasting ability in a random sample and calculate gene frequencies for the taster and non- taster alleles, Frequency of Barr body in buccal smear, Drumsticks in blood smear as means of sex determination, To study fingerball and palmar dermatoglyphics and calculate indices, To test for colour blindness using Ishihara charts. Sterilization of glassware and plasticware, Preparation of stock solutions, Preparation of working solutions from stock solutions, Extraction of DNA from human buccal cells by inorganic method, Quality checking of DNA by agarose gel electrophoresis, Quantification of DNA, Amplification of genomic DNA by PCR

16 M.Sc. (Honours) Human Genetics (Semester–I) (Credit Based Continuous Evaluation Grading System)

HGP-403 HUMAN GROWTH AND DEVELOPMENT PRACTICAL

Credits: 0-0-1.5

Growth curves, Direction of growth curve, Assessment of growth status and growth rate, Definition and location of various landmarks on body, Technique of various anthropometric measurements.

17 M.Sc. (Honours) Human Genetics (Semester–I) (Credit Based Continuous Evaluation Grading System)

HGP-404 HUMAN ANATOMY PRACTICAL

Credits: 0-0-1.5

Classification of bones, Skull — Different views, Vertebrae, Sternum, Scapula, Bones of upper and lower limbs, Innominate, Clavicle, Sexual dimorphism — Skull, Innominate, Sacrum, Attachment of muscles at shoulders, elbow, hip and knee joints.

18 M.Sc. (Honours) Human Genetics (Semester-II) (Credit Based Continuous Evaluation Grading System)

HGL-452 HUMAN CYTOGENETICS Credits: 3-0-0 Unit-I General features of human chromosomes, Chromatin structure, Constitutive and facultative heterochromatin, Nucleosome, Solenoid model, Centromeres, Kinetochores, Telomeres, Nuclear organization region (NOR), Human artificial chromosomes.

Unit-II Human mitosis and meiosis, Mitotic cell-cycle, Cell-cycle progression and check points, Chromosome dynamics in M-phase and its regulation, Role of condensins, Cohesins, Microscopy — Introduction to light, fluorescent and confocal microscopy.

Unit-III Animal cell culture techniques — Primary culture, Secondary culture, Serum-free cultures, Cell-lines, Chromosome banding techniques — G,C,R,Q,T,NOR, Kinetochore, High-resolution banding, Molecular correlates of chromosome bands, Fragile sites, Sister chromatid exchanges, FISH, CGH mapping technique, Chromosome nomenclature and cytogenetic notation for G-banded chromosomes.

Books Recommended: 1. Cummings, M.R. (2009). Human Genetics. Cenage Learning, USA. 2. Czepulkowski, B. (2004). Analysing Chromosomes. Bios Scientific Publishers Ltd., Oxford, 3. Farzaneh, F. and Cooper, D.N (Eds.) (1995). Functional Analysis of the Human Genome. Bios Scientific Publishers Ltd., Oxford. 4. Freshney, R.I. (2010). Animal Cell Culture: A Practical Approach. IRL Press, Oxford, 2nd Ed. 5. Gardner, E.J. (2012). Human Genetics. Viva Books Pvt. Ltd., India. 6. Gersen, S.L. and Keagle, M.B. (2005). The Principles of Clinical Cytogenetics. Humana Press, USA, 2nd Ed. 7. Hancock, J.H. (2008). Molecular Genetics. Viva Books Pvt. Ltd., India. 19 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

8. Harper, P.S. (2006). First Years of Human Chromosomes. Scion, USA. 9. Korf, B.R. (2006). Human Genetics and Genomics. Blackwell Publishing Co., Oxford. 10. Rooney, D.E. and Czepulkowski, B.H. (1986). Human Cytogenetics: A Practical Approach. IRL Press Ltd., Oxford. 11. Roif-Dieter (1994). Diagnostic Cytogenetics. Springer-Verlag, New York. 12. Schaffer, L.G., Stovak, M.L. and Campbell, L.J. (2009). ISCN-2009. Karger Publishers, Germany. 13. Strachan, T. and Read, A. (2011). Human Molecular Genetics. Bios Scientific Publishers, Oxford. (Fourth Eds) 14. Sumner, A.T. (2003). Chromosomes: Organization and Function. Blackwell Publishing Co., Oxford. 15. Tamarin, R.H. (2012). Principles of Genetics. Tata McGraw Hill, USA, 7th Ed. 16. Therman, E. and Miller, O.J. (2001). Human Chromosomes. Springer-Verlag, New York, 4th Ed.

20 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

HGL-453 HUMAN PHYSIQUE AND BODY COMPOSITION

Credits: 3-0-0

Unit-I

Definitions of physique and body composition, Dysplasia, Gynandromorphy, Lean body mass or Fat-free mass, Storage fat, Essential fat, Adipose tissue, Useful application of the study of physique and body composition, Physique and its relation to various diseases, Sex differences in physique.

Unit-II

Classification of physique by external body forms i.e. Viola's method, Kretschmer's method, Sheldon's method, Hooton's somatotype method, Cureton's somatotype method, Parnell's method, Damon's anthropometric method, Heath-Carter Somatotype method, Somatochart.

Unit-III

Technique for estimation of body composition, Densitometry, Hydrometry, Roentgenogrammetry, Surface anthropometry, Bioelectrical impedance method, Magnetic resonance imaging, Body composition changes during prenatal period, childhood, adolescence, adulthood and chronic energy deficiency, Physiological effects of excess fat, Biological measure of maturity i.e. Skeletal age, Dental age, Secondary sex characters, Shape, age and their relationship to each other.

21 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

Books Recommended: 1. Forbes, C.B. (1987). Human Body Composition. Springer-Verlag, New York, Berlin. 2. Gibney, M.J., Macdonald, I.A. and Rocho, H.M. (2004). Nutrition and Metabolism. Blackwell Publishing Co., Oxford. 3. Harrison, G.A., Weiner, J.S., Tanner, J.M. and Barnicot, N.A. (1990). Human Biology. Oxford University Press. 4. Mcardle, W.D., Katch, F.I. and Katch, V.L. (2001). Exercise Physiology. Williams and Wilkins, Lippincott. 5. Singh, S.P. and Mehta, P. (2009). Human Body Measurements: Concepts and Applications. PHI Learning Pvt. Ltd., New Delhi. 6. Ulizaszek, S.J., Johnston, F.E. and Preece, M.A. (1998). The Cambridge Encyclopedia of Human Growth and Development. Cambridge University Press.

22 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

HGL-454 HUMAN ANATOMY AND PHYSIOLOGY-II Credits: 3-0-0 Unit-I Brief anatomical description of excretory system, Physiology of excretion and urine formation, Regulation of body fluid by kidneys, Male and female reproductive systems, Physiology and hormonal control of reproduction.

Unit-II Gross anatomy of brain and spinal cord, Ascending and descending tracts in spinal cord, Action potential, Transmission at synapse, Neurotransmitters, Sensory, Motor and integrative functions of brain, Limbic system, Types of reflex actions

Unit-III Brief description of structure and function of autonomic nervous system, Anatomy and physiology of Eye, Ear, Skin and Touch receptors, Structure and functions of endocrine glands.

Books Recommended:

1. Drake, R., Vogl, W. and Mitchell, A. (2010). Gray's Anatomy for Students. Churchill Livingstone, USA. 2. Guyton, A.C. and Hall, J.E. (2011). Textbook of Medical Physiology. Elsevier Publications, New York. 3. Marieb, E.N. and Hoehen, N. K. (2012). Human Anatomy and Physiology. Benjamin Cummings;., 9th Ed 4. Standring, S. (2008). Gray's Anatomy. Churchill Livingstone, USA. 40th Ed. 5. Tortora, G.J. and Henderson, S.R. (2012). Principles of Anatomy and Physiology. Harper Collins College Publishers.

23 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

HGL-456 HUMAN POPULATION GENETICS AND VARIATION Credits: 3-0-0 Unit-I Historical emergence, Application and subdivisions of human population genetics, Dynamics and conditions of the Hardy-Weinberg law and its application for autosomal locus with two alleles and multiple alleles, Computation of testing of Hardy-Weinberg proportion. Unit-II Kinetics of changes of gene frequencies, Non-recurrent and recurrent mutation, Mutation pressure and estimation of rates, Genetic load and mutational currency, Basic selection model with recessive lethal and recessive, general dominance and heterozygotes, Selection coefficient and fitness, Heterozygous advantages, Equilibrium between mutation and selection, Dynamics of migration and the effects of genetic drifts. Unit-III Consanguinity and inbreeding, Inbreeding coefficient of a population and individuals through path analysis, Computation of Wright's F-statistics, Biological consequences of inbreeding, Concept of genetic load and its measurements, Concept of human races through UNESCO guidelines, Race and culture, Admixture of races, Ethnic elements in Indian population (classification by A.C. Haddon, H.H. Risley, S.S. Sarkar and Guha), Physical characteristics among different ethnic populations. Books Recommended 1. Balding, D.J., Bishop, M. and Cannings, C.C. (Eds.) (2007). Handbook of Statistical Genetics. John Wiley and Sons, England, Vol. 1&2, 3rd ed. 2. Brandon, R.N. (1996). Concepts and Methods in Evolutionary Biology. Cambridge University Press, USA. 3. Cavalli-Sforza, L.L. and Bodmer, W.F. (1971). The Genetics of Human Population. W.H. Freeman and Co., San Francisco, CA. 4. Falconer, F.S. and MacKay, T.F.C. (1996). Introduction to Quantitative Genetics. ELBS/Longman, England, 4th ed. 5. Hamilton, M.B. (2009). Population Genetics. Wiley-Blackwell, USA. 6. Hartl, D.L. and Clark, A.G. (2007). Principles of Population Genetics. Sinaur Associates, Inc., Massachusetts, 4th ed. 7. Hedrick, P.W. (2011). Genetics of Population. Jones and Bartlett Publishers, Massachusetts, 4th ed.

24 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

HGL-457 HUMAN BIOCHEMICAL GENETICS AND IMMUNOGENETICS

Credits: 3-0-0

Unit-I

Molecular structure, biosynthesis and genetics of the ABH antigens, Quantitative and qualitative variation of enzymes, Haemoglobin variants, Alkaptonuria, Phenylketonuria, Tay-Sachs disease, Galactossemia, Familial hypercholesterolemia, Cystinuria, pseudocholinesterase deficiency, Effects of unequal crossing-over, deletions and duplications on protein structure.

Unit-II

Introduction to immune system — Principles of innate and adaptive immunity, Cells of immune system, Humoral and cell-mediated immune responses, Complement system, Inflammation, Overview of antigen and antibody structure, Multigene organization of Ig genes, V-J rearrangements in light chain DNA, V-D-J rearrangement in heavy chain DNA, Enzymatic joining of gene segments and role of RAG-1 and RAG-2 genes.

Unit-III

Molecular organization of MHC, Concept of MHC haplotypes, Organization of class-I and class-II molecules; class-I MHC-peptide interaction, Class-II MHCpeptide interaction, Polymorphism of class-I and class-II molecules; Class-III molecules, MHC in infectious diseases.

Books Recommended:

1. Abbas, A.K., Lichtman, A.H. and Pillai, S. (2010). Cellular and Molecular Immunology. WB Saunders Co., USA. 2. Delves, P.J., Martin, S.J., Burton, D.R. and Roit, I.M. (2006). Essential Immunology. Blackwell Scientific Publications, Oxford. 3. Harris, H. (1980). The Principles of Human Biochemical Genetics. North-Holland/ Elsevier, Boston. 4. Kindt, T.J., Goldsby, R.A. and Osborne, B.A. (2007). Kuby Immunology .W.H. Freeman and Co., New York 5. Lodish, H., Berk, A., Kaiser, A.C., Krieger, M., Scott, M.P., Bretscher, A., Ploegh, H. and Matsudaira, P. (2008). Molecular Cell Biology. W.H. Freeman and Co., New York, 6th Ed. 6. Nelson, D.L. and Cox, M.M. (2010). Lehninger's Principles of Biochemistry. W.H. Freeman and Co., New York, 5th Ed. 7. Parham, P. (2009). The Immune System. Taylor and Francis Group, New York.

