HUMAN GENETICS II

Paper Code: 
24ZOL423D
Credits: 
4
Contact Hours: 
60.00
Max. Marks: 
100.00
Objective: 
Course Objectives:
This course will enable the students to –
1. Develop an understanding about organization of the human genome; Genes and chromosome structure, function and inheritance, Genetic variation, Immunogenetics, Extranuclear genetics, Human Genome Project, Genetic counseling
 
Course Outcomes: 

Course

Learning outcomes (At course level)

Learning and teaching strategies

Assessmen t Strategies

Course Code

Course Title

 

HUMAN GENETICS II

(Theory)

 

CO175. Analyze genetic

Approach in

Class test

 

variation,    chromosome

teaching:

Semester end

 

rearrangement          and

Interactive Lectures,

examinations,

 

aberrations.

Discussion,

Quiz

 

CO176. Develop an

Tutorials, Reading

Assignments,

 

understanding   of    the

assignments,

Presentations

 

Immunogenetics

Demonstration,

Surprise test

 

CO177.   Analyze   and

Team teaching

Open book

 

understand  extranuclear

Learning activities

test

 

genetics, stem cells and

for the students:

 

24ZOL

cloning

Self-learning

 

423 D

CO178.   Evaluate   and

assignments,

 

 

implement Human

Effective questions,

 

 

Genome   Project,    and

Simulation, Seminar

 

 

Genetic mapping

presentation, Giving

 

 

CO179.    List     genetic

tasks, Field practical

 

 

counseling,      Genomic

 

 

 

testing and eugenics

 

 

 

CO180.         Contribute

 

 

 

effectively   in    course-

 

 

 

specific interaction

 

 

 

12.00
Unit I: 
UNIT I
  • Genetic variation – History, Categories of mutations, chromosome and gene mutations, Extrachromosomal mutations, Mutator genes, Mobile genetic elements, Induced mutations, Physical and chemical mutagens, Molecular basis of spontaneous and induced mutations, DNA repair mechanisms, Reversion, Transposon mutagenesis, In vitro mutagenesis, Environmental mutagenesis
  • Chromosome rearrangements and Cancer. Chromosomal aberration :
  • Numerical : Aneuploidy, Polyploidy

 

  • Structural : Translocation, Duplication, Inversion, Ring Chromosome and Deletion
  • Others : Mosaic, Chimera [Individual with two cell lines]

 

12.00
Unit II: 
Unit II
  • Immunogenetics -
  • Genetics of normal immune system. Inherited immunodeficiency, eg. X-linked
  • Agammaglobulinaemia. Major Histocompatibility Complex – Study of Twins (MHC), HLA disease associations.
  • Transplantation, graft –versus-host disease. Pharmacogenetic – Definition, gene loci influencing drug metabolism and pharmacogenetic interactions.

 

12.00
Unit III: 
Unit III

●  Extranuclear genetics-Role of organellar genome, maternal inheritance and maternal effect.

●Stemcellresearchand

●  Source and isolation of stem cells ,Use of stem cells in human welfare ,Making stem cell lines :Methodology

Whole body cloning ,Organ Cloning

12.00
Unit IV: 
Unit IV
  • Human Genome Project
  • History, Organization and goals of Human Genome Project Human Genome Project : Friend and Foe ,Repetitive DNA in human genome –Alu and SINE repeats Human genome mapping- Physical, Genetic and Microsatellite mapping,

 

 

12.00
Unit V: 
Unit V
  • Genetic counseling
  • Components of genetic counseling, Legal and ethical considerations
  • risk assessment and counseling in common Mendelian and multifactor syndromes;
  • Genetic testing: biochemical & molecular tests: in children, Presymptomatic testing for late onset diseases (predictive medicine); Prenatal and Preimplantation screening and diagnosis: Indications for prenatal diagnosis, Indications for chromosomal testing,
  • Noninvasive methods (Ultrasound, Embryoscopy, MRI, etc.); Invasive methods; Prenatal screening for Down’s syndrome (maternal serum) & Neural tube defect; Pre implantation genetic diagnosis; Ethical issues in prenatal screening & diagnosis.
  • Study of Eugenics
  • Negative Eugenics
  • Positive Eugenics

 

Essential Readings: 
  • Snustad& Simmons, Principles of Genetics, 4th Edition, Wiley,2005.
  • Hartl and Jones, Genetics-Principles and Analysis, 4th Edition, Jones &Bartlett,1998.
  • Alberts et al, Molecular Biology of The Cell, 2nd Edition , Garland2007.
  • Lewin, Genes IX, 9th Edition , Jones & Bartlett,2007.
  • Pastemak, An Introduction to Molecular Human Genetics, 2nd Edition, Fritzgarald,2005.
  • Mange and Mange, Basic Human Genetics, 2nd Edition, SinauerAssoc,1999.
  • Vogel and Motulsky, Human Genetics, 3rd Edition, Springer Verlag,1997.
  • Strachen and Read, Human Molecular Genetics, 3rd Edition, Garland Sci.Publishing, 2004.

 

References: 

 

SUGGESTED READINGS:
How1ey and Mori, The Human Genome, Academic Press,1999.
Advanced Molecular Biology Twiman
Molecular Cloning Part- 1 Maniatis
 
E-RESOURCES:
chrome- extension://efaidnbmnnnibpcajpcglclefindmkaj/https://www.researchgate.net/profile/Worku
-Mhiret- 2/publication/339127895_Laboratory_Manual_for_Principles_of_Genetics/links/5e3ee1d82 99bf1cdb918e9da/Laboratory-Manual-for-Principles-of-Genetics.pdf
 
JOURNALS:
 

 

Academic Year: