Patterns of Inheritance

Chapter 9
 Overview

• Definitions

• Patterns of Mendelian
Inheritance

• Non-Mendelian Inheritance
 Genes:
Info in chromosomal DNA
Heritable traits passed to offspring

Diploid (2n):
Pairs of genes on pairs of homologous
chromosomes
 Alleles:
• Alternative forms of a gene
• One form usually dominant over other
• If pair is identical over many generations
= true-breeding lineage

Hybrid:
• Cross between 2 true-breeding individuals that
have non-identical alleles for trait
e.g. AA x aa = hybrid offspring
 Homozygous:
Pair of identical alleles on pair of
homologous chromosomes
e.g. A & A

Heterozygous:
Pair of non-identical alleles on pair of
homologous chromosomes
e.g. A & a
chromosome 1
from tomato
pair of
homologous
chromosomes
M locus: leaf colour
Both alleles are the same =
M
homozygous
D

D locus: plant height

Both alleles are the same =
homozygous
Bk
Bk locus: fruit shape
Alleles are different =
heterozygous
 Dominant allele (e.g. A):
Effect on trait masks effect of recessive
allele (e.g. a)
Note: dominant alleles are not necessarily
more common or “better”

Homozygous dominant genotype = AA

Homozygous recessive genotype = aa
Heterozygous genotype = Aa
 Genotype:
“Genes”
Individual’s alleles e.g. Aa

Phenotype:
“How genes are expressed”
Individual’s observable traits e.g. green
eyes
 P = true-breeding parents

F1 = 1st-generation offspring

F2 = 2nd-generation offspring of self-fertilized

or crossed (mated) F1 individuals
 Old Inheritance Theory
Hereditary material from both parents mixed at
fertilization

e.g. red flowers + white flowers = pink flower

offspring

Couldn’t explain obvious variation in traits

 Gregor Mendel & His Peas
Viennese monk who studied
botany & math

Pisum sativum: garden pea

Self-fertilizing
(flowers produce male & female
gametes that fuse to form new plant so
that parent & offspring = same traits)

Can also be cross-fertilized

Mendel tracked 7 traits over 2 generations
 Mendel’s Theory of
Segregation
Monohybrid cross:

2 homozygous parents that differ in trait

dictated by alleles of 1 gene

P F1
AA x aa  Aa
After Mendel tracked 7
traits for 2
generations, he
found that:

F2 : ¼ recessive forms
& ¾ dominant forms
of trait
 Genetics is a science of
probability
Fertilization is chance event with # of
possible outcomes

Can calculate probabilities of possible

outcomes of genetic crosses

Can determine all types of genetically

different gametes that can be produced by
male & female parents
A A A A

homozygous parent gametes

 A a A a

heterozygous parent gametes

 The Punnett Square Method
Allows prediction of both genotypes & phenotypes
of genetic crosses

A a

a
 Draw Punnett square with each row &
column labelled with one of possible
gametes of sperm & eggs respectively
A a
A
a

Fill in genotype of offspring in each box by

combining male & female gametes
A a

A AA Aa
a aA aa
 Count # offspring with each genotype &
convert to fraction of total # offspring
A a
AA = ¼
A AA Aa Aa = aA = 2/4 = ½
a aA aa aa = ¼

To determine phenotype proportions, add

fractions of genotypes that would produce
given phenotype

Phenotype I (dominant; AA & Aa) = ¼ + 2/4 = ¾

Phenotype II (recessive; aa) = ¼
So, for Mendel’s cross of F1 offspring from
monohybrid cross, he predicted:

A a
A AA Aa
a aA aa

F2 = ¼ AA, ½ Aa, ¼ aa

Phenotypic ratio = 3:1

– ¼ AA + ½ Aa = ¾ dominant phenotype
– ¼ aa = ¼ recessive phenotype
Since each gamete is
equally likely, each of
these offspring is
equally likely

Due to dominance we
see a ratio of
3 purple:1 white
 An Example

Imagine you are crossing a true breeding

plant with yellow peas & a true breeding
plant with green peas. If yellow color is
dominant:

What would the F1 generation look like?

What would the F2 look like?

 offspring genotypic phenotypic
sperm eggs genotypes ratio ratio
Dominance creates (1:2:1) (3:1)
some problems for
1 scientists
1 1 1
2 P 2 P 4
PP 4 PP

For example: These three

all look the
1 1 1
2 P
How can I know
2 p 4 Pp same!
2
which genotype I 4 Pp
have
1 if all I 1can see
P P 1
2 2 4 pP
is phenotype?