25 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

HGP-452 LAB EXERCISES IN HUMAN CYTOGENETICS Credits: 0-0-2

Demonstration of short-term blood lymphocyte culture — Washing and sterilization of glassware and plasticware, Preparation of solutions and culture medium, Harvesting the culture, Staining, Banding and Scoring of prepared slides, Demonstration of photomicrography, Developing and printing of photographs, Karyotyping of solid stained and G-banded chromosome preparations, Identification of structural and numerical chromosomal aberrations from photographs, Numericals on chromosome nomenclature.

26 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

HGP-453 HUMAN PHYSIQUE AND BODY COMPOSITION PRACTICAL Credits: 0-0-1.5 Somatotyping by Heath and Carter's method, Anthropometric determination of body composition by various predication equations (i.e., body density, percent body fat and lean body mass) and bioelectrical impedance analysis.

27 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

HGP-454 HUMAN PHYSIOLOGY PRACTICAL Credits: 0-0-1.5 Bleeding and clotting time. Haemoglobin concentration estimation, RBC and WBC counts, Haematocrit estimation, Osmotic fragility of RBC, ESR estimation, Blood pressure and pulse rate estimation, Movements at joints, Estimation of respiratory indices with spirometer.

28 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

HGL-461 HUMAN EVOLUTION Credits: 3-0-0 Unit-I Introduction to human evolution and primatology, Major human fossil sites of the world, Pre- human ancestors, Evolutionary trends, salient features, classification and distribution, tools and adaptation of different stages of Hominid evolution (Australopithecine, Pithecanthropine, Neanderthal and Modern stages), Characteristics of modern human. Unit-II Reconciliation between neutral and synthetic theory, Molecular clock, Introduction to coalescence with respect to Wright-Fisher model, Estimating effective population size to measure evolutionary parameters. Unit-III Genetic differentiation among human population through fossil evidences and geographical structure, Models of modern human origin under Out of Africa (OOA) and Multi-Regional (MR) models, Catalogues of Humankind, Continuous versus discontinuous models of human variations, Introduction to molecular phylogenetics. Books Recommended 1. Balding, D.J., Bishop, M. and Cannings (Eds.) (2007). Handbook of Statistical Genetics. John Wiley and Sons Ltd., England, Vol. 1&2, 3rd ed. 2. Hartl, D.L. and Clark, A.G. (2007). Principles of Population Genetics. Sinaur Associates, Inc., Massachusetts, 4th ed. 3. Hedrick, P.W. (2011). Genetics of Population. Jones and Bartlett Publishers, Massachusetts, 4th ed. 4. Jobling, M.A., Hurles, M. and Tyler-Smith, C. (2004). Human Evolutionary Genetics: Origin, Peoples and Diseases. Taylor and Francis Group, New York. 5. Relethford, J.H. (2007). The Human Species: An Introduction to Biological Anthropology. McGraw-Hill, USA.

29 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

HGL-462 LAB DESIGN AND BIOSAFETY GUIDELINES Credits: 3-0-0 Unit-I Risk classification of laboratory, Design and safety guidelines for biosafety level, I, II, III, IV laboratories, Laboratory animal facility. Unit-II Safe laboratory techniques for transport, storage, banding of human blood, sputum, urine, tissue samples, Handling and storage of hazardous chemicals, Chemical incompatibility, Safe work practices and procedures, Health hazards of chemicals. Unit-III Use and care of pipettes, Pipetting aids, Centrifuges, Ovens, Incubators, Sterilizers, Biological safety cabinets, Microincinerators, Microscopes, Electrophoresis apparatus, Emergency procedures for fire and chemical exposure, Safety checklist.

Books Recommended 1. WHO (World Health Organization) (1993). Laboratory Biosafety Manual. AITBS Publishers, Delhi, 2nd ed. 2. WHO (World Health Organization) (2003). Laboratory Biosafety Manual. WHO, Geneva. 3. Wilson, K. and Walker, J. (2010). Principles and Techniques of Biochemistry and Molecular Biology. Cambridge University Press, London, 7th ed.

30 M.Sc. (Honours) Human Genetics (Semester-II) (Credit Based Continuous Evaluation Grading System)

Books Recommended: 1. Cummings, M.R. (2009). Human Genetics. Cenage Learning, USA. 2. Czepulkowski, B. (2004). Analysing Chromosomes. Bios Scientific Publishers Ltd., Oxford, 3. Farzaneh, F. and Cooper, D.N (Eds.) (1995). Functional Analysis of the Human Genome. Bios Scientific Publishers Ltd., Oxford. 4. Freshney, R.I. (2010). Animal Cell Culture: A Practical Approach. IRL Press, Oxford, 2nd Ed. 5. Gardner, E.J. (2012). Human Genetics. Viva Books Pvt. Ltd., India. 6. Gersen, S.L. and Keagle, M.B. (2005). The Principles of Clinical Cytogenetics. Humana Press, USA, 2nd Ed. 7. Hancock, J.H. (2008). Molecular Genetics. Viva Books Pvt. Ltd., India. 31 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

32 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

HGL-453 HUMAN PHYSIQUE AND BODY COMPOSITION

Credits: 3-0-0

Unit-I

Unit-II

Unit-III

33 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

34 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

Unit-III Brief description of structure and function of autonomic nervous system, Anatomy and physiology of Eye, Ear, Skin and Touch receptors, Structure and functions of endocrine glands.

