GENETICS
GENETICS
Every trait (or characteristic) in your body comes from
instructions from your mother and father

Father

Mother
GENETICS

The instructions are coded in the DNA as genes. Genes
are located in chromosomes.

Genes
Segments of DNA that
code for specific traits
For example…
Gene for height
Gene for eye-color

This is not an accurate example. It’s just used to illustrate a point.
GENETICS
A closer look…

Half of the offspring’s chromosomes are from mommy, and
half are from daddy.

Father

Mother
GENETICS
A closer look…

Humans have 23 different chromosomes. We get 1 of
each from our parents, for a total of 46 in somatic cells.
GENETICS
A closer look…

Homologues
Homologues
Not
homologues

A pair of the same types of
chromosomes are called
homologous chromosomes,
or just homologues.
This picture has 22 pairs of
homologous chromosomes.
GENETICS
Chromosomes and their genes are passed to the offspring
(children) through sperm and egg cells (gametes)

Egg cells

23 chromosomes

Sperm cells
Father

Mother
23 chromosomes
GENETICS
Chromosomes and their genes are passed to the offspring
(children) through sperm and egg cells (gametes)

Father

Mother
GENETICS
9 months later…

Father

Mother

The offspring is born
GENETICS
Each gene has alternate forms, called alleles. For
instance, the gene for eye colour may have 2 alleles:
brown or blue

Brown eyes
Blue eyes

Father passed-on:
Brown eyes

Mother passed-on:
Blue eyes
GENETICS
Some alleles can “mask” the effects of the other allele.
Although the
mother has blue
eyes, the child has
brown eyes.

Father
Brown eyes

Mother

In this case, brown eyes are “dominant”
As a result, blue eyes are “recessive”

Blue eyes
GENETICS
Some alleles can “mask” the effects of the other allele.

Dominant – traits that are
expressed more often.

Alleles that are dominant are usually
represented by a capitalized letter
symbolizing that allele (i.e. B)

Recessive – traits that are
expressed less frequently.
Brown eyes

Blue eyes

Alleles that are recessive are usually
represented by a lower-case letter
symbolizing that allele (i.e. b)
GENETICS
Dominant and Recessive Alleles:
Daughter’s genetic makeup:
Brown eyes

Blue eyes

How can the daughter’s two alleles (genotype) be written?
Let the allele for brown eyes be B, and the allele for blue eyes be b
Brown eyes

Bb

Blue eyes
GENETICS
Dominant and Recessive Alleles:

Brown eyes

Bb

Blue eyes

Notice how the daughter carries the allele for blue eyes, but she does
not have blue eyes.
Thus her phenotype (observable trait) is brown eyes.
GENETICS
Homozygous vs. heterozygous
Brown eyes

Bb

Blue eyes

Since she carries two different alleles for eye colour, we
can say that she is heterozygous for eye color.
Heterozygous – describes the genotype of an organism that
contains two different alleles (ex. Bb)
GENETICS
Homozygous vs. heterozygous
blue eyes

bb

Blue eyes

If she had blue eyes, we can say that she is
homozygous for eye color.
Homozygous – describes the genotype of an organism that
contains two alleles that are the same (ex. BB)
GENETICS
But wait…

Father

Is this possible?!

Mother
GENETICS

Yes this is possible
The father could have carried the recessive allele for blue
eyes as well…

Father

Bb

bb

Mother

bb

…although you can’t tell because he has the dominant
brown eye allele (which “masks” blue eyes)
GENETICS
The father’s parents could have passed the blue eye allele to
him

Grandpa

Grandma

bb

BB

Father

Bb
GENETICS
All too complicated?

