HUMAN GENETICS- I

Paper Code: 
24ZOL323D
Credits: 
4
Contact Hours: 
4.00
Max. Marks: 
100.00
Objective: 
Course objectives:
This course will enable the students to -
1. Focus on Organization of the human genome; Genes and chromosome structure, function and inheritance
2. Detail about Genetic disorders related to metabolism
3. Enlighten about Sex Determination
4. Confront techniques used in the study of chromosomes and applications
 
Course Outcomes: 

Course

Learning outcomes (at course level)

Learning and teaching strategies

Assessment Strategies

Course Code

Course Title

24ZOL

323D

Human Genetics- I

(Theory)

CO103. Analyze

Organization of the

human genome; Genes  and

chromosome

structure,

function and inheritance

CO104. Investigate

Genetic disorders related to

metabolism

CO105. Learn about genetic

basis of eye disorders and

chromosomal     basis                          of genetic disorders

CO106. Examine Sex

Determination

CO107. Explore

Techniques in the study  of

chromosomes and

applications

CO108.               Contribute

effectively in course-specific

interaction

Approach in

teaching:

Interactive Lectures,

Reading assignments,

Guest lectures

Learning      activities

for the students:

Self-learning

assignments,

Effective       questions,

Seminar presentation,

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
● Inborn errors of metabolism: Phenylketonuria;
● Neurogenetic disorders: Alzheimer’s disease;
● Muscle genetic disorders: Duchenne Muscular Dystrophy; Genetic disorders of Hematopoietic systems: Sickle cell anemia, Thalassemias, Hemophilias;
● Multifactorial disorders: Diabetes mellitus; Mitochondrial syndromes;
● Monogenic diseases: Cystic fibrosis, TaySach’s Syndrome &MarfanSyndrome;
● 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 disordersDown 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: 
• 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 , Garland 2007.
• 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, Sinauer Assoc, 1999.
• Vogel and Motulsky, Human Genetics, 3rd Edition, Springer Verlag, 1997.
• Strachen and Read, Human Molecular Genetics, 3rd Edition, Garland Sci. Publishing, 2004.
• How1ey and Mori, The Human Genome, Academic Press, 1999.
• Advanced Molecular Biology Twiman
• Molecular Cloning Part- 1 Manniatis
• Molecular Cloning Part - 2 Manniatis
• Molecular Cloning Part - 3 Manniatis
 
References: 
SUGGESTED READINGS
• 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
• Recombinant DNA :Witkowski
 
• Genes VI :Benjamin Lewin
• Principles of gene Manipulation : R. W. Old and Primrose
• Progress in Nucleic Acid Research and Molecular Biology Vol. 9 J. N. Davidson
• Genes VII :Benjamin Lewin
• Human Genetics: Concepts and Applications by Lewis R (2001) McGrawHi; Boston.
 
e RESOURCES:
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JOURNALS:
 
Academic Year: 
2024-2025
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