Human and population genetics
Dr David Smyth
12 points * 10 hours per week * Second semester * Clayton * Prerequisites: GEN2022
Objectives On the completion of this subject students will have developed a full perspective of modern human and medical genetics; be able to review recent findings concerning the nature of human genetic disease; be familiar with ethical issues and practical applications of human genetics in areas such as genetic counselling and forensic science; have obtained an overview of genetic aspects of population structure; appreciate the integration of modern molecular findings into our concept of evolution; have developed skills in the presentation of data and scientific ideas verbally, in writing, and where possible, through the use of computer-assisted learning.
Synopsis This subject deals with two areas of modern genetics in depth. In one section human genetics is covered, with an emphasis on gene mapping, DNA profiling, the molecular basis of genetic disease and development, neurobiology and immunogenetics. Applications to medical genetics are emphasised, including genetic screening, genetic counselling, genetics of human behaviour and ethical issues. In the second section, topics in population and quantitative genetics are discussed in detail including population structure, molecular evolution, mitochondrial DNA variation, pesticide resistance in populations and polygenic control of human disease. Practicals expose students to a range of procedures including preparation and analysis of human chromosomes, detection of gene transcripts in mammalian tissues using modern molecular techniques, aspects of genetic counselling, and measurement and analysis of genetic variation in natural populations.
Assessment Written (2500 words): 15% * Examinations (3 hours): 50% * Practical work: 35%
Prescribed texts
Conner J M and Ferguson-Smith M A Essential medical genetics 4th edn, Blackwell, 1993
Recommended texts
Alberts B and others Molecular biology of the cell 3rd edn, Garland, 1994
Griffiths A J F and others An introduction to genetic analysis 5th edn, Freeman, 1993
Hartl D L and Clark A G Principles of population genetics 2nd edn, Sinauer, 1988
Jorde L B and others Medical genetics Mosby, 1995
Li W-H and Graur D Fundamentals of molecular evolution Sinauer, 1991
Lodish H and others Molecular cell biology Scientific American, 1995
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