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Transcript
Fundamentals of Human Genetics
MCDB 1041
Course website:
www.mcdb.colorado.edu/courses/1041/
Text: Human Genetics: Ricki Lewis, 9th or 10th ed
Instructor:
•  Dr. Jenny Knight
•  [email protected]
•  Office: Porter B121B
•  Office hours: W, TH 10-11 AM
Learning Assistants:
Justin Murray
Jesse Van Divier
My general goals for you in this class:
• Learn the fundamental principles of genetics and how
to apply them in understanding real life scenarios and
solving problems
• Learn how scientists do science
• Appreciate the relevance of genetics to your daily
lives and futures
• Gain/hone skills that will help you succeed in general
Course Details:
A thorough description of how the
course works is online from the Course
Information link of the course
webpage:
www.mcdb.colorado.edu/courses/1041/
Please review it carefully.
Course structure in brief:
•  Class notes and powerpoints: posted on
WEB PAGE (NOT D2L) from Syllabus
link: click on the class number.
•  In class participation: bring clicker to
class every day and also be prepared to
work on things both individually and as a
group.
Pre-class questions and Homework: see syllabus.
All will be available and submitted online using D2L
First pre-class assignment is due by 11 AM on
Wednesday.
Quizzes: 4 quizzes. Each quiz has both an
individual component and a group component, more
details online.
Final Exam: Cumulative!
Final Group Project: a chance for you and your
group to work creatively on a topic of your
choosing, related to biotechnology. More later.
My approach to teaching
We re in a partnership where I help you learn the
material, but you are an active driver of that process.
You take advantage of each other as resources. There will
be a lot of group work and discussion of ideas.
You work actively in each class period to develop an
understanding of the material, which will include a lot of
problem solving!
Boring!
Active!
Fun!
More effective for learning!
Groups and group work
You will work in groups of 3, or at the most
4 if you don’t have a multiple of 3 at your
table.
You’ll work together in this group in class,
MWF
You’ll do group projects together, which will
require some out of class time
Please split into groups
1. Make a nametag for yourself; keep
this in your notebook so you can use it!
2. Introduce yourself to your neighbors
3. Create a list of things related to
genetics that are you find interesting
and want to learn more about
Put your names and table number at the
top of your list and hand in!
What do you think when you look at these kids?
My kids, at Christmas, 2013
Physical traits are determined by
•  genes
•  environment
We will begin by considering only the genetic
components of physical traits; later we’ll talk about the
combination
Physical traits: some are “single gene traits”
physical or measurable output is due to the
protein product of a single gene
Many physical traits and diseases are the output of
multiple genes and the environment, but we will start in
this class by considering traits caused by single genes
The field of genetics uses a lot of terminology
You need to know some of this language in order to
learn about genetics
Talk with the people around you about these terms:
Gene
Allele
Genotype
Phenotype
As a group of 3, decide on a good definition for each
word, and explain how the terms are related.
Then share with the rest of your table and write your
definitions on the white board for your table. .
Please get out your clickers. If you
don’t have one today, it’s ok, but don’t
forget to bring them to class every day
from now on!
Your mom and dad are both free of any
genetic diseases, as are you. Is it
possible for you to have a sibling with
the genetic disease sickle cell anemia?
a.  Yes
b.  No
Discuss with your neighbor. Why?
Sickle cell anemia is a recessive disease.
What do the terms dominant and recessive mean?
Dominant (“A”): describes a version of a gene that causes
a phenotype when present in one copy
example: an individual with an AA or Aa genotype
both show the dominant phenotype
Recessive (“a”): describes a version of a gene that is
required in two copies to produce a phenotype
example: aa genotype shows the recessive phenotype
When a disease (or other phenotype) is recessive, a person
can be a carrier of the disease genotype, but not have a
disease phenotype
Pick the order that best represents relative size,
from smallest size to largest size
a. 
b. 
c. 
d. 
e. 
Gene, DNA, Chromosome
DNA, Chromosome, Gene
DNA, Gene, Chromosome
Chromosome, DNA, Gene
Chromosome, Gene, DNA
Discuss with your neighbor.
A is best answer, but if you were thinking of DNA
as a DNA nucleotide (ie, a “base”, like ATGC) then
C was a reasonable choice as well
What you should do by next time:
•  Spend some time on the course web page getting to know
how the course works, where to find materials, etc.
•  Go to D2L and figure out how to use it if you don’t
already know. Your first assignment is due by Wednesday
at 11 AM so don’t delay!
• Register your iClicker and bring it to class every day.
Note: bringing someone else s clicker to class
and double clicking is a violation of the honor code!
•  Do the reading on the syllabus (before class) and
complete any pre-class assignments to prepare for class