Mendelelian

Genetics

1
Gregor Mendel
(1822-1884)

Responsible
for the Laws
governing
Inheritance of
Traits

2
 Gregor Johann
Mendel
 Austrian monk
 Studied the inheritance
of traits in pea plants
 Developed the laws of
inheritance
 Mendel's work was not
recognized until the turn
of the 20th century
3
 Gregor Johann Mendel
 Between 1856 and 1863, Mendel
cultivated and tested some 28,000
pea plants
 He found that the plants' offspring
retained traits of the parents
 Called the “Father of Genetics"

4
Mendel’s Laws
of Inheritance
1. Genes In Pairs: Genetic characters are
controlled by genes that exist in pairs of
alleles in individual organisms and are
passed from parents to their offspring.
When two organisms produce offspring,
each parent gives the offspring one of the
alleles from each pair.
2. Dominance and Recessiveness: When
two unlike alleles responsible for a single
character are present in a single
individual, one allele can mask the
expression of another allele. That is, one
allele is dominant to the other. The latter
is said to be recessive.
3. The Law of Segregation: During the
formation of gametes, the paired alleles
separate (segregate) randomly so that
each gamete receives one allele or the
other.
4. The Law of Independent Assortment:
During gamete formation, segregating
pairs of alleles assort independently of
each other. Example: genes on different
chromosomes will segregate
independently. Linked genes (close
together on one chromosome) do not
follow this law.
 Rule of Dominance
• The trait that is observed in
the offspring is the dominant
trait (uppercase)
• The trait that disappears in
the offspring is the
recessive trait (lowercase)
 Law of Segregation
• The two alleles for a trait
must separate when gametes
are formed
• A parent randomly passes
only one allele for each trait
to each offspring
 Law of Independent
Assortment
• The genes for different
traits are inherited
independently of each other.
 Site of
Gregor
Mendel’s
experime
ntal
garden in
the Czech
Republic
13
 Particulate Inheritance
Mendel stated that
physical traits are
inherited as “particles”
Mendel did not know
that the “particles”
were actually
Chromosomes & DNA 14
Genetic Terminology
 Trait - any characteristic that
can be passed from parent to
offspring
 Heredity - passing of traits from
parent to offspring
 Genetics - study of heredity
15
 Types of Genetic
Crosses
 Monohybrid cross - cross involving a
single trait
e.g. flower color
 Dihybrid cross - cross involving two
traits
e.g. flower color & plant height

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 Designer “Genes”
 Alleles - two forms of a gene (dominant
& recessive)
 Dominant - stronger of two genes
expressed in the hybrid; represented
by a capital letter (R)
 Recessive - gene that shows up less
often in a cross; represented by a
lowercase letter (r)

17
 More
Terminology
 Genotype - gene combination for
a trait (e.g. RR, Rr, rr)
 Phenotype - the physical feature
resulting from a genotype (e.g.
red, white)

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 Here are the steps used to solve a
Monohybrid Mendelian Genetic Problem:
Step 1: Figure out the genotypes of the parents (Pure Dom, Hybrid, Pure
Rec) Use the Capital letter of the DOMINANT trait and then its
lower case form to represent the recessive trait.
Step 2: Figure out what kinds of gametes the parents can produce.

Step 3: Set up a Punnett Square for your mating.

Step 4: Fill in the babies inside the table by filling each square by going
Down and to the Left.

Step 5: Figure out the genotypic ratio for your predicted babies.
How Many of the offspring are--Pure Dom: Hybrid: Pure Rec
Step 6: Figure out the phenotypic ratio for your predicted babies.
How Many of the offspring are-- Dom : Rec
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Step 7: Answer the question you've been asked.
 Solving Genetics Problems I:
Monohybrid Crosses
Classical genetics is a science of logic and
statistics. While many find the latter intimidating,
the mathematical side of most classical genetics
puzzles is relatively simple — and there are
actually ways to get around most of the math.
The logic part is inescapable. All genetics
problems are solved using the same basic logic
structure. If you learn the sense of the approach,
you can solve virtually any genetics problem,
provided you are given enough basic information. 20
 Sample Problem using Steps:
This problem involves two gerbils named
Honey and Ritz. The gene in question is a
fur color gene which has two alleles —
dominant brown (B) and recessive black (b).
It's a very good idea to write down the
information you are given in a problem so
that it will be easy for you to refer to it when
necessary. So begin by writing something
like this at the top of your work page:
21
22
 Step One: Figure out the genotypes of
the parents.
Each of our parent gerbils is heterozygous for this
gene. So here is our mating:

