652-305 Human Genetics

Credit Points

Coordinator

Prerequisites

Genetics 652-204 or 652-214 and 652-205 or 652-215. (Before 1997: 652-201)

Semester

Contact

Subject Description

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 which permit findings at the DNA level to be related to phenotype;
• 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; screening for genetic diseases; genetic counselling, human cytogenetics; gene-environment interactions. Ethical issues will be discussed in context in various sections of the course.

Assessment

A 3-hour end-of-semester written examination; up to three problems/assignments each less than 1000 words.