Books Recommended:

6. Drake, R., Vogl, W. and Mitchell, A. (2010). Gray's Anatomy for Students. Churchill Livingstone, USA. 7. Guyton, A.C. and Hall, J.E. (2011). Textbook of Medical Physiology. Elsevier Publications, New York. 8. Marieb, E.N. and Hoehen, N. K. (2012). Human Anatomy and Physiology. Benjamin Cummings;., 9th Ed 9. Standring, S. (2008). Gray's Anatomy. Churchill Livingstone, USA. 40th Ed. 10. Tortora, G.J. and Henderson, S.R. (2012). Principles of Anatomy and Physiology. Harper Collins College Publishers.

35 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

36 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

HGL-457 HUMAN BIOCHEMICAL GENETICS AND IMMUNOGENETICS

Credits: 3-0-0

Unit-I

Unit-II

Unit-III

Books Recommended:

8. Abbas, A.K., Lichtman, A.H. and Pillai, S. (2010). Cellular and Molecular Immunology. WB Saunders Co., USA. 9. Delves, P.J., Martin, S.J., Burton, D.R. and Roit, I.M. (2006). Essential Immunology. Blackwell Scientific Publications, Oxford. 10. Harris, H. (1980). The Principles of Human Biochemical Genetics. North-Holland/ Elsevier, Boston. 11. Kindt, T.J., Goldsby, R.A. and Osborne, B.A. (2007). Kuby Immunology .W.H. Freeman and Co., New York 12. Lodish, H., Berk, A., Kaiser, A.C., Krieger, M., Scott, M.P., Bretscher, A., Ploegh, H. and Matsudaira, P. (2008). Molecular Cell Biology. W.H. Freeman and Co., New York, 6th Ed. 13. Nelson, D.L. and Cox, M.M. (2010). Lehninger's Principles of Biochemistry. W.H. Freeman and Co., New York, 5th Ed. 14. Parham, P. (2009). The Immune System. Taylor and Francis Group, New York.

37 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

HGP-452 LAB EXERCISES IN HUMAN CYTOGENETICS Credits: 0-0-2

38 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

39 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

40 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

41 M.Sc. (Honours) Human Genetics (Semester–II) (Credit Based Continuous Evaluation Grading System)

Books Recommended 4. WHO (World Health Organization) (1993). Laboratory Biosafety Manual. AITBS Publishers, Delhi, 2nd ed. 5. WHO (World Health Organization) (2003). Laboratory Biosafety Manual. WHO, Geneva. 6. Wilson, K. and Walker, J. (2010). Principles and Techniques of Biochemistry and Molecular Biology. Cambridge University Press, London, 7th ed.

42 M.Sc. (Honours) Human Genetics (Semester-III) (Credit Based Continuous Evaluation Grading System)

HGL-501 QUANTITATIVE GENETICS

Credits: 3-0-0

Unit-I Calculation of population mean and variation, Average effects of genes, Measurements of total genetic variances, Genetic and environmental components of variance, Heritability estimation through twin data, Measures of heterozygosity and gene diversity (through Nei and others), Selection favouring heterozygotes, Test for genetic heterogeneity for two alleles, Descriptive epidemiology, incidence and prevalence.

Unit-II The linkage disequilibrium and measures of D. Polygenic model for quantitative traits, Kinship and genetic sharing. Notation of genetic distances with different index, Measurements of standard genetic distances of Nei, Natural selection and sex ratio, Measurements of genetic similarities and distance between the populations, Analysis of racial differences on the basis of polymorphic genes.

Unit-III Estimation of genetic correlation, Resemblance between relatives and concept of heritability, Gene fixation probability and fixation time, Effective population size and population bottlenecks, Concept and significance of genetic admixture, Estimating admixture proportions from frequencies of a single allele, Quantitative trait loci (QTL), Introduction to molecular phylogenetics, Unweighted pair group method (UPGMA), Neighbour-joining (NJ) method, Genetic diversity within and among population, Phenotypic plasticity, Cultural transmission, Wright's F-statistics and G-statistics.

Books Recommended 1. Balding, D.J., Bishop, M. and Cannings, C.C. (Eds.) (2007). Handbook of Statistical Genetics. John Wiley and Sons, England, Vol. 1 and 2, 3rd ed. 2. Brandon, R.N. (1996). Concepts and Methods in Evolutionary Biology. Cambridge University Press, USA. 3. Cavalli-Sforza, L.L. and Bodmer, W.F. (1971). The Genetics of Human Population. W.H. Freeman and Co., San Francisco, CA. 4. Falconer, F.S. and MacKay, T.F.C. (1996). Introduction to Quantitative Genetics. ELBS/Longman, England, 4th ed. 5. Hamilton, M.B. (2009). Population Genetics. Wiley-Blackwell, USA. 6. Hartl, D.L. and Clark, A.G. (2007). Principles of Population Genetics. Sinaur Associates, Inc., Massachusetts, 4th ed. 7. Hedrick, P.W. (2011). Genetics of Population. Jones and Bartlett Publishers, Massachusetts, 4th ed. 8. Neale, B., Ferreira, M.A.R., Medland, S.E. and Posthuma, D. (Eds.) (2008). Statistical Genetics: Gene Mapping through Linkage and Association. Taylor and Francis Group, USA. 43 M.Sc. (Honours) Human Genetics (Semester–III) (Credit Based Continuous Evaluation Grading System)

HGL-502 FUNCTIONAL GENOMICS

Credits: 3-0-0

Unit-I Split genes and overlapping genes, DNA hybridization/denaturation, DNA cot curves, Multigene families and repetitive DNA, Genetic mechanisms resulting in sequence exchanges, pathogenic mutations and repeated sequences, Structure and function of microRNAs, snRNA, RNA interference, Role of microRNAs in human disease diagnostics.

Unit-II Genetic approaches in treating human diseases, Principles and applications of gene therapy, Methods of transferring transgenes into target cells, Gene therapy for cystic fibrosis, Duchenne muscular dystrophy, bleeding disorders and severe combined immunodeficiency syndrome.

