Semester -III

Explanatory Notes Semester III and IV

The courses offered in Semester III and IV provide the skills of Genetics and recombinant DNA technology with specific reference to human diseases. These skills are taught with repeated emphasis on social and ethical implications of these technologies.

SHS 3.2 Human Molecular Genetics

Course Objectives :

• To present the fundamentals of human genetics with specific reference to health and disease.

Course: Unit I Basic genetics :

• Genetics in health and disease, introduction to the concept of classical and molecular genetics, history of genetics, Applications of recombinant
  DNA technology

• Molecular basis of heredity : DNA as the genetic material, structure and replication with special emphasis on how continuity of the genetic
  
  information is maintained, mutation, mutagens and teratogens, birth defects and congenital abnormalities, DNA repair, repair defects and
  
  cancers, recombination and genetic diversity, establishing diversity of cell functions----transcription and translation.

Course: UNIT II : The human genome, genes and disease :

• Organization of the human genome, number, functional diversity, structural diversity, gene expression, epigenetic mechanisms, multigene families, repetitive DNA

• Genetic basis of human disease : chromosomal abnormalities, prevalence, presentation, chromosome structure, analysis and classification of abnormalities

• Single gene alterations: patterns of inheritance, molecular pathology

• Molecular pathology : presentations

• Diseases with a genetic predisposition

BH3.4 Biotechnology in health and disease

Course Objectives :

• The role of biotechnology in health and disease

• Technical details and

• Implications and ethics

Techniques :

• Techniques and methods of recombinant DNA technology

• Principles and strategies in identifying disease genes

• Mutations and polymorphisms, physical and genetic mapping, human genome project

• Complex diseases, including role of family, twin and adoption studies.

• Role of biotechnology in disease therapeutics, diagnostics, prevention and control

BH 3.5 Practical III

Course Objectives :

• To teach the basic methods of human genetics

Course :

• Isolation of human DNA, and PCR amplification

• Demonstration of Mendelian principles using animal models, human pedigrees and DNA markers

• Karyotyping