Let’s take a look at how it all started…
Gregor Mendel (1822-1884)
- Known as the father of genetics
- Worked with pea plants
GENETICS
Mendel’s pea plants

He observed 2 traits for each part of the plant
GENETICS
Mendel’s pea plants

Mendel came up with the concept of alleles.
He noticed that alleles are hereditary, and that you can predict
the probability of the offspring having certain alleles.
GENETICS
Mendel’s pea plants

He also noticed that some traits dominated over others

For instance, if you “crossed” a yellow-pea plant with a
green-pea plant, you generally get a yellow-pea plant
Mendel Video
GENETICS
Mendel’s pea plants

What does “crossing” the pea plants mean?
It means to mate a plant with another plant by pollination.
Garden peas are both self-fertilizing and cross-fertilizing.
Self-fertilizing – a plant’s pollen grains fertilize it’s own egg cells in the
ovary
Cross-fertilizing – a plant’s pollen grains fertilize another plant’s egg cells
in the ovary
GENETICS
Mendel’s pea plants

This allowed Mendel to mate pea plants with each other as
well as with itself.
For example, you can mate a
purple flower pea plant with itself.

This is called a
Punnett Square

MATE!
GENETICS
Punnett Square
This means that mating a pea
plant that is heterozygous for
flower colour (Bb) with itself will
produce…
F1 GENOTYPE:
25% BB
50% Bb
25% bb
A 1:2:1 ratio
F1 PHENOTYPE:
75% purple flowers
25% white flowers
F1 stands for filius and filia, which in Latin means
“son” or “daughter”
GENETICS Square
Constructing a Simple Punnett
Step 1: Draw a square with a 2 by 2 grid
GENETICS Square
Constructing a Simple Punnett
Step 2: Choose a letter for your allele and
record this choice
Let the allele for purple flower be represented by the letter B
GENETICS Square
Constructing a Simple Punnett
Step 3: Consider all possible gametes produced by the
first parent. Write the alleles for these gametes across
the top of the square
Let the allele for
purple flower be
represented by the
letter B

Bb

B

b
GENETICS Square
Constructing a Simple Punnett
Step 4: Consider all possible gametes produced by the
second parent. Write the alleles for these gametes down
the side of the square
Let the allele for
purple flower be
represented by the
letter B

B

bb

b
b

b
GENETICS Square
Constructing a Simple Punnett
Step 5: Complete the square by writing all possible allele
combinations from the cross

B
b
b

b

Let the allele for
purple flower be
represented by the
letter B
GENETICS Square
Constructing a Simple Punnett
Step 6: Determine the genotypic and phenotypic
proportions of the offspring
Let the allele for
purple flower be
represented by the
letter B

B

b

Bb

b

bb

F1 Genotypes:
50% Bb
50% bb
F1 Phenotypes:

b

Bb

bb

50% of the plants
have purple flowers
50% of the plants
have white flowers
GENETICS

A plant that is homozygous for purple flowers is crossed with a plant
that has white flowers. If the purple condition is dominant over the
white condition, what are the genotypes and phenotypes of the F1
generation?
GIVEN:

Let the allele for flower color be presented by the letter P
Parent genotypes:
Parent gametes:

PP
P or P

X
X

pp
p or p

Parent # 1 gametes

Results:
P

Parent # 2
gametes

p

Pp

Pp

25%

p

P

25%

Pp

Pp

25%

25%

Therefore the results of
the PP x pp cross
indicate that:
F1 genotypes: 100% are
Pp (or 4 out of 4 are Pp)
F1 phenotypes: all plants
have purple flowers
GENETICS

Sheep ranchers prefer white sheep over black sheep, because black
fur is hard to die and is brittle. The allele for black fur is
recessive. As a result, if a sheep rancher wishes to purchase a
white fur sheep for breeding, how does she/he know if it will make
black fur babies (in other words, how does the rancher know if
her/his sheep is homozygous or heterozygous?)?

A test cross can be performed to determine the genotype of a
dominant phenotype, which involves breeding the unknown
genotype with a homozygous recessive genotype. In this case the
white sheep with an unknown genotype will be bred with a
homozygous recessive black fur sheep.
WHY WERE MENDEL’S FINDINGS
IMPORTANT?
Once we find traits that we like in an organism (for
example, a dog), we can maintain these traits by
mating closely related individuals for the purpose of
maintaining or perpetuating these characteristics (this
is called “inbreeding”)
WHY WERE MENDEL’S FINDINGS
IMPORTANT?
-We can also mix traits that we like together from
different species (in plants)
-This process is called “hybridization”
WHY WERE MENDEL’S FINDINGS
IMPORTANT?
Genetic Screening:
-we can tell if an individual
carries an allele (or two
alleles) for genetic disorders
-Amniocentesis and Chorionic
Villus Sampling (CVS)
WHY WERE MENDEL’S FINDINGS
IMPORTANT?
AMNIOCENTESIS:
Looking at fetal
cells from the
amniotic fluid
WHY WERE MENDEL’S FINDINGS
IMPORTANT?
CHORIONIC VILLUS
SAMPLING (CVS):
Sampling tiny
fingerlike projections
on the placenta
Can be performed
earlier (10th to 12th
week of pregnancy)
than amniocentesis
THE STORY ISN’T AS SIMPLE…
There are often
more than 2
alleles per
gene…
…but each
organism can
ONLY have two
different alleles
for a trait at any
one time