1 1 1 1 1
2 P 2
p 4 pp 4 pp 4 white
 Test cross:

Individual shows dominance for trait but

genotype is unknown

Cross with homozygous recessive

individual to see if homozygous dominant or
heterozygous
If homozygous dominant: If heterozygous:
 pollen

• Test crosses supported

Mendel’s predictions
PP or Pp pp
sperm unknown all eggs p

Mendel found that crossing F1 if PP if Pp

purple flowers with true- p egg p egg

breeding white flowers:

½ F2 = purple (Aa), ½ F2 = P 1
2
P

white (aa)

sperm
1 Pp

sperm
all Pp 2

 F1 purple flowers were

heterozygous 1
2
p

1
2 pp
 An Example
Imagine you have a plant with yellow peas but you
don’t know its genotype. Remember that yellow
is dominant to green.

What type of pea would you mate it with?

Why?

If the offspring are all yellow what does this tell

you?

Does it matter how many offspring there are?

 Mendel’s Big Ideas
Genes have alternate versions (alleles)

Organisms have two “particles” for each gene = diploid

Some alleles are “dominant” to others

(in organisms with two different alleles (heterozygous),
the dominant allele masks the recessive allele)

Alleles separate during gamete formation

= the law of segregation

Heterozygotes produce two different types of gametes

Mendel’s Theory of Segregation

2n cells have pairs of genes on pairs of

homologous chromosomes

Members of each gene pair separate during

meiosis & end up in different gametes
 Applying Mendel’s Ideas
Imagine you have mated a black guinea pig with an
albino guinea pig. They have 12 offspring & all are
black.

What alleles are dominant in this case? How do

you know?

What are the parents’ phenotypes? Genotypes?

Now imagine a cross between a different pair of
guinea pigs, one black & one albino. If they have
7 black & 5 albino offspring:

What are the parents’ genotypes? How do you

know?
 Mendel performed a lot of crosses &
sometimes he was tracking more than one
trait at a time

This let him develop one more “Big Idea”

 Mendel’s Theory of Independent
Assortment
Dihybrid cross:

True-breeding homozygous parents that differ

in 2 traits dictated by alleles of 2 genes

P F1
AABB x aabb  AaBb

F1 heterozygous for alleles of both genes

For P (AABB), gametes = AB

For P (aabb), gametes = ab

AB

ab AaBb F1 = 100% AaBb

With independent assortment, alleles for one
trait are independent of alleles for another

e.g. if you have A you are equally likely to

have B or b

This means that each of the four gametes are

equally likely
During meiosis of F1 cells, there are 4 possible
combos of alleles in sperm or eggs:
1/4 AB, Ab, aB, ab

With 4 different sperm & egg types, F2 offspring

of hybrid cross = 16 possible combos of
gametes
 AB Ab aB ab

AB AABB AABb AaBB AaBb

Ab AABb AAbb AaBb Aabb

aB AaBB AaBb aaBB aaBb

ab AaBb Aabb aaBb aabb

 e.g. with A = purple, a = white
B = tall, b = dwarf
AB Ab aB ab
AB AABB AABb AaBB AaBb
9/16 tall, purple
Ab AABb AAbb AaBb Aabb
3/16 dwarf, purple aB AaBB AaBb aaBB aaBb

3/16 tall, white ab AaBb Aabb aaBb aabb

1/16 dwarf, white

Phenotypic ratio = 9:3:3:1

 An Example

A true breeding plant with wrinkled green

seeds was mated to a true breeding plant
with smooth yellow seeds. In the first
generation all the plants had smooth yellow
seeds.

What alleles are dominant in this case?

How do you know?
 Taking these (dihybrid) F1 plants, Mendel
allowed them to self-fertilize

We could write the F1 genotypes like this:

SsYy x SsYy

What would their gametes look like?

• SY
• Sy
• sY
• sy
What would the zygotes look like? Use a Punnett Square .
 SsYy
self-fertilize

eggs
1 1 Sy 1 sY 1
4 SY 4 4 4 sy
9/16 smooth yellow
1 SY
4
3/16 smooth green
1 1 1 1
16 SSYY 16 SSYy 16 SsYY 16 SsYy
3/16 wrinkled yellow
1 Sy
4 1 1 1 1
1/16 wrinkled green
sperm

16 SSyY 16 SSyy 16 SsyY 16 Ssyy

1 sY
4
1 1 1 1 Phenotypic ratio:
16 sSYY 16 sSYy 16 ssYY 16 ssYy
9:3:3:1
1 sy
4
1 1 1 1
16 sSyY 16 sSyy 16 ssyY 16 ssyy
 Pp
self-fertilize

Remember that a
1
2 P eggs
1
2
p
monohybrid cross will
give you a 3:1 ratio
1
P
2

