BMS2042

Human genetics

6 points · 3 lectures per week, 3 hours practical or equivalent · Second semester · Clayton

Objectives This subject will provide students with an understanding of modern human genetics as it relates to both clinical practice and biomedical research. On completion students will be aware of the value of model organisms in human genetic studies; know how human genes and their functions are identified; be able to perform gene mapping analyses and relate this knowledge to gene cloning: understand the interaction of clinical genetics practice with molecular biological techniques; identify modes of inheritance of genetic diseases and relate this knowledge to risk assessment and genetic counselling; understand the relationship of cancer to gene and cell regulation, mutation and development; understand the techniques and strategies used in the human genome project, appreciate the value of the information so gained and appreciate the ethical problems raised; have developed skills in the analysis and presentation of data and scientific ideas; have the ability to undertake more advanced studies in genetics in the third year of the course.

Synopsis This subject introduces human genetics by means of the following topics: gene mapping and its relationship to gene cloning, identification of gene function, genetic, molecular and clinical basis of genetic disease and identification of mode of inheritance, cancer genetics and its relationship to gene regulation and mutation, the human genome project and the value of model organisms. Practicals will include techniques involving polymerase chain reaction (PCR) and DNA profiling, in situ hybridisation and chromosome identification as well as computer assisted data analysis and student presentations.

Assessment Examination: 60% · Laboratory reports and oral presentation: 30% · Essay 10%

Prescribed texts

Jorde and others Medical genetics Mosby, 1997

Back to the 1999 Medicine Handbook