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 humans
3. Understand how genetic linkage mapping has been used to identify genes which are mutated in single
gene disorders
4. 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 examples
2. 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 technologies
3. . (emonstrate that you understand key concepts in genetic mapping such as
! informative meioses
! phase
! L)( score analysis
! linkage dise'uilibrium
4. 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
6. (nderstand the basics if the huan )aryoty#e and ho* it can be labelled and easured+ including
a ,no*ledge of u# to date technologies blurring the boundaries of cytogenetics and olecular
genetics
-. )no* *hat clinical issues or features *ould trigger cytogentic in'estigations and be able to
described the ty#e of in'estigation to fit the #roble
.. (nderstand the differences bet*een soatic and gerline chroosoe abnoralities in ters of
their conse/uences
0. A##reciate the conce#t of ris, and ho* for the sae disorder the ris, of different outcoe 'aries
*ith the /uestion being as,ed.
11. %a'e ,no*ledge of ho* and *hy chroosoe abnoralities can cause or contribute to cancer
ourse oordinator
"r 2.3. 4udbery
!ecturers
5ectures 1- 0 2rofessor 2eter 4udbery 67oo 31.a Firth 8ourt9. 2.4udbery:shef.ac.u,9
5ectures 0-1. "r Alistair ;oldan 67oo 31.b Firth 8ourt9 6A.goldan:shef.ac.u,9

<eaching !ethods.
1. ,ou will attend -. one!hour teaching sessions that will either be in the form of lectures or large group tutorials.
2. $he factual information for (r /udbery0s lectures covered in his text book 1uman +olecular 2enetics &rd edition
345567. $he course will focus on chapters.8 and 9. *hapter 9 is available as an eoffprint from the University
library.
3. :or an alternative view of the same material see 1uman +olecular 2enetics textbook by /trachan and ;ead
*hapters .,6,-8,-<,-=
4. $he website for the course is the +>>&45 +)L? page 3see below7
"ecommended reading.
<he course *ill also consider selected recent #a#ers that illustrate recent de'elo#ents in the field. =ou *ill be e>#ected to read these
#a#ers. 5in,s to online 'ersions of these #a#ers *ill be a'ailable in the course !?53 site
#e$t boo%s
2.3. 4udbery. %uan !olecular ;enetics. 3rd edition 2earson 3ducation 2110
<. 4trachan and A.2. 7ead %uan !olecular ;enetics 4. ;arland 4cience 2111
&ebsites.
A !?532 #age *ill be aintained for this course *hich #ro'ide:
!y3cho record of each lecture and lecturers notes *ill be #osted after e'ery lecture.
5in,s to @eb sites of interest
5in,s to #df files of recoended Aournal reading
Feed bac, /uestions to allo* students to test their understanding as the course #rogresses
ourse Assessment.
<he course assessent *ill be based on a t*o hour e>a consisting of t*o sections. ?ne section *ill co'er co'ering the
aterial fro 2rofessor 4udbery lectures. <he other section *ill be based on "r ;oldanBs. =ou *ill be re/uired to ans*er one
/uestion fro each section. <he forat and ty#e of /uestion *ill be siilar to the s#ecien #a#er *hich *ill be a'ailable fro
the !BB general office and #osted on the !?532 site.
2rofessor 2eter 4udbery
12 Co'eber 2114