BMS240 Human Molecular Genetics (8)

This subject will examine the broad field of genetics. It will cover standard Mendelian genetics, our modern understanding of molecular genetics, and the central dogma (DNA is transcribed to mRNA which is translated to protein). Modern disciplines of applied molecular technology (including proteomics and genomics), the genetic basis of molecular diseases, epigenetics and the genetics of cancer will also be examined.


Session 1 (30)
On Campus
Orange Campus
Wagga Wagga Campus
Wagga Wagga Campus
Term 2 (15)
Wagga Wagga Campus

Continuing students should consult the SAL for current offering details: BMS240. Where differences exist between the Handbook and the SAL, the SAL should be taken as containing the correct subject offering details.

Subject Information

Grading System



One session


School of Biomedical Sciences

Assumed Knowledge

Students are assumed to have knowledge equivalent to first year undergraduate chemistry and cell biology.

Learning Outcomes

Upon successful completion of this subject, students should:
  • Be able to describe DNA structure, Chromatin structure, DNA replication, transcription, RNA processing, translation, mutation induction, DNA repair and RNA interference.
  • Be able to describe Mendelian inheritance principles and predict phenotypical outcomes using Mendelian genetics and the chromosomal theory of inheritance
  • Be able to identify, describe and explain, using genetic concepts, how genetic changes can cause or contribute to human disease by comparing the normal situation with the pathophysiology of the disease.
  • Be able to define and discuss how DNA technology influences/furthers our knowledge of genomics and epigenetics and explain how this can direct diagnostics, prognostics and treatment of human disease (with a focus on cancer) in the future
  • Be able to describe and analyse the genetics, pathophysiology, genetic testing and treatment of Mendelian inherited disorders using one Mendelian disorder as an example
  • Be able to discuss the ethical and professional issues arising from testing, diagnosing, prognosticating or treating of genetic disorders


This subject will cover the following topics:
  • Chromosomes and cellular reproduction
  • Basic principles of heredity
  • Sex determination and sex linked characteristics
  • Extensions and modifications of basic principles
  • Pedigree analysis, applications, genetic testing and ethics
  • Linkage, recombination and eukaryotic gene mapping
  • Chromosome variation
  • DNA: The chemical nature of the gene
  • Chromosome structure and DNA replication
  • Transcription
  • RNA molecules and RNA processing
  • The genetic code and translation
  • Gene mutations and DNA repair
  • Molecular genetic analysis and genomics/proteomics
  • Epigenetics and cancer genetics


For further information about courses and subjects outlined in the CSU handbook please contact:

Current students

Future students

The information contained in the CSU Handbook was accurate at the date of publication: May 2019. The University reserves the right to vary the information at any time without notice.