1 1 The 9:3:3:1 ratio is

sperm

4 PP 4 Pp
actually just two 3:1
1
ratios “stacked” on top
p
2
of each other
1 1
4 pP 4 pp
seed shape seed color phenotypic ratio
(3:1) (3:1) (9:3:3:1)
3 3 9
4 smooth x 4 yellow = 16 smooth yellow
3 1 3
4 smooth x 4 green = 16 smooth green
1 3 3
4 wrinkled x 4 yellow = 16 wrinkled yellow
1 1 1
4 wrinkled x 4 green = 16 wrinkled green
 Independent Assortment
Alleles for one trait are independent of alleles
for another

This happens because of events in

metaphase of meiosis I

Remember that chromosomes line up

independently of non-homologous
chromosomes
 S
s pairs of alleles on homologous
chromosomes in diploid cells
Y
y

chromosomes
replicate
replicated homologues
Y pair during metaphase y
S of meiosis I, S
orienting like this
or like this
s y s Y

meiosis I

S Y s y S y s Y
S Y s y S y s Y

meiosis II

S S s s S S s s
Y Y y y y y Y Y

SY sy Sy sY
Independent assortment produces four equally likely allele combinations during meiosis
 Mendel’s Big Ideas
Genes have alternate versions (alleles)

Organisms have two “particles” for each gene = diploid

Some alleles are dominant to others

(In organisms with two different alleles (heterozygous) the
dominant allele masks the recessive allele)

Alleles separate during gamete formation (the law of

segregation)
(heterozygotes produce two different types of gametes)

Alleles for one trait are independent of alleles for another

= the law of independent assortment
 Mendel’s Theory of Independent
Assortment

After meiosis, genes on each pair of

homologous chromosomes are sorted out, but
independently of how genes on other pairs of
homologous chromosomes are sorted out
Independent assortment + segregation
= genetic variation

# genotypes = 3n where n = # gene pairs

More pairs = more genotypes

 3n = 32 = 9 different genotypes

AB Ab aB ab

AB AABB AABb AaBB AaBb

Ab AABb AAbb AaBb Aabb

aB AaBB AaBb aaBB aaBb

ab
AaBb Aabb aaBb aabb
 Using Mendel’s Big Ideas

In horses grey coat colour is dominant to

chestnut. Imagine you own a grey horse & a
chestnut horse & over the years they have
several offspring, 2 chestnut & 1 grey.

Given what you know about genetics, what is the

genotype of each parent & of each offspring?
How do you know?
 Applying Mendel’s Ideas
Imagine you have mated a true-breeding tall plant
with round seeds to a true-breeding dwarf plant with
wrinkled seeds. In the F1 generation, the plants are
all tall with round seeds.

What alleles are dominant in this case?

Now imagine you have mistakenly mixed these F1

plants with some true-breeding tall round plants.
What kind of cross do you need to do to tell the
plants apart?
 A Test Cross!
You need to do a test cross on your tall round
plants.

What kind of plant will you mate your tall round plants
with?
Genotype? Phenotype?

Now predict the two possible outcomes of your

cross using a Punnett square.
 Crossing Over & Inheritance
During meiosis, crossing-over occurs between
non-sister chromatids on homologous
chromosomes

Get combos of alleles not seen in parents

Some genes stay together more often than
others because closer together

 chance that crossing over will separate

A B C D
 2 genes are closely linked when distance
between them is small
= combos of alleles usually end up in same
gamete

A B C D

When far apart, crossing over is very frequent

= genes independently assort into different
gametes
 Dependent Assortment
Genes on the same chromosome are linked

Their alleles tend to assort dependently

 flower color gene pollen shape gene

sister
chromatids

purple allele, P long allele, L homologous

chromosomes
(duplicated)
at meiosis I

sister
chromatids

red allele, p round allele, l

Copyright © 2005 Pearson Prentice Hall, Inc.

Alleles for genes on the same chromosome
assort dependently
= alleles tend to stay together during meiosis

The 4 types of gametes are not equally likely:

Two (called the parental type) are common

Two (called the recombinant type) are rare

 Dependent Assortment

How can you ever get recombinant gametes?

Remember the events of Prophase I?

Crossing-over generates recombinant gametes

 Detecting Linkage
Imagine you have mated a true breeding black guinea
pig with smooth hair to a true breeding white one
with rough hair. All the offspring are black with
rough hair.

What are the dominant alleles here?

What is the genotype of the F1?

You now mate one of your black rough F1 guinea pigs
to a white smooth one.

What are the four types of offspring that should

be produced?

What ratio would you expect them to be in if:

There isn’t linkage?
There is linkage?
What are the four types of offspring that should be
produced?

Black rough
Black smooth
White rough
White smooth
Without linkage, all are equally likely:

Black rough
Black smooth
White rough
White smooth
 With linkage:

Black smooth: more common (>25%)

White rough: more common (>25%)
Why are these the parental types?

