Bio101:

An Introduction
to
Human Genetics
Adam Wasilko
Michaela Noakes

Genetics: The Basics

The science of biological
inheritance
The study of heredity, how traits
are passed on from one
generation to another, and what
makes each species unique

What traits do you share

with your:
parents?
Grandparents?
Siblings?

The discovery of
genetics
Gregor Mendel
Austrian monk
The father of genetics
Famous experiments with
pea plants

Pea Plants?
What might make this a good plant to
study?

Main reasons:
presence of observable traits with contrasting
forms
produces many offspring in one cross
short life cycle
ease in manipulating pollination (can easily cross
pollinate)

 Mendel used true-breeding plants

which means if they were left to breed
with themselves they would produce
offspring identical to themselves.
Mendel studied 7 different traits in
pea plants.
A trait is a specific characteristic that
varies from one individual to another.

The language of genetics

Gene:
A segment of a
chromosome that produces
a particular trait.

 Each trait is produced by a pair of hereditary

factors collectively know as GENES.
Within a chromosome, there are many genes,
each of which controls the inheritance of a
particular trait.
A GENE is a segment of a chromosome that
produces a particular trait.
As we discussed, in pea plants, theres a gene
on the chromosome that holds the code for
seed coat color

Alleles
A pair of hereditary factors
that
make up a gene
or
(different forms of a gene)

 A gene usually consists of a pair of

hereditary factors called alleles.
Each organism carries two alleles
for a particular trait, one from the
mother and one from the father.
Another way to say this is that
two alleles make up a gene, which
in turn produces a particular trait.

 Dominant Allele
A hereditary factor that takes over the
gene determining the trait

Recessive Allele
A hereditary factor that is hidden by a
dominant allele

A genetics boxing match

The winner gets to express
their trait

 some alleles are dominant and

others are recessive.
Dominant alleles are always
expressed.
Recessive alleles are only expressed
if both alleles are recessive.

 an allele can be DOMINANT or RECESSIVE.

A Dominant allele wins.
Written with an UPPERCASE letter. T, B, N
A Recessive allele hidden by the
dominant. Written with a lowercase letter.
t,b,n

 Homozygous
Two identical alleles for a particular trait.

BB or b
(blue eye, blue eye)
(brown eye, brown eye)

Heterozygous
Two different alleles for a particular trait.

Bb
(brown eye, blue eye)

 Genotype
The genetic makeup of an
organism due to the genes
present
The biological coding that
expressed your eye color, hair
color, etc.

 Phenotype
The actual trait that is expressed by
your genes
such as hair color or eye color

Parent vs. filial generation

The first generation is always called
the parent or P1 GENERATION.
The offspring of the P1 generation
are called the first fillial or F1
generation.
The offspring of the F1 generation
are called the F2 generation.

How can we predict

outcomes?
Punnett Squares used to predict
genetic crosses.
Make a two by two box, fill in known
information and cross them

 Here we will cross two heterozygous

traits, tT and tT
Which trait will be expressed in each
of the four scenarios?
What is most likely to happen?

 These can be very complicated, or

simple, depending on what you are
trying to predict
Back to Mendel and the peas:

Mendels Laws
Over many generations Mendel was able to observe
some things that always happened!
Here is what he said:
The inheritance of biological characteristics are
determined by genes.
For two or more forms of a gene, dominance and
recessive forms may exist.
Most sexually reproductive organisms have two sets
of genes that separate during gamete formation.
Alleles segregate independently.

Its not always that easy!

Codominance Both alleles
contribute to the phenotype. Red
cow X White Cow = Roan Cow.

 Incomplete Dominance One allele is

not completely dominant over the
other. White flower crosses with a red
= pink flower.

 Multiple Alleles More than two

alleles control the phenotype. Coat
color of rabbits.

 Polygenic traits Several genes

control the trait. Skin color in
humans.

Research Assignment
Now that we know some basics of
genetics we can apply them to real
world situations.
Many common diseases are classified
as genetic diseases, meaning they
are passed on through family lines

22q11.2 deletion syndrome

Angelman syndrome
Canavan disease
Celiac disease
Charcot-Marie-Tooth disease
Color blindness
Cri du chat
Cystic fibrosis
Down syndrome
Duchenne muscular dystrophy
Haemochromatosis
Haemophilia
Klinefelter's syndrome
Neurofibromatosis
Phenylketonuria
Polycystic kidney disease
Prader-Willi syndrome
Sickle-cell disease
Tay-Sachs disease
Turner syndrome

Wiki Assignment
Form groups of 3
Using the blackboard wiki tool write a
wiki based on the genetic disease of
your groups choice
Include
background information,
what type is it (dominant, sex linked,
recessive)
Treatment and detection of the disease
Current research on the disease

Supplemental Material
Go through the flashcards a few times
Become familiar with the vocabulary
of genetics
This will be our language for the whole
semester!

http
://www.flashcardexchange.com/flashcard
s/view/1555508
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