Biology2CO3 / MolBiol 2C03

Genetics
Instructor:
Dr. Kimberley Dej
LSB 425
dej@mcmaster.ca

Instructional Assistant:
Dr. Mihaela Georgescu
LSB 119A
mgeorg@mcmaster.ca

Tutorials begin next week!

Evaluation:

Midterm
Tutorial quizzes
Participation

35%
6%
2%

Tutorial assignments 17%

Exam

40%

Requests for Relief for Missed Academic Term Work

Students may report absences lasting up to 5 days by using
the McMaster Student Absence Form (MSAF) on-line, selfreporting tool, in order to request relief for missed academic
work.
Students may use this tool ONCE for relief of missed
academic work per term.
Please list Mihaela Georgescu (mgeorg@mcmaster.ca) as the
contact for the MSAF. Immediately after using the online tool,
students MUST contact Mihaela Georgescu
(mgeorg@mcmaster.ca) regarding the nature of the relief.
Failure to do so may negate the opportunity for relief.

Requests for Relief for Missed Academic Term Work

If you miss the midterm test, you must write a makeup test.
The makeup test will be of a different format from the original
test, but will cover the same material.

If you miss a tutorial, the first time you do not need an MSAF.
Please contact Mihaela Georgescu (mgeorg@mcmaster.ca)
and arrange to attend another tutorial that week so that you do
not miss the quiz. If you miss a tutorial, you will get zero on
that quiz.

What is a gene?
A gene is a locatable region of a genomic
sequence corresponding to a unit of inheritance
which is associated with regulatory regions,
transcribed regions, and/or other functional
sequence regions
A gene is a union of genomic sequences encoding
a coherent set of potentially overlapping functional
products

What is a genome?

Fundamental
principles of
inheritance
Inside DNA

Principles of
molecular
genetics

Inside DNA

Inside DNA

Sequenced genomes:
4000 prokaryotes
200 eukaryotes

2001 : human genome sequencing (cost? 3 billion)

2007 : sequencing of the genome of J.Watson

(cost? $1million, 2 months)

2013 : goal = individual genomes sequenced for $1000

Are we there?

At least 2,700 human genomes completed in 2010, and it

was predicted that the total would rise to more than
30,000 by the end of 2011.

Human genome:
genomes by the
thousand.
http://www.nature.com/ne
ws/2010/101027/full/4671
026a.html

What information is in a sequenced genome?

Scientific American (Ast, 2005)

What information is in a sequenced genome?

2004 : HG analysis:
3 billion base pairs
estimated 23,000 protein-coding genes
96 to 98.5% of genome is NOT protein-coding

If genome sequences are

not protein coding, what
are they there for?

What information is in a sequenced genome?

2012 : at least 80 percent of the genome is

biologically active, with much non-protein-coding
DNA regulating nearby genes in a complex dance of
influence.
ENCODE
(ENCyclopedia Of DNA Elements)

What does this mean?

Regulatory sequences are essential parts of genes.

Genetics: hereditary basis of traits

Old: genetic mutations as the cause of disease

New: genetic variation that influences human traits

Traits and diseases are polygenic (influenced by many
genes) and important nucleotide changes occur in noncoding sequences.

Era of personalized medicine.

Limits to genetic information? What is the influence of

environment, epigenetics.