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 Step One: Figure out what kinds of
gametes the parents can produce..
Once you've got that settled, you need to
address the question of all of the possible kinds
of babies they could produce. Before any parent
makes babies, of course, that parent makes
gametes. So in order to find what kinds of babies
they can have, you must first determine what
kinds of gametes they can produce. Since Honey
is a heterozygote (and paying attention to Rule
#1), she can produce two kinds of eggs: B eggs
and b eggs.
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Ritz is also a heterozygote, so he can
produce two kinds of sperm: B sperm and b
sperm. Something like this:

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 Step Three: Set up a Punnett Square for
your mating
Now you need to determine all the possible
ways that his sperm can combine with her
eggs. There are several different techniques
used for this operation. The most popular
among students is the Punnett Square.
Punnett Squares are probability tables — a
way to do statistics while avoiding as much
math as possible.

26
Step 4: fill in the Punnett Square,
down and to the left
Setting up a Punnett Square is easy. You need to
create a chart with one column for each of the
female's egg types, and one row for each of the
male's sperm types. For Honey and Ritz, your
table would look like this, then fill in the babies
genotype by going down and to the left:

BB Bb
Bb bb 27
Step Five: Figure out the genotypic ratio
for your predicted babies.

So we have now figured out that, if

Honey and Ritz have a lot of
babies, we can predict that 1/4 of
them should be BB, 1/2 of them
(2/4) should be Bb, and 1/4 should
be bb.

28
This conclusion is often expressed
as a genotypic ratio:1BB:2Bb:1bb.
This means that we are predicting
that, for every BB baby, they
should have 2 Bb babies (twice as
many), and one bb baby.

29
Step Six: Figure out the phenotypic ratio
for your predicted babies.
To do this, you need to ask yourself one question: do
any of these different genotypes produce the same
phenotype? In other words, do any of these babies
look alike? This is where dominance enters the picture.
If B is completely dominant to b, all gerbils with at least
one B will look pretty much alike, no matter whether
their second allele is B or b. So BB and Bb have the
same phenotype, and we can add them together.
Thus, our phenotypic ratio is 3 Brown:1 Black. Or,
there should be three times as many brown babies as
black babies.
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So the answer to our
question is, 3/4 of the babies
should be brown.

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 Step Seven: Answer the
question you've been asked.
The mating scheme we've just worked
through is called a monohybrid cross. This
means that we were paying attention to only
one gene (mono=1), and both of our parents
were heterozygous for that gene
(hybrid=heterozygous).

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Punnett Square
 Used to help
solve genetics
problems

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34
 Genotype & Phenotype in
Flowers
Genotype of alleles:
R = red flower
r = yellow flower
All genes occur in pairs, so 2
alleles affect a characteristic
Possible combinations are:
Genotypes RR Rr rr
Phenotypes RED RED YELLOW
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 Genotypes
 Homozygous genotype - gene combination
involving 2 dominant or 2 recessive genes
(e.g. RR or rr); also called pure 
 Heterozygous genotype - gene
combination of one dominant & one
recessive allele    (e.g. Rr); also called
hybrid

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Genes and Environment Determine
Characteristics

37
Mendel’s Pea
Plant
Experiments

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 Why peas, Pisum
sativum
 Can be grown in a small ?
area
 Produce lots of offspring
 Produce pure plants when
allowed to self-pollinate
several generations
 Can be artificially cross-
pollinated

