FACULTY OF LIFE SCIENCES - Guru Nanak Dev Universitygndu.ac.in/syllabus/201516/LIFE/MSC HONS HUMAN GENETICS SEMESTER I T… · 5 M.Sc. Human Genetics (Semester–I) (C redit Based

FACULTY OF LIFE SCIENCES

SYLLABUS

FOR

M.Sc. HUMAN GENETICS (CBCEGS)(SEMESTER: I - II)

(FOR NEW ADMISSION)

&

M.Sc. (Hons.) HUMAN GENETICS (CBCEGS)(SEMESTER: III - IV)

(FOR OLD ADMISSION)

Examinations: 2015-16

GURU NANAK DEV UNIVERSITYAMRITSAR

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.

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

1

SCHEME OF COURSESSemester-I

CourseNo.

C/E/I Course Title L T P TotalCredits

Core Courses (27 Credits)HGL-304 C Human Growth, Physique and Body

Composition 3 0 0 3

HGL-401 C Molecular Genetics 3 0 0 3HGL-402 C Principles of Human Genetics 3 0 0 3HGL-404 C Human Anatomy and Physiology-I 3 0 0 3HGL-405 C Computer Applications 3 0 0 3HGL-406 C DNA Technology 3 0 0 3MTL-261 C Biostatistics 3 1 0 4HGP-304 C Human Growth, Physique and Body

Composition Practical 0 0 1.5 1.5

HGP-402 C Principles of Human Genetics and MolecularGenetics Practical

0 0 2 2

HGP-404 C Human Anatomy Practical 0 0 1.5 1.5Total Credits 21 1 5 27

Semester-IICourse

No.C/E/I Course Title L T P Total

CreditsCore Courses (18.5 Credits)HGL-452 C Human Cytogenetics 3 0 0 3HGL-454 C Human Anatomy and Physiology-II 3 0 0 3HGL-456 C Human Population Genetics and Variation 3 0 0 3HGL-457 C Human Biochemical Genetics and

Immunogenetics 3 0 0 3

HGL-458 C Research Design and Methodology 2 1 0 3HGP-452 C Lab Exercises in Human Cytogenetics 0 0 2 2HGP-454 C Human Physiology and Immunology Practical 0 0 1.5 1.5

Elective Course (3 Credits)HGL-462 E Lab Design and Biosafety Guidelines 3 0 0 3HGL-463 E Tissue Culture and Microscopy 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 20 1 3.5 24.5

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.

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

2

(FOR OLD STUDENTS WHO ADMITTED IN SESSION 2014-15)

SCHEME OF COURSESSemester-III

CourseNo.


Core Courses (19 Credits)HGL-422 C Medical Genetics 3 1 0 4HGL-501 C Quantitative Genetics 3 0 0 3HGL-502 C Functional Genomics 3 0 0 3HGL-505 C Human Embryology and Developmental

Genetics 3 0 0 3

HGS-506 C Seminar 0 0 1 1HGP-422 C Medical Genetics Practical 0 0 2 2HGP-502 C Functional Genomics Practical 0 0 3 3

Elective Course (3 Credits)HGL-511 E Immunogenetics in Health and Disease 3 0 0 3HGL-514 E Genetics of Human Pathogens and Infectious

Diseases 3 0 0 3


Total Credits 18 1 6 251. 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.

3M.Sc. (Hons.) Human Genetics (Semester System)

(Credit Based Continuous Evaluation Grading System)

(FOR OLD STUDENTS WHO ADMITTED IN SESSION 2014-15)

SCHEME OF COURSESSemester-IV

CourseNo.


Core Courses (18 Credits)HGL-472 C Clinical Genetics and Genetic Counselling 3 1 0 4HGL-551 C Perspectives of Human Genome and

Bioethics 3 0 0 3

HGL-552 C Applied Human Molecular Genetics 3 0 0 3HGL-554 C Structural Biology and Pharmacogenomics 3 0 0 3HGP-472 C Clinical Genetics Practical 0 0 2 2HGP-552 C Applied Human Molecular Genetics

(Practical) 0 0 3 3

HGD-591 – Dissertation* (To be graded as satisfactory/unsatisfactory)

0 0 0 0

Elective Course (3 Credits)HGL-411 E Regulatory Approaches in Human Genetics 3 0 0 3HGL-412 E Biological Demography 3 0 0 3


Total Credits 18 1 5 241. 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.