Unit-III DNA sequencing and its applications, DNA profiling, DNA fingerprinting and its applications, DNA microarray and its applications, Transcriptomics, Evolution of mitochondrial genome, eukaryotic nuclear genome, human sex chromosome, human DNA sequence families and DNA organization, gene structure and modern humans.

Books Recommended

1. Brown, T.A. (2005). Genetics: A Molecular Approach. Bios Scientific Publishers Ltd., Oxford, 3rd ed. 2. Brown, T.A. (2006). Genomes 3. Bios Scientific Publishers Ltd., Oxford, 3rd ed. 3. Brown, T.A. (2010). Gene Cloning and DNA Analysis: An Introduction. Blackwell Publishing Co., Oxford, 6th ed. 4. Strachan, T. and Read, A. (2010). Human Molecular Genetics. Garland Publishers, London, 4th ed. 5. Sudbery, P. and Sudbery I (2009). Human Molecular Genetics. Pearson Education, UK, 3rd ed. 6. Primrose, S.B. and Twyman, R.M. (2003). Principles of Genome Analysis and Genomics. Blackwell Publications, London. 7. Watson, J.D., Myers, R.M., Caudy, A.A. and Witkowski, J.A. (2007). Recombinant DNA Genes and Genomes – A Short Course. Cold Spring Harbor Laboratory Press, 3rd ed.

44 M.Sc. (Honours) Human Genetics (Semester–III) (Credit Based Continuous Evaluation Grading System)

HGL-504 RESEARCH DESIGN AND METHODOLOGY

Credits: 2-1-0

Unit-I Research problem, Objectives and hypothesis, Uses of sources of information such as journals, books, Index Medicus, Excerpta Medica, Biological Abstract, Science Citation Index, Preparing a manuscript for publication, Editing and galley proof correction of manuscript, Protocol content for research project, Scientific presentation.

Unit-II Sampling concepts, Questionnaire, Schedule, Advantage, Limitations and precautions of sampling, Common methods of random sampling, Area sampling, Non-random methods of sampling, Prognostic and concomitant variables, Cohort and longitudinal study, Case-control and nested case-control design, Cross-sectional studies with merits and demerits, Sample size determination, general consideration and power analysis.

Unit-III Statistical significance and ‘P’-values, Null and alternative hypothesis, Type-I and Type-II errors, General procedure to obtain ‘P’-value, Test of methods through sensitivity, specificity and likelihood ratio, Positive and negative predictivity, Odds ratio for independent and matched samples.

Books Recommended

1. Dear, P.H. (Ed.) (1997). Genome Mapping. IRL Press / Oxford University Press, U.K. 2. Ford, E.D. (2000). Scientific Methods in Ecological Research. Cambridge University Press, UK. 3. Gurumani, N. (2007). Research Methodology for Biological Sciences. M.J.P. Publishers, India. 4. Hawkins, C. and Sorgi, M. (1985). Research – How to Plan, Speak and Write about it. Springer-Verlag, Berlin. 5. Indrayan, A. (2008). Medical Biostatistics. Chapman and Hall, New York. 6. Kothari, C.R. (2009). Research Methodology: Methods and Techniques. New Age International Publication, New Delhi.

45 M.Sc. (Honours) Human Genetics (Semester–III) (Credit Based Continuous Evaluation Grading System)

HGL-505 HUMAN EMBRYOLOGY AND DEVELOPMENTAL GENETICS

Credits: 3-0-0

Unit-I Fertilization and molecular events during fertilization, and prenatal development of human embryo up to three germinal layers. differential gene activity and cell differentiation, Gastrulation, cleavage patterns, fate map during gastrulation, Notochord formation, Neurulation, Formation of somites, Structure of somites, Formation of blood vessels.

Unit-II Implantation, Formation and types of placenta, Genetic and molecular control of development of head and neck region, development of nervous system.

Unit-III Genetic and molecular control of development of limbs, gastrointestinal system and cardiovascular system, Genetics of sex determination in humans and development of urogenital system.

Books Recommended

1. Gilbert, S.F. (2011). Developmental Biology. Sinnauer Association, Inc., Sunderland, MA. 2. Mueller, R.F. and Young, I.D. (2010). Emery's Elements of Medical Genetics. Churchill Livingstone, New York, 11th ed. 3. Nussbaum, R.L., McInnes, R.R. and Willard, H.F. (2001). Thompson and Thompson Genetics in Medicines. W.B. Saunders and Co., New York, 6th ed. 4. Sadler, T.W. (2010). Langman's Medical Embryology. Williams and Wilkins, Philadelphia, USA, 11th ed. 5. Snustad, P. and Simmons, M.J. (2010) Principle of Genetics. John Wiley and Sons, Inc., N.J., USA. 6. Singh, I. and Paul, G.P. (2009). Human Embryology. McMillan Co., New Delhi.

46 M.Sc. (Honours) Human Genetics (Semester–III) (Credit Based Continuous Evaluation Grading System)

HGS-506 Seminar

Credits: 1-0-0

The paper is based on the seminars delivered by the students on current topics related to various disciplines of human genetics.

47 M.Sc. (Honours) Human Genetics (Semester–III) (Credit Based Continuous Evaluation Grading System)

HGP-502 FUNCTIONAL GENOMICS PRACTICAL

Credits: 0-0-3

Preparation of different stock solutions for DNA extraction and electrophoresis, Preparation of working solutions from stock solutions, Extraction of DNA from human blood by organic method, DNA quantification, Amplification of genomic DNA by PCR, PCR-RFLP, Qualitative and quantitative estimation of carbohydrates, Lipids and proteins.

48 M.Sc. (Honours) Human Genetics (Semester–III) (Credit Based Continuous Evaluation Grading System)

HGL-511 IMMUNOGENETICS IN HEALTH AND DISEASE

Credits: 3-0-0

Unit-I Immunoassays to assess primary and secondary antigen-antibody interaction, Evaluation of lymphocyte function, Monoclonal and genetically engineered antibodies, Cell culture systems, Experimental animal models in immunogenetics.

