HUMAN GENETICS I (Practical)

Paper Code: 
24ZOL324D
Credits: 
4
Contact Hours: 
60.00
Max. Marks: 
100.00
Objective: 
Course objectives
This course will enable the students to –
1. Hands on experience of Chromosomal preparation and karyotyping
2. Learn to Culture Drosophila and identification of normal and mutant flies
3. Experimental knowledge of DNA isolation, purification and quantification
4. Describe about restriction endonucleases and electrophoresis
 
Course Outcomes: 

Course

Learning outcomes (at course level)

Learning and teaching strategies

Assessment Strategies

Course Code

Course Title

24ZOL

324 D

Human

genetics I

(Practical)

CO133. Perform

Chromosomal

preparation and

karyotyping

CO134.  Learn  to  Culture

Drosophila in laboratory and

identify normal and  mutant

flies

CO135. Isolate, purify  and

quantify    DNA,     use     of

Restriction

endonucleases and

Electrophoresis.

CO136.     Explore     EcoRI

digestion of total DNA.

CO137. Reflect on personal

learning    experiences   and

experimental                              outcomes

during          viva          voce

assessments.

CO138.                            Contribute

effectively in course-specific

interaction

Approach in

teaching:

Practical,

Demonstration

Learning  activities

for the students:

Practical   knowledge,

Effective questions

Class test

Semester      end

examinations

Viva voce

 

CONTENTS
● Identification of normal and mutant flies ( Drosophila melanogaster) Preparation of Drosophila polytene Chromosomes (temporary and permanent preparations)
● Drosophila genetic crosses
● Chromosome preparation from mouse bone marrow and human blood lymphocytes G banding
● Karyotyping
● Identification of inactivated X chromosome as Barr body and drumstick
● Genomic DNA isolation and purification from the nuclei and quantitation of DNA
 
by spectrophotometer.
● EcoRI digestion of total DNA and separation of fragments by agarose gel Electrophoresis
 
Essential 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 Hema Purandare and Arnit Chakravarty
• Progress in Nucleic Acid Research and Molecular Biology Vol. 9 J. N. Davidson
• Essentials of Human Genetics Bhatnagar, Kothari, Mehta
 
References: 
SUGGESTED READINGS
• 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.
 
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: 
2024-2025
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