GURU NANAK DEV UNIVERSITY AMRITSARgndu.ac.in/syllabus/201314/LIFE/MSC HONS HUMAN... · HGP-402 C Principles of Human Genetics and Molecular Genetics Practical 0 0 2 2 HGP-403 C Human

FACULTY OF LIFE SCIENCES

SYLLABUS

FOR

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

(Semester: I-IV)

Session: 2013-14

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 No.

C/E/I Course Title L T P Total 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 Molecular Genetics Practical

0 0 2 2

HGP-403 C Human Growth and Development Practical

0 0 1.5 1.5

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.



SCHEME OF COURSES

Semester-II

Course No.


Core Courses (20 Credits)

HGL-452 C Human Cytogenetics 3 0 0 3

HGL-453 C Human Physique and Body C iti

3 0 0 3

HGL-454 C Human Anatomy and Physiology-II 3 0 0 3

HGL-456 C Human Population Genetics and 3 0 0 3 HGL-457 C Human Biochemical Genetics and

Immunogenetics 3 0 0 3

HGP-452 C Lab Exercises in Human Cytogenetics 0 0 2 2 HGP-453 C Human Physique and Body

Composition Practical 0 0 1.5 1.5

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 3Total 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.



SCHEME OF COURSES

Semester-III

Course No.


Core Courses (21 Credits) HGL-501 C Quantitative Genetics 3 0 0 3 HGL-502 C Functional Genomics 3 0 0 3 HGL-503 C Medical Genetics 3 0 0 3 HGL-504 C Research Design and Methodology 2 1 0 3 HGL-505 C Human Embryology and Developmental

Genetics 3 0 0 3

HGS-506 C Seminar 1 0 0 1 HGP-521 C Functional Genomics Practical 0 0 3 3 HGP-522 C Medical Genetics Practical 0 0 2 2 Elective Course (3 Credits) HGL-581 E Lab Design and Biosafety Guidelines 3 0 0 3 HGL-582 E Regulatory Approaches in Human

Genetics 3 0 0 3

HGL-583 E Immunogenetics in Health and Disease 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 1 5 27

Interdisciplinary/Optional Course (3 Credits) — For other departments HGL-491 I Human Genetics in Health and Disease 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 other Life Sciences / Sciences departments. 3. Interdisciplinary course “HGL-491 Human Genetics in Health and Disease” is offered for

the students of other Life Sciences / Sciences departments.



SCHEME OF COURSES

Semester-IV

Course No.


Core Courses (17 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-553 C Clinical Genetics and Genetic

Counselling 3 0 0 3

HGL-554 C Structural Biology and Pharmacogenomics

3 0 0 3

HGP-571 C Human Molecular Genetics Practical 0 0 3 3 HGP-572 C Clinical Genetics and Genetic

Counselling Practical 0 0 2 2

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

0 0 0 0

Interdisciplinary/Optional Course (3 or 4 Credits) – I To be taken from outside the department 3 0 0 3

Total Credits 15 0 5 20 Interdisciplinary/Optional Course (3 Credits) — For other departments HGL-492 I Introductory Human Genetics 3 0 0 3 1. The students are required to take one paper (Interdisciplinary/Optional) of 3 or 4 credits of

their choice from other Life Sciences / Sciences departments. 3. Interdisciplinary course “HGL-492 Introductory Human Genetics” is offered for the

non-biology students of other departments. *Topic of dissertation and name of supervisor to be finalized during Semester-II.

5 M.Sc. (Honours) 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-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.



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.



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.



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–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.



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.



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].



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-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-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.



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)


HGL-452 HUMAN CYTOGENETICS


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.



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-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.



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.



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, 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.



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.



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-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.



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.



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.



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-III)


HGL-501 QUANTITATIVE GENETICS Credits: 3-0-0

Unit-I

Polygenic variation, Genetic and environmental components of variance, Heritability estimation through twin data, Measures of heterozygosity and gene diversity (through Nei and others), Test for genetic heterogeneity for two alleles, Descriptive epidemiology, incidence and prevalence.

Unit-II 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&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-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. Krawczak, M. and Schmidt, J. (1994). DNA Fingerprinting. Bios Scientific Publishers Ltd.,

Oxford. 5. Kumar, H.D. (2004) Genomics and Cloning Technology – Applications. Affiliated East

West Press Pvt. Ltd., New Delhi. 6. Strachan, T. and Read, A. (2010). Human Molecular Genetics. Garland Publishers, London,

4th Ed. 7. Sudbery, P. and Sudbery I (2009). Human Molecular Genetics. Pearson Education, UK,

3rd Ed. 8. Primrose, S.B. and Twyman, R.M. (2003). Principles of Genome Analysis and Genomics.

