Human genetics- I

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

12.00
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

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

 

Essential Readings: 
  • Nelson et al, Lehninger’s Principles of Biochemistry, 4th Edition, McMillan, 2006.
  • Alberts et al, Molecular Biology of The Cell, 2nd Edition , Garland 2007.
  • Lewin, Genes IX, 9th Edition , Jones & Bartlett, 2007.
  • Pastemak, An Introduction to Molecular Human Genetics, 2nd Edition, Fritzgarald, 2005..
  • Lewis, Human Genetics, 7th Edition, WCB & McGraw, 2007..
  • Strachen and Read, Human Molecular Genetics, 3rd Edition, Garland Sci. Publishing, 2004.
  • Structural Chemistry and Molecular Biology Alexander Rich and Norman Davidson
  • The Chemical Foundations of Molecular  :James D. Watson
  • Biology of the Gene (2nd ed.)
  • Molecular Biology of the Cell ; Lewis and Watson
  • Genes VI : Benjamin Lewin
  •  Human Cytogenetic Techniques and Clinical Applications Hema Purandare and Arnit Chakravarty
  • Progress in Nucleic Acid Research and Molecular Biology Vol. 9 J. N. Davidson
  • Essentials of Human Genetics Bhatnagar,Kothari,Mehta
  • Genes VII :Benjamin Lewin
  •  Molecular Biology of the Gene (4th ed.) Watson
  • Molecular Biology of the Cell :  Alberts. Lewis & Watson
  •  An introduction to genetic Engineering Desmond S. T. Nicoll
  • Principles and Practive of Medical Genetics, by Emery, A.E.H and D.L. Rimoin (Eds_ (1990-2nd edition) Churchill Livingstone, Edinburgh.
  • 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.
  • Human Genetics by S.D. Gangane (2nd edition-Reprint 2001), B.L Churchill Livingstone Pvt. Ltd., New Delhi.
  • Genetics in Medicine by M.W. Thompson et al, 5th Edition, W.B. Sounders Company, London
  • Genetic basis of common diseases by R. A. King et al, Oxford University Press.

Mendelian inheritance in Man by Mc. Kusick V.A. (1998), 12th Edition, John Hopsins University Press, Baltimore.

Academic Year: 
2015-2016
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