HUMAN GENETICS- I

Paper Code: 
ZOL 323 D
Credits: 
4
Contact Hours: 
60.00
Max. Marks: 
100.00
Objective: 

 

Course objectives:

This course will enable the students to -

  1. To provide a detailed  knowledge of Organization of the human genome; Genes and chromosome structure, function and inheritance
  2. To understand Genetic disorders related to metabolism
  3. Enlighten about Sex Determination
  4. Techniques in the study of chromosomes and applications

 

Course Outcomes (COs):

Course

Learning outcomes

(at course level)

Learning and teaching strategies

Assessment Strategies

Paper Code

Paper Title

ZOL 323D

Human Genetics- I

 

The course Objectives to provide students with a detailed  knowledge of:

CO63: Organization of the human genome; Genes and chromosome structure,
function and inheritance

CO64: Genetic disorders related to metabolism

CO65: Sex Determination

CO66: Techniques in the study of chromosomes and applications

Approach in teaching:

Interactive Lectures, Discussion, Tutorials, Reading assignments, Demonstration, Guest lectures

 

Learning activities for the students:

Self learning assignments, Effective questions, Simulation, Seminar presentation, Giving tasks, Field practical

 

Class test

Semester end examinations,

Viva

 

12.00
Unit I: 
UNIT I

Introduction to Human Genetics

  • History and development of human genetics; Organisation of the human genome; Genes and chromosome structure, function and inheritance;
  • Genetic study in man- Pedigree analysis, Chromosomal analysis
  • Monogenic and polygenic traits;
  • Elementary idea of c-value paradox;

 

12.00
Unit II: 
UNIT II

Introduction to Human Genetics

  • Inborn errors of metabolism: Phenylketonuria;
  • Neurogenetic disorders: Alzheimer’s disease;
  • Muscle genetic disorders: Duchenne Muscular Dystrophy;
  • Genetic disorders of Haematopoitic systems: Sickle cell anemia, Thalassemias&Hemophilias;
  •  Multifactorial disorders: Diabetes mellitus;
  • Mitochondrial syndromes;
  • Monogenic diseases: Cystic fibrosis, TaySach’s Syndrome &Marfan Syndrome;
  • Complex polygenic syndromes: Hyperlipidemia, Atherosclerosis
12.00
Unit III: 
UNIT III

Genetic basis of eye disorders: Colour Blindness, Retinitis pigmentosa, Huntington’s disease

Chromosomal basis of Genetics disorders: Down Syndrome, Patau and Edward Syndrome ,Turner Syndrome ,Klinefelter Syndrome ,Cri-du Chat Syndrome

12.00
Unit IV: 
UNIT IV

Sex Determination

  • Various type of systems :XX,XY,XO and ZW

Special types of chromosome-sex chromosomes, sex chromatin, B-chromosome, polytene and lampbrush chromosomes; Numerical and structural changes in the chromosome.

Sex-linked inheritance- X-linked recessive, dominant; Y–linked; Sex-limited and sex-influenced traits

Dosage compensation;

Repetitive DNA-satellite
DNAs and interspersed repeated DNAs

12.00
Unit V: 
UNIT V
  • Cytogenetics
  • Techniques in the study of chromosomes and applications: Chromosome Banding Techniques G- Banding ,R-Banding
  • C-Banding .Q-Banding ,NOR Staining
  • Karyotyping,
  •  In situ hybridization
Essential Readings: 

Suggested Readings: 

  • Nelson et al, Lehninger’s Principles of Biochemistry, 4th Edition, McMillan, 2006.

  • Alberts et al, Molecular Biology of The Cell, 2nd Edition , Garland 2007.

  • Lewin, Genes IX, 9th Edition , Jones & Bartlett, 2007.

  • Pastemak, An Introduction to Molecular Human Genetics, 2nd Edition, Fritzgarald, 2005..

  • Lewis, Human Genetics, 7th Edition, WCB & McGraw, 2007..

  • Strachen and Read, Human Molecular Genetics, 3rd Edition, Garland Sci. Publishing, 2004.

  • Structural Chemistry and Molecular Biology Alexander Rich and Norman Davidson

  • The Chemical Foundations of Molecular  :James D. Watson

  • Biology of the Gene (2nd ed.)

  • Molecular Biology of the Cell ; Lewis and Watson

  • Genes VI : Benjamin Lewin

  •  Human Cytogenetic Techniques and Clinical Applications HemaPurandare and ArnitChakravarty

  • Progress in Nucleic Acid Research and Molecular Biology Vol. 9 J. N. Davidson

  • Essentials of Human Genetics Bhatnagar,Kothari,Mehta

  • Genes VII :Benjamin Lewin

  •  Molecular Biology of the Gene (4th ed.) Watson

  • Molecular Biology of the Cell :Alberts. Lewis & Watson

  •  An introduction to genetic Engineering Desmond S. T. Nicoll

  • Principles and Practive of Medical Genetics, by Emery, A.E.H and D.L. Rimoin (Eds_ (1990-2nd edition) Churchill Livingstone, Edinburgh.

  • Molecular Basis of Inherited Diseases, (6th Edition-1989) by Scriver, C.R. A.L. Beudit, W.S. Sty abnd D. Valle (Eds0 McGrawHill, New York.

  • Human Genetics by S.D. Gangane (2nd edition-Reprint 2001), B.L Churchill Livingstone Pvt. Ltd., New Delhi.

  • Genetics in Medicine by M.W. Thompson et al, 5th Edition, W.B. Sounders Company, London

  • Genetic basis of common diseases by R. A. King et al, Oxford University Press.

  • Mendelian inheritance in Man by Mc. Kusick V.A. (1998), 12th Edition, John Hopsins University Press, Baltimore.

 

References: 

Suggested Readings:

  •     Nelson et al, Lehninger’s Principles of Biochemistry, 4th Edition, McMillan, 2006.
  •     Alberts et al, Molecular Biology of The Cell, 2nd Edition , Garland 2007.
  •     Lewin, Genes IX, 9th Edition , Jones & Bartlett, 2007.
  •     Pastemak, An Introduction to Molecular Human Genetics, 2nd Edition, Fritzgarald, 2005..
  •     Lewis, Human Genetics, 7th Edition, WCB & McGraw, 2007..
  •     Strachen and Read, Human Molecular Genetics, 3rd Edition, Garland Sci. Publishing, 2004.
  •     Structural Chemistry and Molecular Biology Alexander Rich and Norman Davidson
  •     The Chemical Foundations of Molecular  :James D. Watson Biology of the Gene (2nd ed.)
  •     Molecular Biology of the Cell ; Lewis and Watson
  •     Genes VI : Benjamin Lewin
  •      Human Cytogenetic Techniques and Clinical Applications HemaPurandare and ArnitChakravarty
  •     Progress in Nucleic Acid Research and Molecular Biology Vol. 9 J. N. Davidson
  •     Essentials of Human Genetics Bhatnagar,Kothari,Mehta
  •     Genes VII :Benjamin Lewin
  •      Molecular Biology of the Gene (4th ed.) Watson
  •     Molecular Biology of the Cell :Alberts. Lewis & Watson
  •      An introduction to genetic Engineering Desmond S. T. Nicoll
  •     Principles and Practive of Medical Genetics, by Emery, A.E.H and D.L. Rimoin (Eds_ (1990-2nd edition) Churchill Livingstone, Edinburgh.
  •     Molecular Basis of Inherited Diseases, (6th Edition-1989) by Scriver, C.R. A.L. Beudit, W.S. Sty abnd D. Valle (Eds0 McGrawHill, New York.
  •     Human Genetics by S.D. Gangane (2nd edition-Reprint 2001), B.L Churchill Livingstone Pvt. Ltd., New Delhi.
  •     Genetics in Medicine by M.W. Thompson et al, 5th Edition, W.B. Sounders Company, London
  •     Genetic basis of common diseases by R. A. King et al, Oxford University Press.
  •     Mendelian inheritance in Man by Mc. Kusick V.A. (1998), 12th Edition, John Hopsins University Press, Baltimore.
     
Academic Year: 
2020-2021
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