Unit-II Autograft, isograft, allograft, xenograft, Immunological basis of graft rejection, Clinical characteristics of allograft rejection, HLA typing, Circumvention of alloimmune response, Maternal-fetal incompatibility, Role of MHC in resistance and susceptibility to diseases.

Unit-III Tumor antigens, Limitations of effectiveness of immune response against tumors, Immunodiagnosis of tumor antigens, Types and properties of immunotolerance, T-cell tolerance to self-antigens, B-cell tolerance to self-antigens, Central tolerance, Peripheral tolerance, Acquired allogeneic tolerance.

Books Recommended

1. Abbas, A.K., Lichtman, A.H. and Pillai, S. (2010). Cellular and Molecular Immunology. WB Saunders Co., USA. 2. Benjamini, E., Coico, R. and Sunshine, G. (2009). Immunology: A Short Course. John Wiley and Sons, Inc., New York. 3. Delves, P.J., Martin, S.J., Burton, D.R. and Roit, I.M. (2006). Essential Immunology. Blackwell Scientific Publications, Oxford. 4. Kindt, T.J., Goldsby, R.A. and Osborne, B.A. (2007). Kuby Immunology. W.H. Freeman and Co., New York. 5. Parham, P. (2009). The Immune System. Taylor and Francis Group, New York.

49 M.Sc. (Honours) Human Genetics (Semester–III) (Credit Based Continuous Evaluation Grading System)

HGL 512 ESSENTIALS OF MEDICAL GENETICS

Credits: 3-0-0

Unit-I Historical development of medical genetics, Impact of genetics in medicine, Spectrum of genetic diseases (single gene, chromosomal, multifactorial, mitochondrial, somatic cell genetic diseases) and patterns of their inheritance.

Unit-II Medical relevance of meiosis and mitosis, Genesis and consequences of chromosomal abnormalities, Somatic and germ-line mosaicism, Mutations and their clinical consequences, Human gene and mutation nomenclature, Human genetic variations and use of polymorphisms in medical genetics.

Unit-III Twin studies, Dysmorphology, Congenital anomalies and birth defects, General concepts on enzyme deficiencies and diseases, Impact of disease on the patient and family, Treatment and management of genetic diseases.

Books Recommended

1. Brown, S.M., Hay, H.G., and Ostrer, H. (2009). Essentials of Medical Genomics. Blackwell Scientific Publication, USA, 2nd ed. 2. Jorde, L.B., Carey, J.C. and Bamshad, M.J. (2010). Medical Genetics. Elsvier, Mosby, 4th ed. 3. Nussbaum, R.L., McInnes, R.R. and Willard, H.F. (2007). Thompson and Thompson Genetics in Medicine. W.B. Saunders and Co., New York, 7th ed. 4. Tobias, E.S., Connor, M. and Smith, M.F. (2011). Essential Medical Genetics, Blackwell Scientific Publication, USA. 5. Turnpenny, P.D. (2012). Emery's Elements of Medical Genetics. Churchill Livingstone, New York, 14th ed. 6. WHO (World Health Organization) (2000). Primary Health Care Approaches for Prevention and Control of Congenital and Genetic Disorders. WHO, Geneva. 7. WHO (World Health Orgzanization) (2003). World Atlas of Birth Defects. WHO, Geneva, 2nd ed. 8. Young, I.D. (2010). Medical Genetics. Oxford University Press, 1st ed.

50 M.Sc. (Honours) Human Genetics (Semester-IV) (Credit Based Continuous Evaluation Grading System)

HGL-551 PERSPECTIVES OF HUMAN GENOME AND BIOETHICS

Credits: 3-0-0 Unit-I The Human Genome Project, Goals and organization, Benefits and ELSI, Draft and complete sequence of the human genome, Overview of human genome diversity project, Environmental human genome project, Cancer genome anatomy project, The SNP project, The Phenome project, Toxicogenomics, Transcriptomics, Metabolomics/Metabonomics.

Unit-II Bioethics — Its historical aspects, Types and scope, Rights'-based ethics theories, Duty-based ethics theories and utilitarian ethics, Basic aspects of autonomy, Non-maleficience, beneficience and justice, Informed consent and confidentiality, Universality of bioethics, Bioethical maturity, Environmental ethics. Unit-III Ethical dilemmas — Contexual vignettes in medical genetic advances, Genetic selection, Germline gene therapy, Genetic screening, Health and disease, Genetic determinism, Genome ownership, Genetic discrimination, Genetic insurance, Genetic privacy, Genome patenting, Assisted reproduction.

Books Recommended 1. Almond, B. and Parker, M. (Eds.) (2003). Ethical Issues in New Genetics: Are Genes Us? Ashgate Publishing Ltd., England. 2. Azariah, J., Azariah H. and Macer D.R.J. (1998). Bioethics in India. Eubios Ethics Institute Publications, Japan. 3. Beauchamp T.L. and Childress, J.F. (1994). Principles of Biomedical Ethics. Oxford University Press. New York. 4. Bryant, A., Baggott la Velle, L. and Searle, J. (Eds.) (2002). Bioethics for Scientists. John Wiley and Sons Ltd., England. 5. Gibson, G. and Muse, S.U. (2002). A Primer of Genome Science. Sinauer. 6. Macer, D.R.J. (1998). Bioethics is Love of Life: Alternative Textbook. Eubios Ethics Institute Publications, Japan. 7. Macer, D.R.J. (Ed.) (2000). Ethical Challenges As We Approach the End of the Human Genome Project. Eubios Ethics Institute Publications, Japan. 8. Rose, P.W. and Lucassen, A. (1999). Practical Genetics for Primary Care. Oxford University Press, U.K. 9. Wilson, G.N. (2000). Clinical Genetics: A Short Course. Wiley-Liss, New York. Websites and Electronic References http://www.nhgri.nih.gov/ http://www.ncbi.nlm.nih.gov/ http://www.hgmp.mrc.ac.uk./GenomeWeb/ http://www.ncbi.nlm.nih.gov/genemap99/ http://www.ncbi.nlm.nih.gov/CGAP http://www.ncbi.nlm.nih.gov/HUGO http://www.ebi.ac.uk/~sterk/genome-MOT/ http://www-fp.mcs.anl.gov/~gaasterland/genomes.html http://www.jax.org/ http://www.biol.tsukuba.ac.jp/ http://www.nuffieldbioethics.org 51 M.Sc. (Honours) Human Genetics (Semester-IV) (Credit Based Continuous Evaluation Grading System)

HGL-552 APPLIED HUMAN MOLECULAR GENETICS

Credits: 3-0-0

Unit-I Principles and strategies in identifying disease gene, Genetic and physical mapping of human genome, Mapping and cloning of human disease genes, Direct and indirect DNA testing and its applications, DNA-based diagnosis of genetic diseases, Population screening.