39
 Reproduction in
Flowering Plants
• Pollen contains sperm
– Produced by the stamen
• Ovary contains eggs
– Found inside the flower

Pollen carries sperm to the

eggs for fertilization
Self-fertilization can
occur in the same flower
Cross-fertilization can
occur between flowers 40
 Mendel’s Experimental
Methods
• Mendel hand-pollinated•
flowers using a paintbrush
– He could snip the stamens
to prevent self-pollination
– Covered each flower with a
cloth bag
• He traced traits through the
several generations

41
 How Mendel Began
Mendel
produced
pure
strains by
allowing the
plants to
self-
pollinate
for several
generations
42
 Eight Pea Plant
•
Traits
Seed shape --- Round (R) or Wrinkled (r)
• Seed Color ---- Yellow (Y) or  Green (y)
• Pod Shape --- Smooth (S) or wrinkled (s)
• Pod Color ---  Green (G) or Yellow (g)
• Seed Coat Color ---Gray (G) or White (g)
• Flower position---Axial (A) or Terminal (a)
• Plant Height --- Tall (T) or Short (t)
• Flower color --- Purple (P) or white (p)

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44
45
Mendel’s Experimental Results

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• Did the observed ratio match the theoretical ratio?

The theoretical or expected ratio of

plants producing round or wrinkled seeds
is 3 round :1 wrinkled
Mendel’s observed ratio was 2.96:1
The discrepancy is due to statistical
error
The larger the sample the more nearly
the results approximate to the
theoretical ratio 47
 Generation “Gap”
• Parental P Generation = the parental generation in a
Parental P1 Generation = the parental generation in a
breeding experiment.
• F1 generation = the first-generation offspring in a
breeding experiment. (1st filial generation)
– From breeding individuals from the P1 generation
• F2 generation = the second-generation offspring in a
breeding experiment.
(2nd filial generation)
– From breeding individuals from the F1 generation

48
 Following the Generations

Cross 2 Results Cross 2 Hybrids

Pure in all get
Plants Hybrids 3 Tall & 1 Short
TT x tt Tt TT, Tt, tt 49
Monohybrid
Crosses
50
 P1 Monohybrid Cross
• Trait: Seed Shape
• Alleles: R – Round r – Wrinkled
• Cross: Round seeds x Wrinkled seeds: P = RR
1 x
rr

Genotype: Rr
r r
Phenotype:
Phenotype Round
R Rr Rr Genotypic
Ratio: All alike
R Rr Rr Phenotypic
Ratio: All alike 51
 P1 Monohybrid Cross
Review
 Homozygous dominant x
Homozygous recessive
 Offspring all Heterozygous (hybrids)
 Offspring called F1 generation
 Genotypic & Phenotypic ratio is ALL
ALIKE

52
F1 Monohybrid Cross
• Trait: Seed Shape
• Alleles: R – Round r – Wrinkled
• Cross: Round seeds x Round seeds: P = Rr
1

x Rr

R r
Genotype: RR, Rr, rr
R RR Rr Phenotype:
Phenotype Round &
wrinkled
r Rr rr G.Ratio: 1:2:1
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P.Ratio: 3:1
 F1 Monohybrid Cross
Review
 Heterozygous x heterozygous
 Offspring:
25% Homozygous dominant RR
50% Heterozygous Rr
25% Homozygous Recessive rr
 Offspring called F2 generation
 Genotypic ratio is 1:2:1
 Phenotypic Ratio is 3:1

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What Do the Peas Look Like?

