Coming soon
HUMAN GENETICS- I
OBJECTIVES- The course Objectives to provide students with a detailed knowledge of:
- Organization of the human genome; Genes and chromosome structure,
function and inheritance - Genetic disorders related to metabolism
- Sex Determination
- Techniques in the study of chromosomes and applications
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;
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, TaySach’s Syndrome &Marfan Syndrome;
Complex polygenic syndromes: Hyperlipidemia, Atherosclerosis
Genetic basis of eye disorders: Colour Blindness, Retinitis pigmentosa, Huntington’s disease
Chromosomal basis of Genetics disordersDown Syndrome
Patau and Edward Syndrome ,Turner Syndrome ,Klinefelter Syndrome ,Cri-du Chat Syndrome
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
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
- 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 HemaPurandare and ArnitChakravarty
- 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.