Blackwell Publications, London. 9. 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. 10. Wilson, K. and Walker, J. (2000). Practical Biochemistry, Principles and Techniques.

Cambridge University Press, 5th Ed.



HGL-503 MEDICAL GENETICS


Overview of growth of medical genetics (1956-to-present), Role of genetics in medicine, Genetic disorders with classical Mendelian inheritance, Chromosomal and multifactorial disorders, Dominance and recessiveness, Mechanism of dominance, Concept of phenotype and relationship between genotype and phenotype in genetic disease.

Unit-II Concept of genetic heterogeneity, Reduced penetrance, Variable expressivity, Pseudoautosomal inheritance, Pleiotropy with suitable examples, Consequences of consanguineous marriages, Genomic imprinting, Mosaicism, Uniparental disomy, Mitochondrial inheritance, Retinoblastoma, Retinitis pigmentosa, Diabetes, Neural tube defects.

Unit-III Pharmacogenetic diseases (Hereditary disorders with altered drug response, Malignant hyperthermia, G-6-PD deficiency), Chromosomal instability syndromes, Sex chromosomal and differentiation anomalies, Chromosomal microdeletion syndromes, Gene mapping and linkage analysis in DMD, CF, RP, HD and congenital cataract, Long QT syndrome, Porphyrias, Prion 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. Connor, J.M. and Ferguson-Smith, M.A. (1987). Essential Medical Genetics. Blackwell

Scientific Publication, USA. 3. Emery and Rimoin (2002). Principles and Practice of Medical Genetics. Churchill

Livingstone, New York, Vol. 1-3, 4th Ed. 4. Geleherter, T.D. and Collins, F.S. (1990). Principles of Medical Genetics. Williams and

Wilkins, Baltimore. 5. Jorde, L.B., Carey, J.C. and Bamshad, M.J. (2010). Medical Genetics. Elsevier, Mosby,

4th Ed. 6. Kresina, T.F. (2000). An Introduction to Molecular Medicine and Gene Therapy. John

Wiley and Sons, New York. 7. Mueller, R.F. and Young, J.D. (2002). Emery's Elements of Medical Genetics. Churchill

Livingstone, New York, 11th Ed. 8. 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. 9. Templeton, N.S. and Lasic, D.D. (2000). Gene therapy, Therapeutic Mechanisms and

Strategies. Marcel-Dekker, Inc., New York. 10. Tobias, E.S., Connor, M. and Smith, M.F. (2011). Essential Medical Genetics, Blackwell

Scientific Publication, USA. 11. Turnpenny, P.D. (2012). Emery's Elements of Medical Genetics. Churchill Livingstone,

New York, 14th Ed. 12. Vogel, F. and Motulsky, A.G. (1996). Human Genetics: Problems and Approaches.

Springer-Verlag, Berlin, 3rd Ed. 13. Wilson, G.N. (2000). Clinical Genetics – A Short Course. John Wiley and Sons, New York. 14. Young, I.D. (2010). Medical Genetics. Oxford University Press, 1st Ed.



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, OUP, UK. 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.



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. Ghai, O.P. (1993). Essentials of Pediatrics. Interprint, New Delhi. 2. Gilbert, S.F. (2011). Developmental Biology. Sinnauer Association, Inc., Sunderland, MA. 3. Johnson, K.E. (1989). Human Developmental Anatomy. John Wiley and Sons, New York. 4. Mueller, R.F. and Young, I.D. (2002). Emery's Elements of Medical Genetics. Churchill

Livingstone, New York, 11th Ed. 5. 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. 6. Singh, I. and Paul, G.P. (2009). Human Embryology. McMillan Co., New Delhi. 7. Strachan, T. and Read, A. (2004). Human Molecular Genetics. Garland Publishers, London. 8. Ulijaszek, S.J., Johnston, F.E. and Preece, M.A. (1998). Human Growth and Development.

Cambridge University Press, Oxford. 9. Wilkins, A.S. (1993). Genetic Analysis of Animal Development. Wiley Liss, New York. 10. Sadler, T.W. (2010). Langman's Medical Embryology. Williams and Wilkins, Philadelphia,

USA, 11th Ed.



HGP-521 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.



HGP-522 MEDICAL GENETICS PRACTICAL

Credits: 0-0-2 Analysis of different modes of inheritance, Numericals on medical genetics, Disease survey (Field work), Karyotyping from abnormal chromosomal preparations, Genetic databases — OMIM, London dysmorphology database, Possum, Repertox, Human cytogenetics database, Online medical genetics resources — OMIM, Gene clinics, Gene tests, ESRG, Sites for patients — Genetic alliance, Family village.



HGL-581 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. Book 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. (2000). Practical Biochemistry: Principles and Techniques.

