Human genetics- II

Paper Code: 
ZOL 423 D
Credits: 
4
Contact Hours: 
60.00
Max. Marks: 
100.00
12.00
Unit I: 
UNIT I

Genetic variation – History, Categories of mutations,  chromosome and gene mutations, Extrachromosomal mutations, Mutator genes, Mobile genetic elements, Induced mutations, Physical and chemical mutagenes,  Molecular basis of spontaneous and induced mutations, DNA repair mechanisms, Reversion, Transposon mutagenesis, In vitro mutagenesis, Environmental mutagenesis
Chromosome rearrangements and Cancer.

Chromosomal aberration :

Numerical : Aneuploidy, Polyploidy 

Structural : Translocation, Duplication, Inversion, Ring Chromosome and Deletion 
 

Others : Mosaic, Chimera [Individual with two cell lines]

12.00
Unit II: 
UNIT II

Immunogenetics -

Genetics of normal immune system. Inherited immunodeficiency, eg. X-linked

agammaglobulinaemia. Major Histocompatibility Complex – Study of Twins (MHC), HLA disease associations. Tranplantation, graft –versus-host disease.
 

Pharmacogenetic – Definition, gene loci influencing drug metabolism and pharmacogenetic interactions.

12.00
Unit III: 
UNIT III

Extranuclear genetics-Role of organellar genome, maternal inheritance and maternal effect.

Stem cell research and cloning
 

Source and isolation of stem cells ,Use of stem cells in human welfare ,Making stem cell lines :Methodology ,Whole body cloning ,Organ Cloning

12.00
Unit IV: 
UNIT IV

Human Genome Project

History, Organization and goals of Human Genome Project

Human Genome Project  : Friend and Foe ,Repetitive DNA in human genome –Alu and SINE repeats Human genome mapping- Physical, Genetic and Microsatellite mapping,
 

 

12.00
Unit V: 
UNIT V

Genetic counseling    

Components of genetic counseling, Legal and ethical considerations

risk assessment and counseling in common Mendelian and multifactor syndromes;

Genetic testing: biochemical & molecular tests: in children, Presymptomatic testing for late onset diseases (predictive medicine); Prenatal and Preimplantation screening  and diagnosis: Indications for prenatal diagnosis, Indications for chromosomal testing,

Noninvasive methods (Ultrasound, Embryoscopy, MRI, etc.); Invasive methods; Prenatal screening for Down’s syndrome (maternal  serum) & Neural tube defect; Pre-implantation genetic diagnosis; Ethical issues in pre-natal screening & diagnosis.

Study of Eugenics

Ø  Negative Eugenics
 

Positive Eugenics 

Essential Readings: 
  • Snustad & Simmons, Principles of Genetics, 4th Edition, Wiley, 2005.
  •  Hartl and Jones, Genetics-Principles and Analysis, 4th Edition, Jones & Bartlett, 1998.
  •  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.
  •  Mange and Mange, Basic Human Genetics, 2nd Edition, Sinauer Assoc, 1999.
  • Vogel and Motulsky, Human Genetics, 3rd Edition, Springer Verlag, 1997.
  •  Strachen and Read, Human Molecular Genetics, 3rd Edition, Garland Sci. Publishing, 2004.
  •  How1ey and Mori, The Human Genome, Academic Press, 1999.
  • Advanced Molecular Biology Twiman
  • Molecular Cloning Part- 1 Manniatis
  • Molecular Cloning Part - 2 Manniatis
  • Molecular Cloning Part - 3 Manniatis
  • 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
  • Recombinant DNA :Witkowski
  • Genes VI :Benjamin Lewin
  •  Principles of gene Manipulation : R. W. Old and Primrose
  •  Progress in Nucleic Acid Research and Molecular Biology Vol. 9 J. N. Davidson
  • Genes VII :Benjamin Lewin

Human Genetics: Concepts and Applications by Lewis R (2001) McGrawHi; Boston.

Academic Year: 
2015-2016
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