HUMAN GENETICS II

Paper Code: 
25ZOL423D
Credits: 
4
Contact Hours: 
60.00
Max. Marks: 
100.00
Objective: 
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

25ZOL

423 D

HUMAN GENETICS II

(Theory)

CO175. Analyze genetic

variation,                  chromosome

rearrangement                               and

aberrations.

CO176. Develop an

understanding    of                         the

Immunogenetics

CO177.    Analyze                and

understand  extranuclear

genetics, stem cells and

cloning

CO178.    Evaluate                and

implement Human

Genome    Project,                 and

Genetic mapping

CO179.     List                 genetic

counseling,                        Genomic

testing and eugenics

CO180.                      Contribute

effectively    in                    course-

specific interaction

Approach in

teaching:

Interactive Lectures,

Discussion,

Tutorials, Reading

assignments,

Demonstration,

Team teaching

Learning activities

for the students:

Self-learning

assignments,

Effective questions,

Simulation, Seminar

presentation, Giving

tasks, Field practical

Class test

Semester end

examinations,

Quiz

Assignments,

Presentations

Surprise test

Open book

test

 

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.
● Stem cell research and cloning
● 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. 
SUGGESTED READINGS:
● How1ey and Mori, The Human Genome, Academic Press,1999.
● Advanced Molecular Biology Twiman
● Molecular Cloning Part- 1 Maniatis
 
References: 
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: 
2025-2026
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