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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 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. 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 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. *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.