Cambridge University Press, London, 5th ed.



HGL-582 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).



HGL-583 IMMUNOGENETICS IN HEALTH AND DISEASE

Credits: 3-0-0

Unit-I Principles of immunogenetics, Coisogenic strains, Congenic strains, Inbred strains, Gene knockout strains — SCID mice, SCID human mice, Cell lines. Immune response to infectious agents, Evolution of MHC, Inheritance of susceptibility to tumor viruses, MHC association with resistance and susceptibility to disease.

Unit-II Major Histocompatibility Complex (MHC), Immunogenetic basis of tissue allotransplantation, Histocompatibility barriers, Immunogenetic aspects of tumor transplantation, Biochemical properties of histocompatibility antigens, Immunological basis of graft rejection, Role of immune response in allograft rejection, Clinical characteristics of allograft rejection, Various methods of HLA typing, Circumvention of alloimmune reactions.

Unit-III Types and properties of Immunotolerance — T-cell tolerance to self-antigens, B-cell tolerance to self-antigens, Central tolerance, Peripheral tolerance, Acquired allogeneic tolerance, Theories of immunological tolerance, Maternal-fetal incompatibility and natural selection, Immunological characteristics associated with blood groups. Books Recommended: 1. Benjamini, E., Coico, R. and Sunshine, G. (2009). Immunology: A Short Course. John

Wiley and Sons, Inc., New York. 2. Goldsby, R.A., Kindt, T.J. and Osborne, B.A. (2006). Kuby Immunology. W.H. Freeman

and Co., New York. 3. Hildemann, W.H. (1970). Immunogenetics. Holden-Day, San Francisco. 4. Janeway, C.A., Travers, P., Walport, M. and Capra, J.D. (2005). The Immune System in

Health and Disease. Garland Science Publishing, New York. 5. Kindt, T.J., Goldsby, R.A. and Osborne, B.A. (2007). Kuby Immunology .W.H. Freeman

and Co., New York. 6. Naik, S. and Aggarwal, S. (2007) Fundamentals of Immunogenetics: Principles and

Practices. International Book Distributing Co., Lucknow. 7. Parham, P. (2009). The Immune System. Taylor and Francis Group, New York.



HGL-491 HUMAN GENETICS IN HEALTH AND DISEASE

(For other Departments) Credits: 3-0-0

Unit-I

An overview of human genetics, Fields of human genetics, Human karyotype, Origin and consequences of point and chromosomal mutations, Gamete maturation and embryonic development, Sex ratios, Sexual development and dosage compensation, Human chromosomal abnormalities.

Unit-II Genetic traits, Diseases and disorders, Single gene disorders — Autosomal, X-linked, Y-linked, Human nuclear and mitochondrial genome, Structural and molecular organization, Mitochondrial, Multifactorial and polygenic (complex) disorders, The Human Genome Project, Human genetic variations.

Unit-III Applications — DNA fingerprinting and profiling, Prenatal diagnosis, Genetic testing, Gene and cell therapy, Cloning, Personalized medicine, Human genetics and ethical concerns. Books Recommended 1. Cummings, M.R. (2009). Human Heredity: Principles and Issues. Pacific Grove, CA:

Brooks/Cole. 2. Gardner, A. and Davies, T. (2009). Human Genetics. Scion Publishing, 2nd ed. 3. Korf, B.R. (2006). Human Genetics and Genomics: A Problem-Based Approach. Blackwell

Publishing Co., Oxford. 3rd Revised ed. 4. Lewis, R. (2008). Human Genetics: Concepts and Applications, McGraw-Hill Publishing,

New York, 8th ed. 5. Lewis, R. (2010). Human Genetics: The Basics. Routledge. 6. Mange, E.J. and Mange, A.P. (1999). Basic Human Genetics. Sinauer, Sunderland. 7. Skirton, H. and Patch, C. (2009). Genetics for the Health Sciences. Scion Publishing.

41 M.Sc. (Honours) Human Genetics (Semester-IV)


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 Univ.

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



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,

3rs 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. 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.



HGL-553 CLINICAL GENETICS AND GENETIC COUNSELLING Credits: 3-0-0

Unit-I Clinical applications of medical Genetics – Prenatal diagnosis: purpose, indications and techniques — invasive and non-invasive, Amniocentesis, Chorionic villus sampling, Ultrasonography, Fetoscopy, Maternal serum screening, Fetal cells in maternal blood, Preimplantation diagnosis, Effect of mutagenic and teratogenic exposure in early pregnancy, Carrier screening — Criteria for heterozygous — screening programmes, Carrier testing for autosomal recessive and X-linked disorders.

