Principles of Human Genetics
Biology 3592A
Fall 2014
Genetic principles and their application to humans. Special attention will be directed to the genetic
variation in our species, mutation, mechanisms of gene expression and mapping the human genome.
Prerequisites: Biochemistry 2280A; Biology 2582B
Instructor:
Dr. Patrick McDonald ([email protected])
Assistant Professor, Department of Biology
Office:
Collip room 209
Office Hours Wednesday 10:00 – 11:00 am
Lectures:
Tuesday and Thursday 1:30 – 2:30 pm (UCC 146)
Lecture slides will be posted on OWL
Tutorials:
Wednesday 1:30 – 2:30 (3 sections - CHB 9, NCB 285, UC 142)
Teaching Assistants: Naeem Nathoo ([email protected])
Michael Del Vasto ([email protected])
John Loggie ([email protected])
Zayn Khamis ([email protected])
Textbook(s): Thompson and Thompson Genetics in Medicine 7th edition (primary)
Strachan and Read Human Molecular Genetics 4th edition (optional)
Both available for 2h loan at the library
OWL site:
http://owl.uwo.ca will be the central location for materials relating to Bio3592A. The
OWL forum is the primary location for students to ask questions about the course
and lecture material.
Course Evaluation:
7 Tutorial Assignments
Midterm Exam (45 mins in class)
Final Exam (3 hours)
30%
20%
50%
(late assignments given zero; best 6 of 7)
Tues Oct 21 in class
December Exam Schedule
Tutorial Assignments: Due at the beginning of tutorial. Late assignments will not be marked and
given a grade of zero. Group discussion is encourage, but plagiarism is not acceptable. Photocopies
will not be accepted. Scholastic offences are taken seriously and students are recommended to be
familiar with the UWO policy:
http://www.uwo.ca/univsec/pdf/academic_policies/appeals/scholastic_discipline_undergrad.pdf
Accessibility Statement:
If you require any arrangements to make this course more accessible, contact Services for Students
with Disabilities (SSD). Email: [email protected] Phone: (519) 661-2147
Absence From Midterm or Final Exam:
If you are unable to write the midterm or final exam due to illness or other serious circumstances,
you must inform your instructor by email and provide valid medical or supporting documentation to
the Academic Counselling Office. It is located in WSC 191, and can be contacted at 519-661-3040
or [email protected].
For further information, please consult the university’s medical illness policy at
http://www.uwo.ca/univsec/pdf/academic_policies/appeals/accommodation_medical.pdf.
Students who are unable to write the midterm exam before the original exam is returned to the class
will have a reweighed final exam.
Support Services:
Learning-skills counsellors at the Student Development Centre (http://www.sdc.uwo.ca) are ready
to help you improve your learning skills. Individual support is offered throughout the Fall/Winter
terms in the drop-in Learning Help Centre, and year-round through individual counselling.
Students who are in emotional/mental distress should refer to Mental Health@Western
(http://www.health.uwo.ca/mental_health) for a complete list of options about how to obtain help.
Additional student-run support services are offered by the USC, http://westernusc.ca/services.
The website for Registrarial Services is http://www.registrar.uwo.ca.
Tentative Lecture Schedule
Date
Lecture
Genetics
in
Tutorial
Medicine
#1 - Sept 4
Topic
Course introduction
#2 - Sept 9
2
Sept 10
Chromatin, cell cycle and mitosis
No tutorial
#3 - Sept 11
2
Meiosis, gametogenesis and fertilization
#4 - Sept 16
3
Human gene structure and function
Sept 17
Mitosis, meiosis, gene structure and function
#5 - Sept 18
Human genomics
#6 - Sept 23
5
Sept 24
Cytogenetics 1: Introduction, chromosome banding and staining
Tutorial assignment #1 due
#7 - Sept 25
5
#8 - Sept 30
5,6
Oct 1
Cytogenetics 2: Chromosome abnormalities and mosaicism
Cytogenetics 3: Imprinting and autosomal disorders
Tutorial assignment #2 due
#9 - Oct 2
6
#10 - Oct 7
3,7,12
Oct 8
Sex chromosomes
Mitochondria
Tutorial assignment #3 due
#11 - Oct 9
4
Molecular genetic techniques 1
#12 - Oct 14
4
Molecular genetic techniques 2
Oct 15
Question and answer - review
#13 - Oct 16
Question and answer - review
#14 - Oct 21
Midterm Exam (in class) 45 minutes
Oct 22
Tutorial assignment #4 due
#15 - Oct 23
7
Single gene disorders
#16 - Oct 28
8
Complex disorders
Oct 29
Tutorial assignment #5 due
#17 - Oct 30
No Class – Fall Break
#18 - Nov 4
Epigenetics
Nov 5
Tutorial assignment #6 due
#19 - Nov 6
9
#20 - Nov 11
10,12
Nov 12
Variation, mutation and polymorphism
Mapping, gene identification and cystic fibrosis
Tutorial #7 due
#21 - Nov 13
11,12
#22 - Nov 18
7
Nov 19
Molecular basis of disease
Triplet repeat expansion and disease
Pick up remaining assignments - discussion
#23 - Nov 20
10,12
Duchenne and Becker muscular dystrophy
#24 - Nov 25
15,17
Personal genomics
Nov 26
#25 - Nov 27
Question and answer: review
18
#26 - Dec 2
Pharmacogeneitcs and repetitive DNA
Question and answer: review
Dec 3
Question and answer: review