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

4

HGL-304 HUMAN GROWTH, PHYSIQUE AND BODY COMPOSITION

Credits: 3-0-0

Unit-IMethods of studying growth, Laws of growth, Somatic changes in fetal period, childhood,puberty and ageing, Growth monitoring, Secular trend, Catch-up growth, Factors influencinggrowth.

Unit-IIIdentification of abnormal growth, Endocrine growth disorders, Chromosome aberrations andgrowth, Growth patterns in chronic diseases.

Unit-IIIMethods of studying human physique and body composition, gross components of human body,dysplasia, gynandromorphy, skeletal maturity, dental maturity and sexual maturity.

Books Recommended

1. Forbes, C.B. (1987). Human Body Composition. Springer-Verlag, New York.2. Ghai, O.P., Gupta, P. and Paul, V.K. (2004). Essential Pediatrics. CBS Publishers and

Distributors, New Delhi, 6th Revised ed.3. Gibney, M.J., Macdonald, I.A. and Rocho, H.M. (2004). Nutrition and Metabolism.

Blackwell Publishing Co., Oxford.4. Harrison, G.A. Weiner, J.S. Tanner, J.M. and Barnicot, N.A. (1990). Human Biology.

Oxford University Press.5. Mcardle, W.D., Katch, F.I. and Katch, V.L. (2001). Exercise Physiology. Williams and

Wilkins, Lippincott.6. Singh, S.P. and Mehta, P. (2009). Human Body Measurements: Concepts and Applications.

PHI Learning Pvt. Ltd., New Delhi.7. Ulizaszek, S.J., Johnston, F.E. and Preece. M.A. (1998). The Cambridge Encyclopedia of

Human Growth and Development. Cambridge University Press.

5M.Sc. Human Genetics (Semester–I)


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.



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.



HGL-402 PRINCIPLES OF HUMAN GENETICS

Credits: 3-0-0

Unit-IOverview of historical milestones in Human Genetics, Fields of Human Genetics, Molecularorganization of nuclear and mitochondrial genome, Transposable elements in Human Genome,Genetic maps, Physical maps.

Unit-IIModes of inheritance in humans, Mendelian and non-Mendelian inheritance in humans,Multifactorial inheritance and quantitative traits, Threshold model and recurrence risks, Dosagecompensation and X-inactivation, Sex-linked, Sex-limited and Sex-influenced traits, true- andpsuedohermaphrodites, Mosaics and chimeras.Cytogenetic basis of variation in chromosome number and structure, Marker chromosomes.

Unit-IIIVarious types of mutations, Role of radiations and chemicals in inducing mutations, Effects ofmutations, Mutation rates in humans, Pleiotropy.Chromosomal basis of neoplasia, Role of proto-oncogenes, oncogenes and tumor-suppressorgenes in cancer, Chromosomal instability syndromes — Ataxia telangectasia, Fanconi anemia,Bloom's syndrome, Nijmegen breakage syndrome, Genetic toxicology assays.

Books Recommended

1. Cummings, M.R. (2009). Human Genetics. Cenage Learning, USA.2. Farzaneh, F. and Cooper, D.N (Eds.) (1995). Functional Analysis of the Human Genome.

Bios Scientific Publishers Ltd., Oxford.3. Gardner, E.J. (2008). Human Genetics. Viva Books Pvt. Ltd., India.4. Hancock, J.H. (2008). Molecular Genetics. Viva Books Pvt. Ltd., India.5. Harper, P.S. (2006). First Years of Human Chromosomes. Scion, USA.6. Korf, B.R. and Irons, M.B. (2013). Human Genetics and Genomics. Wiley-Blackwell,

Malaysia, 4th ed.7. Sambamurty, A.V.S.S. (2006). Genetics. Narosa Publishing House, New Delhi.8. Strachan, T. and Read, A. (2011). Human Molecular Genetics. Bios Scientific Publishers,

Oxford, 4th ed.9. Sumner, A.T. (2003). Chromosomes: Organization and Function. Blackwell Publishing Co.,

Oxford.10. Tamarin, R.H. (2002). Principles of Genetics. Tata McGraw Hill, USA, 7th ed.11. Therman, E. and Miller, O.J. (2001). Human Chromosomes. Springer-Verlag, New York,

4th ed.12. Weinberg, R.A. (2014). The Biology of Cancer. Garland Science, USA, 2nd ed.