This is called
having multiple
alleles for one
gene

We usually
express these
alleles like this:
E1, E2, E3, E4
THE STORY ISN’T AS SIMPLE…

Codominance:
Both alleles are
expressed at the
same time
THE STORY ISN’T AS SIMPLE…

Incomplete
dominance: two
alleles are equally
dominant
THE STORY ISN’T AS SIMPLE…
SEX-LINKED TRAITS
- Traits that are
controlled by genes
located on the sex
chromosomes
(usually the X
chromosome)
Ex: Duchenne
muscular
dystrophy,
hemophilia,
Charcot-MarieTooth disease and
color blindness
-Usually
represented like
this:
XR Xr
SEX-LINKED TRAITS
Females get 2 X chromosomes:

Protected by
other X
chromosome
Males get ONE X chromosome:

Disease!!!
SEX-LINKED TRAITS
Females get 2 X chromosomes:

-1 gets turned off (called a
Barr Body)
-some cells have one X
chromosome inactive, while
other cells have the other
inactive
GENETICS
Dihybrid cross
So far what we have done
is a monohybrid cross,
which only involves one
trait. What if you wanted
to see how two different
traits are passed on to the
next generation?
Male RrYy x Female RrYy
GENETICS
Dihybrid cross
So far what we have done
is a monohybrid cross,
which only involves one
trait. What if you wanted
to see how two different
traits are passed on to the
next generation?
Male RrYy x Female RrYy

