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Course Detail

Course Name Genetics: Principle and Analysis
Course Code 25CLG511
Program M. Sc. Clinical Genomics
Semester 2
Credits 3
Campus Kochi

Syllabus

Unit-1

Lectures 3

Overview of genetics: Relationship between genes and traits, Fields and science of genetics; Patterns of inheritance: Mendelian inheritance, Law of segregation, Law of independent assortment, Studying inheritance patterns in humans;

Unit-2

Lectures 8
Extensions of Mendelian inheritance: Overview of simple inheritance patterns, Dominant and recessive alleles, Environmental effects on gene expression, Incomplete dominance, overdominance and codominance, X-linked inheritance, Sex-influenced and sex-limited inheritance, Lethal alleles, Pleiotropy, Gene interactions, Non-Mendelian inheritance: Maternal effect, Epigenetic inheritance-dosage compensation and genomic imprinting, Extranuclear inheritance;

Unit-3

Lectures 9
Chromosomes of eukaryotes: Chromosome organization and molecular structure: General features of chromosomes, Organization sites along eukaryotic chromosomes; Chromosome transmission during cell division and sexual reproduction: Chromosomes during cell divisions – mitosis and meiosis, The chromosome theory of inheritance and sex chromosomes; Genetic linkage and mapping in eukaryotes: Overview of linkage, Relationship between linkage and crossing over, Genetic mapping in animals, Mitotic recombination; Variation in chromosome structure and number: Changes in chromosome structure – an overview, Deletions and duplications, Inversions and translocations, Changes in chromosome number – an overview, Variation in number of chromosomes within a set and in the number of sets of chromosomes;

Unit-4

Lectures 9
Gene regulation in eukaryotes: Epigenetics: Epigenetics and development, Paramutation, Epigenetics and environmental agents, Role of epigenetics in cancer; Noncoding RNAs: Overview, Effects of noncoding RNAs on chromatin structure, transcription, translation, mRNA degradation and RNA modifications, Noncoding RNAs in protein targeting and genome defense, Role of noncoding RNAs in human diseases;

Unit-5

Lectures 8
Medical, immuno and developmental genetics: Medical genetics: Inheritance patterns of genetic diseases, Genetic basis of cancer, Personalized medicine; Immunogenetics: Genetics of V(D)J recombination and antibody diversity; Developmental genetics: Genetics of vertebrate development, differential gene expression and its role in development;

Unit-6

Lectures 8
Population and evolutionary genetics: Genes in populations and the Hardy-Weinberg equation, Overview of microevolution, Natural selection, Genetic drift, Migration, Nonrandom mating, Sources of new genetic variation; Complex and quantitative traits: Overview of complex and quantitative traits, Polygenic inheritance, Heritability, Selective breeding; Evolutionary genetics: Origin of species, Phylogenetic trees, Molecular evolution.

Introduction

Pre-requisites: Basic understanding of biology and genetics

Total number of classes: 45

Objectives and Outcomes

Course Outcome

CO1 To understand patterns of inheritance and laws of heredity at molecular levels 

CO2 To understand about chromosomes and their transmission during cell divisions, genetic linkage and mapping in Eukaryotes, variations in chromosome structure and number, and chromosome organization and molecular structure

CO3 To comprehend various modes of epigenetic regulation on gene expression in

Eukaryotes and roles of noncoding RNA in gene regulation

CO4 To learn about genetic principles underlying medical, immune and developmental aspects

CO5 To gather knowledge of complex and quantitative traits, polygenic

Inheritance, population genetics, phylogenic trees and molecular evolution

Program Outcomes (PO) (As given by NBA and ABET)

PO1: Bioscience Knowledge

PO2: Problem Analysis

PO3: Design/Development of Solutions

PO4: Conduct Investigations of complex problems

PO5: Modern tools usage

PO6: Bioscientist and Society

PO7: Environment and Sustainability

PO8: Ethics

PO9: Individual & Team work

PO10: Communication

PO11: Project management & Finance

PO12: Lifelong learning

CO–PO Mapping Table:

COs

PO1

PO2

PO3

PO4

PO5

PO6

PO7

PO8

PO9

PO10

PO11

PO12

CO1

3

2

–

2

–

–

–

–

–

–

–

2

CO2

3

3

–

3

2

–

–

–

–

–

–

2

CO3

3

2

–

2

2

–

–

–

–

–

–

2

CO4

3

3

–

3

–

2

–

–

–

–

–

2

CO5

3

3

–

3

2

–

1

–

–

–

–

2

0 – No affinity; 1 – low affinity; 2 – Medium affinity; 3 – High affinity

Program Specific Outcomes (PSO):

PSO1. Apply fundamental molecular biology principles to interpret clinical genomic data.
PSO2. Use molecular techniques (e.g., PCR, RT-PCR, sequencing) to detect genetic mutations and biomarkers.
PSO3. Analyze genotype-phenotype correlations in inherited and acquired disorders.
PSO4. Identify pathogenic variants from NGS data and interpret their clinical relevance.
PSO5. Correlate molecular pathways with disease mechanisms and therapeutic targets.
PSO6. Develop and validate diagnostic assays based on molecular biology principles.
PSO7. Utilize molecular biology to support pharmacogenomic profiling and therapy optimization.
PSO8. Integrate multi-omic data (genomic, transcriptomic, epigenomic) for personalized health solutions.
PSO9. Apply molecular knowledge to cancer genomics, infectious diseases, and rare genetic disorders.
PSO10. Translate molecular discoveries into clinical interventions through evidence-based practice.

 CO–PSO Mapping Table:

COs

PSO1

PSO2

PSO3

PSO4

PSO5

PSO6

PSO7

PSO8

PSO9

PSO10

CO1

3

–

3

–

–

–

–

–

–

–

CO2

3

–

3

–

–

–

–

–

–

–

CO3

2

–

–

–

3

–

–

2

–

–

CO4

3

2

3

–

3

–

2

–

2

2

CO5

3

–

3

–

3

–

–

–

–

2

Evaluation Pattern

Evaluation Pattern: 50+50 = 100

Internal Assessment – 50%
Periodical 1 Exam 20%
Periodical 2 Exam 20%
Continuous Assessment Assignment/Test/Quiz 10%
  50%
End Semester Examination- 50%
Theory Exam 50%  
  50%
Total 100%

Textbooks/ Reference

Textbooks:

  • Genetics: Analysis and Principles, 6th edition, Robert Brooker, McGraw-Hill
  • Professional publishers, 2017.

Reference

  • Principles of genetics, 8th edition, Gardner, Simmons, Snustad, Wiley, 2006.

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