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




HGL-405 COMPUTER APPLICATIONS

Credits: 3-0-0

Unit–IComputer fundamentals, Internet basics and MS-Office 2003, Introduction to digital computers,Organization, Number system, I/O devices, Storage devices, Introduction to internet and itsapplications – www, email, ftp.MS-Windows basics, MS-Word – Meaning of Word–Processing, Creating, Saving, Printingdocuments, 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, Addingeffects and timings.

Unit–IIData analysis and database – Brief description and tabulation of data, Measure of centraltendency and dispersion – Mean, Median, Mode, Range, Standard Deviation, Variance andCorrelation 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–IIIVirtual library and some useful sites on Internet – Searching MEDLINE on the Pubmed systemfrom 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 LinksDatabases (Genes Bank), search tools and software at http://www.ncbi.nlm.nih.gov.Restriction enzyme site digestion webcutter2.0 athttp://www.firsmarket.com/cutter/cut2.html.PCR and multiplex PCR guide and troubleshooting athttp://www.med.yale.edu/genetics/ward/tavi/Trblesht.htmlImage analysis program at http//www.scioncorp.com.



HGL-406 DNA TECHNOLOGY

Credits: 3-0-0

Unit-INucleic acid probes, Methods of labelling probes, Polymerase chain reaction (PCR) andapplications, Principles and applications of Southern blotting, Northern blotting, Westernblotting, Dot blotting, DNA footprinting, Two-dimensional gel electrophoresis (2DE) and Pulse-field gel electrophoresis.

Unit-IIAn overview of recombinant DNA (rDNA) technology, Cloning vectors; Plasmids, Cosmids,Phagemids, Enzymes used in DNA technology — Restriction endonucleases, Ligases, Kinasesand 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-IIIPrinciples and applications of amplification refractory mutation system (ARMS), Single-strandconformational polymorphism (SSCP), Simple sequence length polymorphism (SSLP),Restriction fragment length polymorphism (RFLP), Denaturing high-pressure liquidchromatography (dHPLC), Denaturing gradient gel electrophoresis (DGGE), DNA sequencing,Serial analysis of gene expression (SAGE).

Books Recommended

1. Brown, T.A. (2010). Gene Cloning and DNA Analysis: An Introduction. BlackwellPublishing Co., Oxford, 6th ed.

2. Dieffenbach, C.W. and Dveksler, G.S. (2003). PCR Primer: A Laboratory Manual. ColdSpring 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 Co., 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.



MTL-261 BIOSTATISTICS

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

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

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

Probability — Mathematical definition of probability of an event, Use of permutations andcombinations in calculations of Probability, Conditional probability, Additive and Multiplicationlaw of Probability, Random Variables and its pmf, pdf, cdf, Mathematical expectation andvariances, Theoretical Distributions: Binomial, Poisson and normal, Properties of thesedistributions (applications only).

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

Analysis of Variance — Meaning of analysis variance with linear models, Analysis of variancefor one-way classified data, Analysis of variance for two-way classified data with oneobservation for cell, analysis of variance for two-way classified data with multiple but equalnumber 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 ResearchOxford and IBH Publishing Co. [Chapters: 2,3,4,5,7,8,9 and 10].



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.



HGP-304 HUMAN GROWTH, PHYSIQUE AND BODY COMPOSITION PRACTICAL

Credits: 0-0-1.5

Landmarks, Somatometric measurements, Assessment of nutritional status from anthropometricmeasurements, Heath and Carter method of somatotyping, Body composition assessment fromskinfolds, and Bioelectrical impedance analysis (BIA).



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



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.

16M.Sc. Human Genetics (Semester-II)


HGL-452 HUMAN CYTOGENETICS

Credits: 3-0-0Unit-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.

17M.Sc. Human Genetics (Semester–II)


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.



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




HGL-456 HUMAN POPULATION GENETICS AND VARIATION


Historical emergence, Application and subdivisions of human population genetics, Dynamicsand conditions of the Hardy-Weinberg law and its application for autosomal locus with twoalleles and multiple alleles, Computation of testing of Hardy-Weinberg proportion.

