School of Biological and Chemical Sciences

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Human Genetics and Genomics


Credits: 15.0
Semester: SEM1

  • Semester 1: Tuesday 11 am - 1 pm
  • Semester 1: Weeks 2, 4, 8, 10, 12: Tuesday 2 pm - 4 pm
    IT Class
  • Semester 1: Weeks 6: Tuesday 2 pm - 3 pm
  • Semester 1: Weeks 6: Tuesday 3 pm - 5 pm

Contact: Dr Jayne Dennis
Overlap: None
Prerequisite: any 2nd year genetics module

This module will include the history and rationale of eukaryote genome projects and then progressively explain why the human genome is full of junk and has only 30,000 genes. This will cover the origin and evolution of repetitive DNA, such as satellite DNA and transposable elements, and its contribution to genome size and dynamics, overlapping into a discussion of the origin and survival of genes within this ever-changing environment. The latter will focus on the roles of epistasis, gene clusters, paralogous gene families and gene selection based on refinement of function and dosage requirement. Bioinformatics tools will be used to illustrate, or elaborate, each of the topics presented and in so doing introduce gene prediction and gene mining.This module will introduce strategies and methods for identifying the molecular genetic basis and biochemical consequences of inherited human disorders, especially those related to metabolic deficiencies. The module considers the genetic basis of human disease and other important traits. It will show how polymorphism and substitution are interpreted using the Neutral and Nearly Neutral theories. Topics will be drawn together in the interpretation of molecular data to obtain evidence of the action of natural selection.

Connected course(s): UDF DATA
Assessment: 80.0% Examination, 20.0% Coursework
Level: 6

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