Unit-II Comparative genomic hybridization (CGH), DNA chips, DNA dragnets, Principles and application of denaturing high pressure liquid chromatography (dHPLC), Multiplex ligation- dependent probe amplification (MLPA), Mass spectrometry (MS), Tandem mass spectrometry (TMS), Matrix assisted laser desorption/ionization time of flight (MALDI-TOF), Next generation sequencing (NGS) and its applications.

Unit-III Molecular genetics of retinoblastoma, Glaucoma, Marfan syndrome, DMD, Cystic fibrosis, Huntington's disease, Complex human diseases like NIDDM, Hypertension, Cardiovascular disorders, Obesity, Molecular genetics of mitochondrial disorders.

Books Recommended

1. Brandon, C. and Tooze, J. (1999). Introduction to Protein Structure. Garland Publishers, London. 2. Brown, T.A. (2002). Genomes. Oxford Scientific Publications, London. 3. Brown, T.A. (2005). Genetics: A Molecular Approach. Bios Scientific Publishers Ltd., Oxford, 3rd ed. 4. Brown, T.A. (2006). Genomes 3. Bios Scientific Publishers Ltd., Oxford, 3rd ed. 5. Brown, T.A. (2010). Gene Cloning and DNA Analysis: An Introduction. Blackwell Publishing Co., Oxford, 6th ed. 6. Gleck, B.R. and Pasternack, J.R. (2003). Molecular Biotechnology: Principles and Applications of Recombinant DNA. ASM Press, Washington. 7. Korf, B.R. (2007). Human Genetics and Genomics. Blackwell Scientific Publication, USA, 3rd ed. 8. Lewin, B. (2008). Genes-IX. Jones and Barlett Publishers, Inc., USA. 9. Schena, M. (2003). Microarray Analysis. Wiley-Liss, New York. 10. Strachan, T. and Read, A. (2010). Human Molecular Genetics. Garland Publishers, London. 4th ed. 11. Sudbery, P. and Sudbery, I. (2009). Human Molecular Genetics. Pearson Education, UK, 3rd ed. 12. Wilson, K. and Walker, J. (2000). Practical Biochemistry, Principles and Techniques. Cambridge University Press, 5th ed.

52 M.Sc. (Honours) Human Genetics (Semester-IV) (Credit Based Continuous Evaluation Grading System)

HGL-556 MEDICAL AND CLINICAL GENETICS

Credits 3-1-0

Unit-I Role of genetics in medicine, Types of genetic disorders with examples, Concept of genetic heterogeneity, Reduced penetrance, Variable expressivity, Pseudoautosomal inheritance, Pleiotropy, Genomic imprinting, Mosaicism and uniparental disomy with suitable examples.

Unit-II Sex chromosomal and differentiation anomalies, Pharmacogenetic diseases, Prion diseases, Prenatal diagnosis, Dysmorphology, Teratogenicity, Genetic screening, Presymptomatic and predispositional testing.

Unit-III Genetic counselling, Case management and preventive management guidelines (Down syndrome, Achondroplasia, Marfan syndrome), Gene therapy and stem cell research, Genetic registers.

Books Recommended

1. Jorde, L.B., Carey, J.C. and Bamshad, M.J. (2010). Medical Genetics. Mosby, 4th ed. 2. Nussbaum, R.L., McInnes, R.R. and Willard, H.F. (2007). Thompson and Thompson Genetics in Medicine. Saunders, 7th ed. 3. Read, A. and Donnai, D. (2010). New Clinical Genetics. Scion, U.K., 2nd ed. 4. Tobias, E.S., Connor, M. and Smith, M.F. (2011). Essential Medical Genetics. Wiley- Blackwell. 5. Turnpenny, P.D. (2012). Emery's Elements of Medical Genetics. Churchill Livingstone, 14th ed. 6. Speicer, M., Antonarakis, S.E. and Motulsky, A.G. (Eds.) (2010). Vogel and Motulsky's Human Genetics: Problems and Approaches. Springer-Verlag, 4th ed.

53 M.Sc. (Honours) Human Genetics (Semester-IV) (Credit Based Continuous Evaluation Grading System)

HGL-554 STRUCTURAL BIOLOGY AND PHARMACOGENOMICS

Credits: 3-0-0

Unit-I Structures of proteins — Primary, secondary and tertiary, Basic dipeptide unit, Conformational variables, α-helix, β-sheet and their prediction from primary sequence, Common three dimensional folds/motifs found in proteins (e.g., three-helix bundle, zinc finger, etc.).

Unit-II Basic principles of conformational analysis, Theoretical and experimental methods for the determination of sizes of proteins, Physical nature of non-covalent interactions, Introduction to Ramachandran plot.

Unit-III Pharmacogenomics of obesity-related hypertension, Diabetes and other cardiovascular diseases, Basics of drug discovery, Role of functional genomics in new drug discovery and drugable genome, Genome-guided identification and validation of drug targets, Role of SNPs in drug discovery and development.