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…And Now the Test
Cross
• Mendel then crossed a pure & a
hybrid from his F2 generation
• This is known as an F2 or test cross
• There are two possible testcrosses:
Homozygous dominant x Hybrid
Homozygous recessive x Hybrid
56
 F2 Monohybrid Cross (1st)
• Trait: Seed Shape
• Alleles: R – Round r – Wrinkled
• Cross: Pure Round seeds x Hybrid Round seeds
• P =RR x Rr

Genotype: RR, Rr
R r
Phenotype:
Phenotype Round
R RR Rr Genotypic
Ratio: 1:1
R RR Rr Phenotypic
Ratio: All alike 57
 F2 Monohybrid Cross (2nd)
• Trait: Seed Shape
• Alleles: R – Round r – Wrinkled
• Cross: Wrinkled seeds x Hybrid Round seeds =
rr x Rr

R r Genotype: Rr, rr
Phenotype:
Phenotype Round &
r Rr rr Wrinkled
G. Ratio: 1:1
r Rr rr P.Ratio: 1:1
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 F2 Monohybrid Cross
Review
 Homozygous x heterozygous(hybrid)
 Offspring:
50% Homozygous RR or rr
50% Heterozygous Rr
 Phenotypic Ratio is 1:1
 Called Test Cross because the offspring
have SAME genotype as parents

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Mendel’s Laws

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 Results of Monohybrid
Crosses
• Inheritable factors or genes are responsible
for all heritable characteristics
• Phenotype is based on Genotype
• Each trait is based on two genes, one from
the mother and the other from the father
• True-breeding individuals are homozygous
( both alleles) are the same

61
 Law of Dominance
In a cross of parents that are
pure for contrasting traits, only
one form of the trait will appear in
the next generation.
All the offspring will be
heterozygous and express only the
dominant trait.
RR x rr yields all Rr (round seeds)
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Law of Dominance

63
 Law of Segregation
• During the formation of gametes (eggs
or sperm), the two alleles responsible
for a trait separate from each other.
• Alleles for a trait are then
"recombined" at fertilization,
producing the genotype for the traits
of the offspring.
offspring

64
Applying the Law of
Segregation

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 Law of Independent
Assortment
• Alleles for different traits are
distributed to sex cells (& offspring)
independently of one another.
• This law can be illustrated using
dihybrid crosses.

66
 Sex-linked Traits
• Traits (genes) located on the sex
chromosomes
• Sex chromosomes are X and Y
• XX genotype for females
• XY genotype for males
• Many sex-linked traits carried on X
chromosome

67
 Sex-linked Traits
Example: Eye color in fruit flies
Sex Chromosomes

fruit fly
eye color

XX chromosome - female Xy chromosome - male

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 Sex-linked Trait Problem
• Example: Eye color in fruit flies
• (red-eyed male) x (white-eyed female)
XRY x XrXr
• Remember: the Y chromosome in males does not carry traits.
• RR = red eyed
• Rr = red eyed
• rr = white eyed
• XY = male
• XX = female

Xr Xr

XR

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 Sex-linked Trait
Solution:
Xr Xr
50% red eyed
XR X X X X
R r R r
female
50% white eyed
Y Xr Y Xr Y male

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Female Carriers

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 Incomplete
Dominance
and
Codominance

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 Incomplete Dominance
• F1 hybrids have an appearance somewhat in
between the phenotypes of the two parental
varieties.
• Example: snapdragons (flower)
• red (RR) x white (WW)

• RR = red flower W W
• WW = white flower
R

R
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 Incomplete
Dominance
W W
produces the
R RW RW
F1 generation
R RW RW All RW = pink
(heterozygous pink)
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 Incomplete Dominance Problem:
• In cattle when a red bull(RR) is mated with
white(WW) cow the offspring are
roan(RW) a blending of red and white.
Mate a red bull with a roan cow. Show the
P , the Punnett Square, and give the
1

genotypic and phenotypic ratios for this

cross.

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 P1 = __RR__ x __RW__

Genotypic ratio: ____ : _____ : _____

Phenotypic ratio: ____ : _____ : _____

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Incomplete Dominance

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 Codominance
• Two alleles are expressed (multiple alleles) in
heterozygous individuals.
• Example: blood type

• 1. type A = IAIA or IAi

• 2. type B = IBIB or IBi
• 3. type AB = IAIB
• 4. type O = ii

78
 Codominance
Problem
• Example:homozygous male Type B (I I ) B B

x heterozygous female Type A (IAi)

IA i

IB IAIB IBi
1/2 = IAIB
1/2 = IBi
IB IAIB IBi
79
 Another Codominance
Problem
• Example: male Type O (ii)
x
female type AB (IAIB)
IA IB

i IAi IBi 1/2 = IAi

1/2 = IBi
i IAi IBi

80
 Codominance
• Question:
If a boy has a blood type O and his
sister has blood type AB, what are
the genotypes and phenotypes of
their parents?

