Human Genetics- I

Paper Code: 
ZOL 323 D
Credits: 
4
Contact Hours: 
60.00
Max. Marks: 
100.00
Objective: 

Course Outcomes (COs):

Course

Learning outcomes

(at course level)

Learning and teaching strategies

Assessment Strategies

Paper Code

Paper Title

ZOL 323D

Human Genetics- I

 

Students will:

CO87: Analyse Organization of the human genome; Genes and chromosome structure,
function and inheritance

CO88: Investigate Genetic disorders related to metabolism

CO89: Examine Sex Determination

CO90: Explore Techniques in the study of chromosomes and applications

CO91: Learn about Inborn errors of metabolism

Approach in teaching:

Interactive Lectures, Discussion, Tutorials, Reading assignments, Demonstration, Guest lectures

Learning activities for the students:

Self-learning assignments, Effective questions, Simulation, Seminar presentation, Giving tasks, Field practical

 

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
Academic Year: 
2023-2024
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