Unit-IIKinetics of changes of gene frequencies, Non-recurrent and recurrent mutation, Mutationpressure and estimation of rates, Genetic load and mutational currency, Basic selection modelwith recessive lethal and recessive, general dominance and heterozygotes, Selection coefficientand fitness, Heterozygous advantages, Equilibrium between mutation and selection, Dynamics ofmigration and the effects of genetic drifts.

Unit-IIIConsanguinity and inbreeding, Inbreeding coefficient of a population and individuals throughpath analysis, Computation of Wright's F-statistics, Biological consequences of inbreeding,Concept of genetic load and its measurements, Concept of human races through UNESCOguidelines, 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 characteristicsamong different ethnic populations.Books Recommended1. 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.



HGL-457 HUMAN BIOCHEMICAL GENETICS AND IMMUNOGENETICS

Credits: 3-0-0

Unit-I

Molecular structure, biosynthesis and genetics of the ABH antigens, Quantitative and qualitativevariation 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 immunesystem, Humoral and cell-mediated immune responses, Complement system, Inflammation,Overview of antigen and antibody structure, Multigene organization of Ig genes, V-Jrearrangements in light chain DNA, V-D-J rearrangement in heavy chain DNA, Enzymaticjoining 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 andclass-II molecules; class-I MHC-peptide interaction, Class-II MHCpeptide interaction,Polymorphism of class-I and class-II molecules; Class-III molecules, MHC in infectiousdiseases.

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. Freemanand 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.



HGL-458 RESEARCH DESIGN AND METHODOLOGY

Credits: 2-1-0

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

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

Unit-IIIStatistical significance and ‘P’-values, Null and alternative hypothesis, Type-I and Type-IIerrors, General procedure to obtain ‘P’-value, Test of methods through sensitivity, specificityand likelihood ratio, Positive and negative predictivity, Odds ratio for independent and matchedsamples.

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.



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.



HGP-454 HUMAN PHYSIOLOGY AND IMMUNOLOGY PRACTICAL

Credits: 0-0-1.5

Bleeding and clotting time, Hemoglobin concentration estimation, Haematocrit estimation,Plasma and serum isolation, Osmotic fragility of RBC, Blood pressure, Mean arterial pressureand pulse pressure estimation, Estimation of respiratory indices with spirometer, Enzyme-linkedimmunosorbent assay (ELISA), Double immunodiffusion (DID), Immunoelectrophoresis,Agglutination reactions, Flow cytometry, Immunofluorescence.



HGL-462 LAB DESIGN AND BIOSAFETY GUIDELINES(Elective Paper)

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.



HGL-463 TISSUE CULTURE AND MICROSCOPY(Elective Paper)

Credits: 3-0-0

Unit-IBasic laboratory procedures for tissue culture, Overview of cell culture and harvest, peripheralblood samples, bone marrow aspirates, amniotic fluid specimens, solid tissue samples, culturemaintenance and growth interval, Banding, Cell viability assays, Mitotic index.

Unit-IIHigh resolution studies, Cell synchronization techniques, Culture failure, Preservation of cells,Chromosomal analysis, Fundamentals of microscopy, Bright field microscopy, Videomicroscopy and image processing.

Unit-IIIFluorescence microscopy and related techniques, Confocal microscopy, Electron microscopy,Theoretical and practical aspects of SEM and TEM, Specimen preparation for electronmicroscopy.

Books Recommended

1. Gersen, S.L. and Keagle, M.B. (2005). The Principles of Clinical Cytogenetics. HumanaPress, 2nd ed.

2. Karp, G. (2014). Cell Biology. Wiley, 7th ed.3. Rooney, D.E. and Czepulkowski, B.H. (1992). Human Cytogenetics: A Practical Approach.

IRL Press, Vol. 1&2, 2nd ed.4. Stoddart, M.J. (2011). Mammalian Cell Viability: Methods and Protocols. Humana Press,

New York.

26M.Sc. (Hons.) Human Genetics (Semester-III)


HGL-422 MEDICAL GENETICS


Growth and development of medical genetics (1956-to-present), Role of genetics in medicine,Types of genetic disorders — single gene, chromosomal, multifactorial. Genetic disorders withclassical Mendelian inheritance with examples, Medical relevance of meiosis and mitosis,Dominance and recessiveness, Mechanism of dominance, Concept of phenotype and relationshipbetween genotype and phenotype in genetic disease.