• boy - type O (ii) X girl - type AB (IAIB)

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 Codominance
• Answer:

IA i

IB IAIB Parents:
genotypes = IAi and IBi
phenotypes = A and B
i ii

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 Dihybrid Cross
• A breeding experiment that tracks the
inheritance of two traits.
• Mendel’s “Law of Independent
Assortment”
• a. Each pair of alleles segregates
independently during gamete formation
• b. Formula: 2n (n = # of heterozygotes)

83
 Question:
How many gametes will be produced
for the following allele arrangements?

• Remember: 2n (n = # of heterozygotes)

• 1. RrYy

• 2. AaBbCCDd

• 3. MmNnOoPPQQRrssTtQq

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 Answer:
1. RrYy: 2n = 22 = 4 gametes
RY Ry rY ry

2. AaBbCCDd: 2n = 23 = 8 gametes
ABCD ABCd AbCD AbCd
aBCD aBCd abCD abCD

3. MmNnOoPPQQRrssTtQq: 2n = 26 = 64
gametes 85
 Dihybrid Cross
• Traits: Seed shape & Seed color
• Alleles: R round
r wrinkled
Y yellow
y green
•
RrYy x RrYy

RY Ry rY ry RY Ry rY ry

All possible gamete combinations 86

Dihybrid Cross
RY Ry rY ry

RY

Ry

rY

ry

87
 Dihybrid Cross
RY Ry rY ry

RY RRYY Round/Yellow: 9
RRYy RrYY RrYy

Ry RRYy Round/green: 3
RRyy RrYy Rryy

wrinkled/Yellow: 3
rY RrYY RrYy rrYY rrYy
wrinkled/green: 1
ry RrYy Rryy rrYy rryy 9:3:3:1 phenotypic
ratio 88
Dihybrid Cross

Round/Yellow: 9
Round/green: 3
wrinkled/Yellow: 3
wrinkled/green: 1
9:3:3:1

89
 Test Cross
• A mating between an individual of unknown genotype and a
homozygous recessive individual.
• Example: bbC__ x bbcc

• BB = brown eyes
• Bb = brown eyes
• bb = blue eyes

• CC = curly hair
• Cc = curly hair
• cc = straight hair bC b___

bc

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 Test Cross

• Possible results:
bC b___
C bC b___
c

bc bbCc bbCc or bc bbCc bbcc

91
 Summary of Mendel’s laws
PARENT
LAW OFFSPRING
CROSS

DOMINANCE TT x tt 100% Tt
tall x short tall
Tt x Tt 75% tall
SEGREGATION
tall x tall 25% short
9/16 round seeds & green pods
RrGg x RrGg
INDEPENDENT 3/16 round seeds & yellow
round & green pods
ASSORTMENT 3/16 wrinkled seeds & green
x pods
round & green 1/16 wrinkled seeds & yellow
pods 92
Genetic Practice
Problems

93
Breed the P1 generation
• tall (TT) x dwarf (tt)
pea plants
t t

T
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 Solution:
tall (TT) vs. dwarf (tt) pea plants
t t

Tt Tt produces the
T
F1 generation
T Tt Tt All Tt = tall
(heterozygous tall)

95
 Breed the F1
generation
• tall (Tt) vs. tall (Tt)
pea plants
T t

t
96
 Solution:
tall (Tt) x tall (Tt) pea plants
T t
produces the
TT Tt F2 generation
T
1/4 (25%) = TT
Tt tt 1/2 (50%) = Tt
t
1/4 (25%) = tt
1:2:1 genotype
3:1 phenotype
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