Unit-II Risk calculations, Population screening for genetic disease — adult, newborn, Clinical utilization of presymptomatic and predispositional testing, Presymptomatic testing for genetic diseases and malignancy, Genetic counselling — Definition and process, Role of genetic counsellors, Diagnostic problems in genetic counselling, Genetic counselling in unifactorial and multifactorial disorders, Psychosocial aspects of genetic counselling.

Unit-III Gene therapy and stem cell research in clinical genetics, Genetic care pathway and preventive management guidelines, Role of social workers, nutritional, occupational, physical, speech therapist, psychologists and school professionals in genetics, Approach to child with congenital anomalies — Down syndrome, Achondroplasia, Marfan syndrome, Dysmorphology and clinical teratology, Genetic registers, guidelines, characteristics, structure. Books Recommended: 1. Brown, S.M., Hay, H.G., and Ostrer, H. (2009). Essentials of Medical Genomics. Blackwell

Scientific Publication, USA, 2nd ed. 2. Connor, J.M. and Ferguson-Smith, M.A. (1987). Essential Medical Genetics. Blackwell

Scientific Publication, USA. 3. Emery and Rimoin (2002). Principles and Practice of Medical Genetics. Churchill

Livingstone, New York, Vol. 1-3, 4th ed. 4. Geleherter, T.D. and Collins, F.S. (1990). Principles of Medical Genetics. Williams and

Wilkins, Baltimore. 5. Gersen, S.L. and Keagle, M.B. (1999). The Principles of Clinical Genetics. Humana Press,

Totowa. 6. Korf, B.R. (2007). Human Genetics and Genomics. Blackwell Publishing Co., USA, 3rd ed. 7. Kresina, T.F. (2000). An Introduction to Molecular Medicine and Gene Therapy. John

Wiley and Sons, New York. 8. 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. 9. Read, A. and Donnai, D. (2007). New Clinical Genetics. Scion, U.K. 10. Templeton, N.S. and Lasic, D.D. (2000). Gene therapy, Therapeutic Mechanisms and

Strategies. Marcel-Dekker, Inc., New York. 11. Tobias, E.S., Connor, M. and Smith, M.F. (2011). Essential Medical Genetics, Blackwell

Scientific Publication, USA. 12. Turnpenny, P.D. (2012). Emery's Elements of Medical Genetics. Churchill Livingstone,

New York, 14th ed. 13. Vogel, F. and Motulsky, A.G. (1996). Human Genetics: Problems and Approaches.

Springer-Verlag, Berlin, 3rd ed. 14. Wilson, G.N. (2000). Clinical Genetics – A Short Course. John Wiley and Sons, New York. 15. Young, I.D. (2010). Medical Genetics. Oxford University Press, 1st ed.



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, Conformational properties of proteins, 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. (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-571 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).



HGP-572 CLINICAL GENETICS AND GENETIC COUNSELLING PRACTICAL

Credits: 0-0-2 Case studies, Designing proformae (Thalassemia, Primary amenorrhea, Mental retardation, Recurrent abortions, Prenatal screening), Taking family history, Preconceptional screening and counseling, Case management of selected genetic diseases, Genetic registers — Importance and maintenance.



HGL-492 INTRODUCTORY HUMAN GENETICS

(For Non-Biology Students) Credits: 3-0-0

Unit-I

Overview of genetics, Cell and cell components, Prokaryotic/eukaryotic cells, Cell division — Mitosis, Meiosis, Gametogenesis, Basic concepts of inheritance — Mendelian inheritance, Sex-linked inheritance, Multifactorial traits.

Unit-II Molecular basis of inheritance — Chemical composition of DNA, DNA structure, DNA replication, Gene action — From DNA to protein, Gene mutations and chromosomes, Human sex determination.

Unit-III Human genome — Nuclear and mitochondrial, Genetic diseases and disorders, Human Genome Project. Manipulation of genetic material — Genetic engineering, Genetic forensics, Genetic testing, Gene therapy, Cloning. Books Recommended:

1. Adkison, L. and Brown, M.D. (2007). Elsevier's Integrated Genetics (Elsevier's Integrated

S.). Mosby (St. Louis).

2. Hartwell, L., Hood, L., Goldberg, M. and Reynolds, A. (2008). Genetics: From Genes to

Genomes. McGraw-Hill Higher Education, 3rd ed.

3. Lewis, R. (2011). Human Genetics — The Basics. Routledge, London.

4. Mange, E.J. and Mange, A.P. (1999). Basic Human Genetics. Sinauer, Sunderland.

5. Passarge, E. (2007). Color Atlas of Genetics. Thieme, 3rd ed.

6. Tamarin, R.H. (2001). Principles of Genetics. WCB/McGraw-Hill, 7th ed.

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