03 mendelian genetics

  • 1.
  • 2.
    GENETICS Every trait (orcharacteristic) in your body comes from instructions from your mother and father Father Mother
  • 3.
    GENETICS The instructions arecoded in the DNA as genes. Genes are located in chromosomes. Genes Segments of DNA that code for specific traits For example… Gene for height Gene for eye-color This is not an accurate example. It’s just used to illustrate a point.
  • 4.
    GENETICS A closer look… Halfof the offspring’s chromosomes are from mommy, and half are from daddy. Father Mother
  • 5.
    GENETICS A closer look… Humanshave 23 different chromosomes. We get 1 of each from our parents, for a total of 46 in somatic cells.
  • 6.
    GENETICS A closer look… Homologues Homologues Not homologues Apair of the same types of chromosomes are called homologous chromosomes, or just homologues. This picture has 22 pairs of homologous chromosomes.
  • 7.
    GENETICS Chromosomes and theirgenes are passed to the offspring (children) through sperm and egg cells (gametes) Egg cells 23 chromosomes Sperm cells Father Mother 23 chromosomes
  • 8.
    GENETICS Chromosomes and theirgenes are passed to the offspring (children) through sperm and egg cells (gametes) Father Mother
  • 9.
  • 10.
    GENETICS Each gene hasalternate forms, called alleles. For instance, the gene for eye colour may have 2 alleles: brown or blue Brown eyes Blue eyes Father passed-on: Brown eyes Mother passed-on: Blue eyes
  • 11.
    GENETICS Some alleles can“mask” the effects of the other allele. Although the mother has blue eyes, the child has brown eyes. Father Brown eyes Mother In this case, brown eyes are “dominant” As a result, blue eyes are “recessive” Blue eyes
  • 12.
    GENETICS Some alleles can“mask” the effects of the other allele. Dominant – traits that are expressed more often. Alleles that are dominant are usually represented by a capitalized letter symbolizing that allele (i.e. B) Recessive – traits that are expressed less frequently. Brown eyes Blue eyes Alleles that are recessive are usually represented by a lower-case letter symbolizing that allele (i.e. b)
  • 13.
    GENETICS Dominant and RecessiveAlleles: Daughter’s genetic makeup: Brown eyes Blue eyes How can the daughter’s two alleles (genotype) be written? Let the allele for brown eyes be B, and the allele for blue eyes be b Brown eyes Bb Blue eyes
  • 14.
    GENETICS Dominant and RecessiveAlleles: Brown eyes Bb Blue eyes Notice how the daughter carries the allele for blue eyes, but she does not have blue eyes. Thus her phenotype (observable trait) is brown eyes.
  • 15.
    GENETICS Homozygous vs. heterozygous Browneyes Bb Blue eyes Since she carries two different alleles for eye colour, we can say that she is heterozygous for eye color. Heterozygous – describes the genotype of an organism that contains two different alleles (ex. Bb)
  • 16.
    GENETICS Homozygous vs. heterozygous blueeyes bb Blue eyes If she had blue eyes, we can say that she is homozygous for eye color. Homozygous – describes the genotype of an organism that contains two alleles that are the same (ex. BB)
  • 17.
  • 18.
    GENETICS Yes this ispossible The father could have carried the recessive allele for blue eyes as well… Father Bb bb Mother bb …although you can’t tell because he has the dominant brown eye allele (which “masks” blue eyes)
  • 19.
    GENETICS The father’s parentscould have passed the blue eye allele to him Grandpa Grandma bb BB Father Bb
  • 20.
    GENETICS All too complicated? Let’stake a look at how it all started… Gregor Mendel (1822-1884) - Known as the father of genetics - Worked with pea plants
  • 21.
    GENETICS Mendel’s pea plants Heobserved 2 traits for each part of the plant
  • 22.
    GENETICS Mendel’s pea plants Mendelcame up with the concept of alleles. He noticed that alleles are hereditary, and that you can predict the probability of the offspring having certain alleles.
  • 23.
    GENETICS Mendel’s pea plants Healso noticed that some traits dominated over others For instance, if you “crossed” a yellow-pea plant with a green-pea plant, you generally get a yellow-pea plant Mendel Video
  • 24.
    GENETICS Mendel’s pea plants Whatdoes “crossing” the pea plants mean? It means to mate a plant with another plant by pollination. Garden peas are both self-fertilizing and cross-fertilizing. Self-fertilizing – a plant’s pollen grains fertilize it’s own egg cells in the ovary Cross-fertilizing – a plant’s pollen grains fertilize another plant’s egg cells in the ovary
  • 25.
    GENETICS Mendel’s pea plants Thisallowed Mendel to mate pea plants with each other as well as with itself. For example, you can mate a purple flower pea plant with itself. This is called a Punnett Square MATE!
  • 26.
    GENETICS Punnett Square This meansthat mating a pea plant that is heterozygous for flower colour (Bb) with itself will produce… F1 GENOTYPE: 25% BB 50% Bb 25% bb A 1:2:1 ratio F1 PHENOTYPE: 75% purple flowers 25% white flowers F1 stands for filius and filia, which in Latin means “son” or “daughter”
  • 27.
