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]
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
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
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,
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
Negative Eugenics
Positive Eugenics