Unit-IIConcepts of genetic heterogeneity, Reduced penetrance, Variable expressivity, Pseudoautosomalinheritance, Genomic imprinting, Mosaicism, Uniparental disomy and Pleiotropy with suitableexamples, Consequences of consanguineous marriages, Mitochondrial diseases.

Unit-IIIPharmacogenetic diseases (Hereditary disorders with altered drug response, Malignanthyperthermia, G-6-PD deficiency), Chromosomal instability syndromes, Sex chromosomal anddifferentiation anomalies, Chromosomal microdeletion syndromes, Prion diseases, Genemapping in DMD, CF, HD.

Books Recommended

1. Hudgins, L., Toriello, H.V. Enns, G.M. and Hoyme, H.E. (Eds.) (2014). Signs andSymptons of Genetic Conditions: A Handbook. Oxford University Press, London, 1st ed., p.560.

2. Jorde, L.B., Carey, J.C. and Bamshad, M.J. (2010). Medical Genetics. Mosby, 4th ed.3. Korf, B.R. and Irons, M.B. (2013). Human Genetics and Genomics. John Wiley and Sons,

Hoboken, 4th ed.4. Nussbaum, R.L., McInnes, R.R. and Willard, H.F. (2007). Thompson & Thompson Genetics

in Medicine. Saunders, 7th ed.5. Rimoin, D.L., Pyeritz, R.E. and Korf, B.R. (2013). Emery and Rimoin's Essential Medical

Genetics. Academic Press, New York, 1st ed.6. Rimoin, D.L., Pyeritz, R.E. and Korf, B.R. (2013). Emery and Rimoin's Principles and

Practice of Medical Genetics. Academic Press, New York, 6th ed.7. Rosenberg, L.E. and Rosenberg, D.D. (2012). Human Genes and Genomes: Science, Health,

Society. Academic Press, 1st ed.8. Speicher, M., Antonarakis, S.E. and Motulsky, A.G. (Eds.) (2010). Vogel and Motulsky's

Human Genetics: Problems and Approaches. Springer Verlag, 4th ed.9. Strachan, T., Goodship, J. and Chinnery, P. (2014). Genetics and Genomics in Medicine.

Garland Science, New York, 1st ed.10. Tobias, E.S., Connor, M. and Ferguson-Smith, M. (2011). Essential Medical Genetics.

Wiley-Blackwell, 6th ed.11. Turnpenny, PD. (2012). Emery's Elements of Medical Genetics. Churchill Livingstone, 14th

ed.

27M.Sc. (Hons.) Human Genetics (Semester–III)


HGL-501 QUANTITATIVE GENETICS

Credits: 3-0-0

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

Unit-IIThe linkage disequilibrium and measures of D. Polygenic model for quantitative traits, Kinshipand genetic sharing. Notation of genetic distances with different index, Measurements ofstandard genetic distances of Nei, Natural selection and sex ratio, Measurements of geneticsimilarities and distance between the populations, Analysis of racial differences on the basis ofpolymorphic genes.

Unit-IIIEstimation 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 fromfrequencies of a single allele, Quantitative trait loci (QTL), Introduction to molecularphylogenetics, 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 Recommended1. 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.



HGL-502 FUNCTIONAL GENOMICS

Credits: 3-0-0

Unit-ISplit genes and overlapping genes, DNA hybridization/denaturation, DNA cot curves, Multigenefamilies and repetitive DNA, Genetic mechanisms resulting in sequence exchanges, pathogenicmutations and repeated sequences, Structure and function of microRNAs, snRNA, RNAinterference, Role of microRNAs in human disease diagnostics.

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

Unit-IIIDNA 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 DNAorganization, 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.



HGL-505 HUMAN EMBRYOLOGY AND DEVELOPMENTAL GENETICS

Credits: 3-0-0

Unit-IFertilization and molecular events during fertilization, and prenatal development of humanembryo 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-IIImplantation, Formation and types of placenta, Genetic and molecular control of development ofhead and neck region, development of nervous system.

Unit-IIIGenetic and molecular control of development of limbs, gastrointestinal system andcardiovascular system, Genetics of sex determination in humans and development of urogenitalsystem.

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.