Books Recommended

1. Brandon, C. and Tooze, J. (1999). Introduction to Protein Structure. Garland Publishers, London. 2. Hartl, D.L. and Jones, E.W. (2005). Genetics: Analysis of Genes and Genomes. Jones and Barlett Publishers, Massachusetts. 3. Jain, K.K. (2001). Drug Discovery: Current Trends and Future Prospects. Urch Publishers, London. 4. Leach, A.R. (2010). Molecular Modelling: Principles and Applications. Dorling Kindersley (India) Pvt. Ltd. 5. Nelson, D.L. and Cox, M.M. (2010). Lehninger's Principles of Biochemistry. W.H. Freeman and Co., New York, 5th ed.

54 M.Sc. (Honours) Human Genetics (Semester-IV) (Credit Based Continuous Evaluation Grading System)

HGP-552 HUMAN MOLECULAR GENETICS PRACTICAL

Credits: 0-0-3

DNA isolation, Amplification of genomic DNA by PCR, Agarose gel electrophoresis of amplified products, Polyacrylamide gel electrophoresis (PAGE), PCR-SSCP analysis, Demonstration of RT-PCR, Biological database searches (MEDLINE, NCBI, ENSEMBL, UCSC, GDB, PDB, HGMD, RetNet).

55 M.Sc. (Honours) Human Genetics (Semester-IV) (Credit Based Continuous Evaluation Grading System)

HGP-553 MEDICAL AND CLINICAL GENETICS PRACTICAL

Credits 0-0-2

Pedigree analysis, Numericals and case studies, Karyotyping from abnormal chromosomal preparations, Designing proformae (Primary ammenorhea, Mental retardation), Taking history, Preconceptional screening and counselling, Online medical genetics resources.

56 M.Sc. (Honours) Human Genetics (Semester-IV) (Credit Based Continuous Evaluation Grading System)

HGL-411 REGULATORY APPROACHES IN HUMAN GENETICS

Credits: 3-0-0

Unit-I Historical overview for regulatory approaches for research in human genetics and protection of human subjects (Eugenics, Experiments during and after World War-II, The Tuskegee Trial, Body Doe Case), The Hippocratic oath (old and modern versions), The Nuremberg code, Declaration of Helsinki.

Unit-II Overview of reprogenetics, Consumer genetics, Personal genomics, Public health genetics, Community genetics, Regenerative medicine, Organ transplantation, Euthanasia, Intellectual property rights, International guidelines and regulations for conducting human genetics research — Universal Declaration on the Human Genome and Human Rights, International Ethical guidelines for biomedical research involving human subjects (CIOMS-WHO).

Unit-III The Indian scenario — Genetically modified organisms, Human genetic modifications, Reproductive genetic testing, Cloning, Genetic Engineering Approval Committee (GEAC), Drugs and Cosmetics Act, The Patents Act, The Medical Termination of Pregnancy Act, The Preconception and Prenatal Diagnostic Techniques Act, The Transplantation of Human Organs Act.

Useful Links

1. Department of Biotechnology, Ministry of Science and Technology, Government of India, Ethical Policies on the Human Genome, Genetic Research and Services. (www.dbtindia.nic) 2. Indian Council of Medical Research, Consultative Document on Ethical Guidelines for Biomedical Research on Human Subjects. (www.icmr.nic.in) 3. Indian Council of Medical Research, Guidelines for preparing Standard Operating Procedures (SOP) for Institutional Ethics Committee for Human Research. (www.icmr.nic.in) 4. Indian Council of Medical Research, National Guidelines for Accreditation, Supervision and Regulation of ART Clinics in India. (www.icmr.nic.in) 5. Indian Council of Medical Research, Statement on Specific Principles on Human Genetics Research. (www.icmr.nic.in) 6. Indian Council of Medical Research and the Department of Biotechnology, Draft Guidelines for Stem Cell Research and Therapy. (www.icmr.nic.in; www.dbtindia.nic) 7. Indian Council of Medical Research and Ministry of Health and Family Welfare, Good Clinical Laboratory Practices. (www.icmr.nic.in) 8. Statement on Gene Therapy Research (adopted by the Human Genome Organization, HUGO). (www.hugo-international.org) 9. WIPO (World Intellectual Property Organization) (www.wipo.int). 10. World Medical Association Declaration of Helsinki (Ethical Principles for Medical Research Involving Human Subjects) (www.cioms.ch; www.who.int) 11. WTO. Agreement on Trade-Related Aspects of Intellectual Property Rights (TRIPS) is part of the agreements of the World Trade Organization (www.wto.org).

57 M.Sc. (Honours) Human Genetics (Semester-IV) (Credit Based Continuous Evaluation Grading System)

HGL-412 BIOLOGICAL DEMOGRAPHY

Credits: 3-0-0

Unit-I Some basic concepts of demography — Family, Marriage, Reproductive span, Fertility, Fecundity, Sterility, Morbidity, Mortality, Stillbirth, Live-birth, Foetal death, Abortion, Child death, Birth order, Parity, Cohort, Growth rate, and Migration.

Unit-II Sources of demographic data, Factors affecting fertility, mortality, migration, sex ratio, Population structure, Density of population, Determinants of population growth.

Unit-III Principles of epidemiology, Epidemiology of communicable and non-communicable diseases, Concept of health and diseases, Family planning programme in India, Urbanization, Factors responsible for urban-rural population distribution.

Books Recommended

1. Hinde, A. (1998). Demographic Methods. Oxford University Press, Inc., New York. 2. Krishna Reddy, M.M. (1996). An Introduction to Demographic Behaviour in India. Kanishka Publishers, Distributors, New Delhi. 3. Krishnan, P., Tuan, C.-H. and Mahadevan, K. (1992). Readings in Population Research. B.R. Publishing Corpn., Delhi. 4. Majumdar, P.K. (2010). Fundamentals of Demography. Rawant Publications, Jaipur. 5. Raj, H. (2004). Fundamentals of Demography. Surjeet Publications, Delhi. 6. Shrivastava, O.S. (1994). Demography and Population Studies. Vikas Publishing House Pvt. Ltd., New Delhi. 7. Srinivasan, K. (1998). Basic Demographic Techniques and Applications. Sage Publications, New Delhi.