aims and objectives mbb 320 2013-14(1)

8/11/2019 Aims and Objectives MBB 320 2013-14(1)

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MBB320 Human Genetics 1. Aims and objectives

General learning outcomes.

At the end of the course you should:

1. Appreciate the ways in which genetic factors influence lifetime health.2. Understand the general principles of genetic linkage mapping in humans3. Understand how genetic linkage mapping has been used to identify genes which are mutated in single

gene disorders4. Use case studies based on common single gene disorders to appreciate how identifying the affected gene:

a. provides the basis of diagnostic genetic tests;b. provides the basis of further investigation that helps us understand the role of the normal protein

and the molecular pathology arising from the mutation, which in the long term can lead to novel

therapies.5. Appreciate the role of genetic factors in inherited and sporadic cancer

6. Understand the importance of maintaining the normal karyotype and the ways in which the normal

karyotype may be disturbed.

Specific learning outcomes.

By the end of the course you should be able to:

1. List the ways in which genetic factors affect health and adduce examples2. Understand the organisation of the human genome architecture having a general appreciation of:

! "ts si#e and complexity! $he organisation and si#e of genes! $he extent and effect of alternative splicing! $he emerging complexity of genome transcription patterns and its implications

! $he extent of variability between different individuals! $echnologies developed as part of the human genome pro%ect such as microarrays and &rd

generation se'uencing technologies3. .(emonstrate that you understand key concepts in genetic mapping such as

! informative meioses

! phase

! L)( score analysis

! linkage dise'uilibrium4. Understand how genetic mapping is used to identify disease genes for which there is no prior knowledge

of the encoded protein

5. (escribe the main features of the following monogenic disorders and discuss our knowledge of the role of

the normal protein and the molecular pathology arising from the mutations! *ystic fibrosis! (uchenne +uscular (ystrophy and related disorders of the muscular system! $he general features of trinucleotide repeat expansion diseases with particular reference to:

i. Fragile X-syndroe

ii. !yotonic "ystro#hy ty#es $ and $$

iii. %untington&s disease

i'. "uchenne !uscular dystro#hy


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the !BB general office and #osted on the !?2 site.

rofessor eter udbery2 Co'eber 214

aims and objectives mbb 320 2013-14(1)

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