HGS-506 SEMINAR

Credits: 0-0-1

The paper is based on the seminars delivered by the students on current topics related to variousdisciplines of Human Genetics.



HGP-422 MEDICAL GENETICS PRACTICAL

Credits: 0-0-2

Analysis of different modes of inheritance, Numericals and case studies on medical genetics,Karyotyping from abnormal chromosomal preparations, Genetic databases — OMIM, Londondysmorphology database, Possum, Repertox, Human cytogenetics database, Online medicalgenetics resources – OMIM, Gene clinics, Gene tests, ESHG; Sites for patients — GeneticAlliance, Family village.



HGP-502 FUNCTIONAL GENOMICS PRACTICAL

Credits: 0-0-3

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



HGL-511 IMMUNOGENETICS IN HEALTH AND DISEASE

(Elective Paper)

Credits: 3-0-0

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

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

Unit-IIITumor antigens, Limitations of effectiveness of immune response against tumors,Immunodiagnosis of tumor antigens, Types and properties of immunotolerance, T-cell toleranceto 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. JohnWiley 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. Freemanand Co., New York.

5. Parham, P. (2009). The Immune System. Taylor and Francis Group, New York.



HGL-514 GENETICS OF HUMAN PATHOGENS AND INFECTIOUS DISEASES(Elective Paper)

Credits: 3-0-0

Unit-IIntroduction to pathogens, common bacterial, viral and protozoal pathogens and theirmolecular interaction with the host, Common strategies to colonize host, Co-evolutionbetween host and pathogen, Evolution of virulence and pathogenicity, Pathogenicity islands,Evolution of antibiotic resistance (MRSA strains), Molecular mechanisms for origin of newpathogens.

Unit-IIRole of host genetic factors in infectious diseases, Genetic theory of infectious diseases, Geneticepidemiology of infectious diseases, Identifying infectious disease susceptibility genes, Use ofmouse models for genetic susceptibility to infectious diseases, Genetic diversity in MHC andimmune responses to infectious diseases.

Unit-IIIGenetic determinants and major genes affecting common infectious diseases, Mycobacterialdiseases; Tuberculosis and Leprosy, Viral Diseases, Hepatitis-B and Hepatitis-C, HIV/AIDS,Common protozoal diseases, Malaria, RBC genes and Malaria, Leishmaniasis, Genetic variationin response to vaccination.

Books Recommended

1. Alberts, B., Johnson, A. and Lewis, J. (2002). Molecular Biology of the Cell. GarlandScience, New York, 4th ed.

2. Kimman, T.G. (2001). Genetics of Infectious Disease Susceptibility. Springer Science andBusiness Media.

3. Richard, A., Kaslow, M.D., Janet, M., McNicholl, M.D. and Hill, A.V.S. (2008). GeneticSusceptibility to Infectious Diseases. Oxford University Press, USA.

4. Willey, J., Sherwood, L. and Woolverton, C. (2010). Prescott's Microbiology. McGraw-HillHigher Education, 8th ed.

35M.Sc. (Hons.) Human Genetics (Semester-IV)


HGL-472 CLINICAL GENETICS AND GENETIC COUNSELLING

Credits: 3-1-0

Unit-IClinical Applications of Medical Genetics — Prenatal diagnosis: purpose, indications andtechniques — invasive and non-invasive, Amniocentesis, Chorionic villus sampling, Ultrasound,Fetoscopy, Maternal serum screening, Fetal cells in maternal blood, Preimplantation diagnosis,Effect of mutagenic and teratogenic exposure in early pregnancy.

Unit-IICarrier screening — criteria for heterozygous screening programmes, Carrier testing forautosomal recessive and X-linked disorders, Risk calculations, Population screening for geneticdisease — adult, newborn, Clinical utilization of presymptomatic and predispositional testing,Presymptomatic testing for genetic diseases and malignancy.

Unit-IIIGenetic Counselling — Process, Role of genetic counsellors, Diagnostic problems in geneticcounselling, Psychosocial aspects of genetic counselling, Genetic care pathway and preventivemanagement guidelines. Role of social workers, nutritional, occupational, physical, speechtherapist, psychologists and school professionals in genetics, Gene therapy and stem cell researchin clinical genetics.

Books Recommended

1. Cassidy, S.B. and Allanson, J.E. (2010). Management of Genetic Syndromes. Wiley-

Blackwell, 3rd ed.

