BT3012 Human Genetics Syllabus:

BT3012 Human Genetics Syllabus – Anna University Regulation 2021

OBJECTIVES:

 To discuss the patterns of inheritance and its relevance in disease and therapy
 To describe various genetic laws, learn the chromosome structure function and understand methodologies for cytogenetic applications.

UNIT I INTRODUCTION

History of genetics – Mendel’s principles and experiments, segregation, multiple alleles – Independent Assortments, Genotypic interactions, epistasis and Sex chromosomes, Sex determination, Dosage compensation, sex linkage and pedigree analysis

UNIT II COMPLEX TRAITS

Approaches to analysis of complex traits- ‘Nature vs nurture’, role of family and shared environment, monozygotic and dizygotic twins and adoption studies – Polygenic inheritance of continuous (quantitative) traits and discontinuous {dichotomous) traits – Genetic susceptibility in complex traits – Estimation of genetic components of multifactorial traits: emperic risk, heritability, coefficient of relationship, application of Baye’s theorem.

UNIT III HUMAN CYTOGENETICS

Origins and developments in the study of human cytogenetics – Chromosome banding – Human chromosomal pathologies: Numerical and Structural aberrations and their common syndromes – Human karyotype: banding patterns, ideogram, nomenclature of banding – Nomenclature of aberrant karyotypes.

UNIT IV APPLIED GENETICS

Genetic linkage and gene mapping – Genetic polymorphism, RFLP, SNP, STRP – Physical mapping of the human genome – Transcriptional mapping – Molecular techniques in human chromosome analysis (FISH, GISH, CGH, SKY).

UNIT V CLINICAL GENETICS

Genetic basis of syndromes and disorders – Monogenic diseases: Cystic fibrosis, Marfan syndrome – Inborn errors of metabolism: Phenylketonuria, Mucopolysaccharidosis, Galactosemia – Syndromes due to triplet nucleotide expansion: Muscle genetic disorders, Sickle cell anemia, Thalassemias, Colour Blindness, Retinitis pigmentosa.

TOTAL: 45 PERIODS

COURSE OUTCOMES

Upon completion of the course, students will be able to
 Understand the concept of Mendelian and non-Mendelian genetics.
 Know the concepts of complex traits inheritance and mechanism of sex determination.
 Discuss clearly about the chromosomal pathologies.
 Describe the principles behind DNA fingerprinting methodologies using molecular markers RFLP, RAPD, STRP, and SNP’s.
 Applying the genetic technologies knowledge in industries related to pharmaceuticals, biotechnology, and diagnostic clinics.
 To bring awareness to human society on various genetic disorders, its inheritance patterns and to develop the methods, and techniques of fighting against the diseases.

TEXT BOOKS:

1. Michael Goldberg, Janice Fischer, Leroy Hood and Leland Hartwell, “Genetics: From Genes to Genomes”, 7th Edition. McGraw Hill Education, 2020.
2. Tom Strachan & Andrew Read, “Human molecular genetics” 4th Edition, Taylor & Francis Group, Garland Science, 2011.
3. Anthony Griffiths; John Doebley; Catherine Peichel; David A. Wassarman, “Introduction to Genetic Analysis”, 12th Edition. Macmillan Learning, 2020.

REFERENCES:

1. Benjamin A. Pierce, “Genetics: A Conceptual Approach”, 7th Edition, Macmillan Learning, 2020.
2. William S Klug, Michael Cummings, Charlotte A. Spencer, Michael A Palladino & Darrell Killian, “Concepts of Genetics”, 12th Edition, Pearson, 2019.
3. D. Peter Snustad, Michael J. Simmons, “Principles of Genetics”, 7th Edition, published by Wiley, 2015.