Human Genetics- I

Paper Code: 
ZOL 323 D
Contact Hours: 
Max. Marks: 
Unit I: 
Unit 1

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;

Unit II: 
Unit II

Inborn errors of metabolism: Phenylketonuria;

 Neurogenetic disorders: Alzheimer’s disease;

Muscle genetic disorders: Duchenne Muscular Dystrophy;

Genetic disorders of Haematopoitic systems: Sickle cell anemia, Thalassemias & Hemophilias;

 Multifactorial disorders: Diabetes mellitus;

Mitochondrial syndromes;

Monogenic diseases: Cystic fibrosis, Tay Sach’s Syndrome & Marfan Syndrome;

Complex polygenic syndromes: Hyperlipidemia, Atherosclerosis

Unit III: 
Unit III

Genetic basis of eye disorders: Colour Blindness, Retinitis pigmentosa, Huntington’s disease Chromosomal basis of Genetics disorders Down Syndrome Patau and Edward Syndrome ,Turner Syndrome ,Klinefelter Syndrome ,Cri-du Chat Syndrome

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

Unit V: 
Unit V


Techniques in the study of chromosomes and applications: Chromosome Banding Techniques G- Banding ,R-Banding C-Banding .Q-Banding ,NOR Staining


In situ hybridization

Essential Readings: 
  1. Snustad & Simmons, Principles of Genetics, 4th Edition, Wiley, 2005.
  2. Hartl and Jones, Genetics-Principles and Analysis, 4th Edition, Jones & Bartlett, 1998.
  3. Nelson et al, Lehninger’s Principles of Biochemistry, 4th Edition, McMillan, 2006.
  4. Alberts et al, Molecular Biology of The Cell, 2nd Edition , Garland 2007.
  5. Lewin, Genes IX, 9th Edition , Jones & Bartlett, 2007.
  6. Pastemak, An Introduction to Molecular Human Genetics, 2nd Edition, Fritzgarald, 2005.
  7.  Mange and Mange, Basic Human Genetics, 2nd Edition, Sinauer  Assoc, 1999.
  8. Lewis, Human Genetics, 7th Edition, WCB & McGraw, 2007.
  9. Vogel and Motulsky, Human Genetics, 3rd Edition, Springer Verlag, 1997.
  10. Strachen and Read, Human Molecular Genetics, 3rd Edition, Garland Sci. Publishing, 2004.
  11. Maroni, Molecular and Genetic Analysis of Human Traits, 1st Edition, Wiley-Blackwell, 2001.
  12. Structural Chemistry and Molecular Biology Alexander Rich andNorman Davidson
  13. The Chemical Foundations of Molecular Biology Rebort
  14. The Chemical Foundations of Molecular James D. Watson
  15. Biology of the Gene (2nd ed.)
  16. Molecular Biology of the Cell Lewis and Watson
  17. Genes VI Benjamin Lewin
  18.  Human Cytogenetic Techniques and
  19. Clinical Applications Hema Purandare and Arnit Chakravarty
  20. Progress in Nucleic Acid Research and Molecular Biology Vol. 9 J. N. Davidson
  21. Essentials of Human Genetics Bhatnagar,Kothari,Mehta
  22. Genes VII Benjamin Lewin
  23.  Molecular Biology of the Gene (4th ed.) Watson
  24. Molecular Biology of the Cell Alberts. Lewis & Watson
  25.  Genetics - Principles, concepts and implications Chopra Nasim
  26. Genetics - Principles, concepts and implications H.K Jain
  27.  An introduction to genetic Engineering Desmond S. T. Nicoll
  28. Genetics - Principles, concepts and implications Chopra Nasim
  29.  Genetics - Principles, concepts and implications H.K Jain
  30. Genetics P.K. Gupta
  31. Principles and Practive of Medical Genetics, by Emery, A.E.H and D.L. Rimoin (Eds_ (1990-2nd edition) Churchill Livingstone, Edinburgh.
  32. Molecular Basis of Inherited Diseases, (6th Edition-1989) by Scriver, C.R. A.L. Beudit, W.S. Sty abnd D. Valle (Eds0 McGrawHill, New York.
  33. Human Genetics by S.D. Gangane (2nd edition-Reprint 2001), B.L Churchill Livingstone Pvt. Ltd., New Delhi.
  34. Genetics in Medicine by M.W. Thompson et al, 5th Edition, W.B. Sounders Company, London
  35. Genetic basis of common diseases by R. A. King et al, Oxford University Press.
  36. Mendelian inheritance in Man by Mc. Kusick V.A. (1998), 12th Edition, John Hopsins University Press, Baltimore.
Academic Year: