Human Genetics- I

Paper Code: 
ZOL 323 D
Credits: 
Human Genetics- I
Contact Hours: 
60.00
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 (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: 
2022-2023
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