652-305 Human Genetics

Genetics 652-214 and 652-215.

BBiomedSc students: Genetics 652-214, 521-213 and 536-250.

Upon completion of the subject students should have:

• appreciated the importance of genes in influencing human health, disease and evolution;

• recognised ways in which environmental factors may modify the effects of genes;

• appreciated the ethical issues raised by the 'New Genetics';

• understood the basic techniques and concepts of molecular genetics and human genomics which permit findings at the DNA level to be related to phenotype; and

• developed skills in use and application of methods of gene mapping and linkage in humans.

This subject focuses on several key areas in contemporary human genetics: mutation in humans and its molecular basis; polymorphisms; selection and its consequences; gene mapping; strategies for identifying genes which cause human disease; the molecular basis of genetic diseases; genetics of cancer and aging; the Human Genome Project and its applications; screening for genetic diseases; genetic counselling, human cytogenetics; and gene-environment interactions. Ethical issues will be discussed in context in various sections of the course.

A 3-hour end-of-semester written examination (85%); up to three problem sets/assignments each less than 1000 words (5%); a test during semester (10%).