    GENETICS Square Constructing aSimple Punnett Step 1: Draw a square with a 2 by 2 grid
  • 28.
    GENETICS Square Constructing aSimple Punnett Step 2: Choose a letter for your allele and record this choice Let the allele for purple flower be represented by the letter B
  • 29.
    GENETICS Square Constructing aSimple Punnett Step 3: Consider all possible gametes produced by the first parent. Write the alleles for these gametes across the top of the square Let the allele for purple flower be represented by the letter B Bb B b
  • 30.
    GENETICS Square Constructing aSimple Punnett Step 4: Consider all possible gametes produced by the second parent. Write the alleles for these gametes down the side of the square Let the allele for purple flower be represented by the letter B B bb b b b
  • 31.
    GENETICS Square Constructing aSimple Punnett Step 5: Complete the square by writing all possible allele combinations from the cross B b b b Let the allele for purple flower be represented by the letter B
  • 32.
    GENETICS Square Constructing aSimple Punnett Step 6: Determine the genotypic and phenotypic proportions of the offspring Let the allele for purple flower be represented by the letter B B b Bb b bb F1 Genotypes: 50% Bb 50% bb F1 Phenotypes: b Bb bb 50% of the plants have purple flowers 50% of the plants have white flowers
  • 33.
    GENETICS A plant thatis homozygous for purple flowers is crossed with a plant that has white flowers. If the purple condition is dominant over the white condition, what are the genotypes and phenotypes of the F1 generation? GIVEN: Let the allele for flower color be presented by the letter P Parent genotypes: Parent gametes: PP P or P X X pp p or p Parent # 1 gametes Results: P Parent # 2 gametes p Pp Pp 25% p P 25% Pp Pp 25% 25% Therefore the results of the PP x pp cross indicate that: F1 genotypes: 100% are Pp (or 4 out of 4 are Pp) F1 phenotypes: all plants have purple flowers
  • 34.
    GENETICS Sheep ranchers preferwhite sheep over black sheep, because black fur is hard to die and is brittle. The allele for black fur is recessive. As a result, if a sheep rancher wishes to purchase a white fur sheep for breeding, how does she/he know if it will make black fur babies (in other words, how does the rancher know if her/his sheep is homozygous or heterozygous?)? A test cross can be performed to determine the genotype of a dominant phenotype, which involves breeding the unknown genotype with a homozygous recessive genotype. In this case the white sheep with an unknown genotype will be bred with a homozygous recessive black fur sheep.
  • 35.
    WHY WERE MENDEL’SFINDINGS IMPORTANT? Once we find traits that we like in an organism (for example, a dog), we can maintain these traits by mating closely related individuals for the purpose of maintaining or perpetuating these characteristics (this is called “inbreeding”)
  • 36.
    WHY WERE MENDEL’SFINDINGS IMPORTANT? -We can also mix traits that we like together from different species (in plants) -This process is called “hybridization”
  • 37.
    WHY WERE MENDEL’SFINDINGS IMPORTANT? Genetic Screening: -we can tell if an individual carries an allele (or two alleles) for genetic disorders -Amniocentesis and Chorionic Villus Sampling (CVS)
  • 38.
    WHY WERE MENDEL’SFINDINGS IMPORTANT? AMNIOCENTESIS: Looking at fetal cells from the amniotic fluid
  • 39.
    WHY WERE MENDEL’SFINDINGS IMPORTANT? CHORIONIC VILLUS SAMPLING (CVS): Sampling tiny fingerlike projections on the placenta Can be performed earlier (10th to 12th week of pregnancy) than amniocentesis
  • 40.
    THE STORY ISN’TAS SIMPLE… There are often more than 2 alleles per gene… …but each organism can ONLY have two different alleles for a trait at any one time This is called having multiple alleles for one gene We usually express these alleles like this: E1, E2, E3, E4
  • 41.
    THE STORY ISN’TAS SIMPLE… Codominance: Both alleles are expressed at the same time
  • 42.
    THE STORY ISN’TAS SIMPLE… Incomplete dominance: two alleles are equally dominant
  • 43.
    THE STORY ISN’TAS SIMPLE…
  • 44.
    SEX-LINKED TRAITS - Traitsthat are controlled by genes located on the sex chromosomes (usually the X chromosome) Ex: Duchenne muscular dystrophy, hemophilia, Charcot-MarieTooth disease and color blindness -Usually represented like this: XR Xr
  • 45.
    SEX-LINKED TRAITS Females get2 X chromosomes: Protected by other X chromosome Males get ONE X chromosome: Disease!!!
  • 46.
    SEX-LINKED TRAITS Females get2 X chromosomes: -1 gets turned off (called a Barr Body) -some cells have one X chromosome inactive, while other cells have the other inactive
  • 47.
    GENETICS Dihybrid cross So farwhat we have done is a monohybrid cross, which only involves one trait. What if you wanted to see how two different traits are passed on to the next generation? Male RrYy x Female RrYy
  • 48.
    GENETICS Dihybrid cross So farwhat we have done is a monohybrid cross, which only involves one trait. What if you wanted to see how two different traits are passed on to the next generation? Male RrYy x Female RrYy