Semester 7th
(Human Genetics-NEP)
Department of Human Genetics, Sri Pratap College, Srinagar
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Human Molecular Genetics
The present course entitled "Human Molecular Genetics" provides an in-depth understanding of molecular pathology and its role in human health and disease. It begins with the principles of mutation nomenclature, exploring how loss-of-function and gain-of-function mutations contribute to the onset of genetic disorders, and traces the pathway from gene to disease and disease to gene.
The second unit focuses on the identification of disease-associated genes, highlighting the role of genomic instability in the human genome, the candidate gene approach, and advanced molecular techniques used to detect sequence variations. It also examines the impact of repeated DNA sequences in causing pathogenic conditions such as Huntington’s disease.
The final unit explores the broader field of genome science, covering the Human Genome Project, the 1000 Genomes Project, and the role of GWAS in linking genetic variation to disease, and concludes with epigenomics, focusing on DNA methylation and histone modification.
Together, the course integrates molecular insights with genomic approaches to understand the genetic basis of human diseases.
Unit-wise Learning Modules
This course consists of three theory units and one practical unit (Course Credit: 3+1). You may access the complete course details through the link provided below.
Unit 4
Unit 4
Laboratory Component
Laboratory Component
Practical laboratory exercises to reinforce theoretical concepts
i. To carry out the extraction of DNA.
ii. To carry out the amplification of DNA by Polymerase Chain Reaction.
iii. Electrophoresis.
Syllabus 7th Semester
Unit-I: Molecular Pathology (15 HOURS)
i. Introduction to Molecular Pathology
ii. Rule of nomenclature of mutations
iii. Loss of Function and Gain of Function Mutation
iv. Molecular Pathology: From Gene to Disease and From Disease to Gene
Unit-II: Identification of disease associated genes (15 HOURS)
i. Genomic Instability in the Human genome
ii. Candidate Gene Approaches
iii. Molecular Techniques for Detecting Specific Sequence Changes
iv. Pathogenicity associated with Repeated Sequences (e.g., Huntington's Disease)
Unit-III: Genome Sequence and Function (15 HOURS)
i. Human Genome Project (Goals, methodology, key findings, & Significance)
ii. 1000 Genome Project : A Human genome Database
iii. Genome-Wide Association Studies (GWAS) Database
iv. Epigenomics: Epigenetic regulation (DNA methylation, histone modification)
Lab Work/ Practical (1 CREDIT: 30 HOURS)
i. To carry out the extraction of DNA.
ii. To carry out the amplification of DNA by Polymerase Chain Reaction.
iii. Electrophoresis.
Books recommended:
1. Human Molecular Genetics by Tom Strachan and Andrew Read
2. Genomes-4 (4th Edition) by T.A. Brown
3. Molecular Biology of the Cell, 4th edition Bruce Alberts, Alexander Johnson, Julian Lewis, Martin Raff, Keith Roberts, and Peter Walter.
4. Molecular Pathology: The Molecular Basis of Human Disease by William B. Coleman and Gregory J. Tsongalis
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