2. Gardner, R.J.M., Sutherland, G.R. and Shaffer, L.G. (2011). Chromosome Abnormalities

and Genetic Counselling. Oxford University Press, 4th ed.

3. Gunder, L.M.and Sudbury, S.A.M. (2011). Essentials of Medical Genetics for Health

Professionals. Jones and Bartlett Learning.

4. Hudgins, L., Toriello, H.V. Enns, G.M. and Hoyme, H.E. (Eds.) (2014). Signs and

Symptons of Genetic Conditions: A Handbook. Oxford University Press, London, 1st ed., p.

560.

5. Jorde, L.B., Carey, J.C. and Bamshad, M.J. (2010). Medical Genetics. Mosby, 4th ed.

6. Korf, B.R. and Irons, H.B. (2013). Human Genetics and Genomics. John Wiley and Sons,

Hoboken, 4th ed.



7. Nussbaum, R.L., McInnes, R.R. and Willard, H.F. (2007). Thompson & Thompson Genetics

in Medicine. Saunders, 7th ed.

8. Mummery, C., Wilut, I., Van de Stolpe, A. and Roelen, B.A.J. (Eds.). (2011). Stem Cells:

Scientific Facts and Fiction. Academic Press, London.

9. Pritchard, D.J. and Korf, B.R. (2013). Medical Genetics at a Glance. Wiley-Blackwell, 3rd

ed.

10. Read, A. and Donnai, D. (2010). New Clinical Genetics. Scion, U.K., 2nd ed.

11. Rimoin, D.L., Pyeritz, R.E. and Korf, B.R. (2013). Emery and Rimoin's Essential Medical

Genetics. Academic Press, New York, 1st ed.

12. Rosenberg, L.E. and Rosenberg, D.D. (2012). Human Genes and Genomes: Science, Health,

Society. Academic Press, 1st ed.

13. Strachan, T., Goodship, J. and Chinnery, P. (2014). Genetics and Genomics in Medicine.

Garland Science, New York, 1st ed.

14. Strachan, T. and Read, A. (2011). Human Molecular Genetics. 4th ed., Garland Publishers,

New York.

15. Tobias, E.S., Connor, M. and Ferguson-Smith, M. (2011). Essential Medical Genetics.

Wiley-Blackwell, 6th ed.



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/Hap Map project, The

Phenome project, The Metabolome project..

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. Beauchamp, T.L. and Childress, J.F. (1994). Principles of Biomedical Ethics. Oxford

University Press, New York.

3. Bryant, A., Baggott la Velle, L. and Searle, J. (Eds.) (2002). Bioethics for Scientists. John

Wiley and Sons Ltd., England.

4. Jecker, N.S., Jonsen, A.R. and Pearlman, R.A. (2010). Bioethics: An Introduction to

History, Methods and Practice. Jones and Bartlett, New Delhi, 2nd ed.



5. Macer, D.R.J. (1998). Bioethics is Love of Life: Alternative Textbook. Eubios Ethics

Institute Publications, Japan.

6. Macer, D.R.J. (Ed.) (2000). Ethical Challenges As We Approach the End of the Human

Genome Project. Eubios Ethics Institute Publications, Japan.

7. Quackenbush, J. (2011). The Human Genome: The Book of Essential Knowledge. Imagine,

New York.

8. Rosenberg, L.E. and Rosenberg, D.D. (2012). Human Genes and Genomes: Science, Health,

Society. Academic Press, 1st ed.

9. Yashon, R.K. and Cummings, M.R. (2012). Human Genetics and Society. Oxford

University Press.

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



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), 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. Brown, T.A. (2002). Genomes. Oxford Scientific Publications, London.

2. Brown, T.A. (2005). Genetics: A Molecular Approach. Bios Scientific Publishers Ltd.,

Oxford, 3rd ed.

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. Gleck, B.R. and Pasternack, J.R. (2003). Molecular Biotechnology: Principles and

Applications of Recombinant DNA. ASM Press, Washington.

6. Korf, B.R. (2007). Human Genetics and Genomics. Blackwell Scientific Publication, USA,

3rd ed.

7. Lewin, B. (2008). Genes-IX. Jones and Barlett Publishers, Inc., USA.

8. Schena, M. (2003). Microarray Analysis. Wiley-Liss, New York.

9. Strachan, T. and Read, A. (2010). Human Molecular Genetics. Garland Publishers, London,

4th ed.

10. Sudbery, P. and Sudbery, I. (2009). Human Molecular Genetics. Pearson Education, UK,

3rd ed.



HGL-554 STRUCTURAL BIOLOGY AND PHARMACOGENOMICS

Credits: 3-0-0

Unit-ITertiary structures of DNA, Hoogstein base pairing, Triple helices, DNA toplogy, Supercoiling,Common structural motifs in RNA, General principles of protein structure, Primary structure,Peptide unit, Basic dipeptide unit, Introduction to Ramachandran plot, Secondary and tertiarystructures, α-helix, β-sheet, Common three dimensional folds/motifs found in proteins and theirmode of interaction with DNA.

Unit-IIPrediction of secondary structure from primary structure, Protein folding, Levinthal paradox,Physical nature of non-covalent interactions, Experimental methods for protein purification,Overview of methods used for determination of protein structure, Introduction to structuraldatabases for protein studies.

Unit-IIIPharmacogenomics of obesity-related hypertension, Diabetes and other cardiovascular diseases,Basics of drug discovery, Role of functional genomics in new drug discovery and drugablegenome, Genome-guided identification and validation of drug targets, Role of SNPs in drugdiscovery 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. (2001). Molecular Modelling. Principles and Applications. Addison Wesley

Longman, Essex.

5. Nelson, D.L. and Cox, M.M. (2008). Lehninger's Principles of Biochemistry. W.H. Freeman

and Co., New York.



HGP-472 CLINICAL GENETICS PRACTICAL

Credits: 0-0-2

Case studies, Designing proformas (Thalassemia, Primary ammenorhea, Mental retardation,Recurrent abortions, Prenatal screening questionnaire, Taking history, Preconceptional screeningand counselling, Case management of selected genetic diseases (Congenital anomalies, Downsyndrome, Achondroplasia, Marfan syndrome, Dysmorphology, and Clinical teratology).Genetic registers, importance and maintenance.



HGP-552 APPLIED HUMAN MOLECULAR GENETICS (PRACTICAL)

Credits 0-0-3

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



HGD-591 DISSERTATION

The topic of the dissertation and the name of the supervisor are to be finalized during

Semester-II. Experimental work on dissertation project will begin in Semester-III. The

dissertation is to be submitted before theory examinations of Semester-IV.



HGL-411 REGULATORY APPROACHES IN HUMAN GENETICS(Elective Paper)

Credits: 3-0-0

Unit-IHistorical overview for regulatory approaches for research in Human Genetics and protection ofhuman subjects (Eugenics, Experiments during and after World War-II, The Tuskegee Trial,Body Doe Case); Oaths, Codes and Declarations — Charak samitha, The Hippocratic oath (oldand modern versions), The Nuremberg code, Declaration of Geneva, Declaration of Helsinki.

Unit-IIOverview of reprogenetics, Consumer genetics, Personal genomics, Public health genetics,Community genetics, Regenerative medicine, Organ transplantation, Euthanasia, Intellectualproperty rights, International guidelines and regulations for conducting Human Genetics research— Universal Declaration on the Human Genome and Human Rights, International EthicalGuidelines for Biomedical Research involving Human Subjects (CIOMS-WHO).

Unit-IIIThe Indian guidelines for genetically-modified organisms (GMOs), Stem cell research, ART andfor conducting biomedical research on human subjects. Relevant Indian Legislation — Drugsand Cosmetics Act, The Patents Act, The Medical Termination of Pregnancy Act, ThePreconception and Prenatal Diagnostic Techniques Act, The Transplantation of Human OrgansAct.

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).



HGL-412 BIOLOGICAL DEMOGRAPHY

(Elective Paper)

Credits: 3-0-0

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

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

Unit-IIIPrinciples of epidemiology, Epidemiology of communicable and non-communicable diseases,Concept of health and diseases, Family planning programme in India, Urbanization, Factorsresponsible 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.

Documents

FACULTY OF LIFE SCIENCES - Guru Nanak Dev Universitygndu.ac.in/syllabus/201516/LIFE/MSC HONS HUMAN GENETICS SEMESTER I T… · 5 M.Sc. Human Genetics (Semester–I) (C redit Based