White smooth: less common (<25%)

Black rough: less common (<25%)
Why are these the recombinant types?
 Remember the lineage of the offspring:

We mated a true-breeding black smooth guinea pig

to a true-breeding white rough to get the F1 so ...

Black smooth & white rough are together from the

parents
The lineage of the offspring determines the
parental type

Linkage is between gene loci, not alleles

Recombination constantly shuffles the alleles so

that it is only if you know the lineage of an
organism that you can predict the parental type

But you can just observe the parental type...

 An example
from fruit
flies
A grey bodied, normal
winged fly in a test
cross produces all four
offspring types but...
Four offspring are not in
equal proportions:
The rare offspring type
represent the
recombinant type
The more common
offspring represent the
parental type
You don’t really need to
know lineage to figure out
which is which
Mendel’s Big (Modified) Ideas
Genes have alternate versions (alleles)

Organisms have two “particles” for each gene: diploid

Some alleles are dominant to others (recessive)

Alleles segregate during gamete formation

Law of independent assortment

= isn’t true for linked genes (on same chromosome)
 Exceptions to the Rule

Mendel looked at traits that were either

dominant or recessive

Some traits do not follow these clear patterns

 Codominance

Pair of non-identical alleles expressed at

same time in heterozygotes
e.g. The ABO Blood System
RBCs have membrane glycolipid that
differentiate between types

Structure of glycolipid determined by

enzyme

3 alleles code for enzyme: IA, IB, i

= multiple allele system
 IA & IB are codominant when paired

i is recessive when paired with IA & IB

 IA & IB have different forms of enzyme that
attaches last sugar to glycolipid

IAIA or IAi = 1 type of sugar = blood type A

IBIB or IBi = other type of sugar = blood type B
IAIB = both sugars = blood type AB
ii = no sugar = blood type O
 Using Multiple Alleles

If a boy’s father has blood type AB & his mother has

type O, what blood types could the boy have? How
likely is each?

Imagine a young woman has type B blood & her

mother has type AB. What blood type can you rule
out for her father?
 Incomplete Dominance

1 allele not fully dominant, so both expressed in

heterozygotes

Phenotype is somewhere between 2

homozygotes
 e.g. snapdragons

True-breeding P red flowers & white flowers

produce F1 pink flowers

+
 Red flowers (AA) have 2
alleles & produce red
pigment

White flowers (aa) have 2

mutant alleles so produce
no pigment

Pink F1 (Aa) have 1 red &

1 white allele
= enough red pigment to
make pink colour, but red
allele not dominant enough
to make flowers red
Modifying Mendel’s Big Ideas

Sometimes alleles are not dominant

= heterozygote has a different phenotype

In snapdragons heterozygotes for flower color are

intermediate in phenotype (pink) to either parent

This does not mean there is a pink allele!

 Epistasis

More than 1 gene affects 1 given trait

e.g. coat colour in labs determined by 2

genes (E/e & B/b)
 Pleiotropy
1 gene affects more than 1 trait

Can have positive or negative effects

e.g. many genetic disorders, aging

e.g. SRY gene: codes for protein that
activates other genes, that code for proteins
that control male development
e.g. sickle cell anemia
Normal RBCs
 Environmental Influence
Phenotype is not just a result of genotype

Environment plays a key role in many traits

e.g. skin colour, body size, intelligence,
personality

For many traits, genes & environment play a

roughly equal role in determining phenotype

BUT: Effects of the environment are not

heritable
 Genes & the Environment

Environmental conditions can affect how

genes are expressed (i.e. variation in traits)

e.g. soil acidity (aluminum availability) &

hydrangea colour
 e.g. the Himalayan rabbit

Gene for black fur expressed in cool areas of body

(has genotype for black fur all over but pigment
only produced if < 34°C)
 What was the main idea about
inheritance prior to Mendelian
inheritance?

Blending inheritance
= offspring are a “blend” of parents
= offspring phenotype is usually in between the
phenotype of parents

We now explain this in terms of polygenic

inheritance
 Polygenic Inheritance
Individuals in population show range of small
differences in most traits
e.g. eye colour, human height, etc.

Multiple genes influence a single trait

 Polygenic inheritance
mimics blending
inheritance because of
the large number of genes
each with an additive
effect (plus environmental
effects)
 Polygenic Inheritance

Alleles for different genes act additively to build a

phenotype

Several genes influence phenotype each with a

+1 or +0 allele

So traits have a characteristic distribution pattern in

a population & offspring are often intermediate
between parents
 An Example: Wheat Grain Colour

2 genes with incompletely dominant alleles determine

wheat grain colour
= R1 & R1’ & R2 & R2’
(R alleles = 1 unit of red pigment)
(R’ alleles = no pigment)

2 heterozygous wheat plants will produce 5 colours of

offspring

Because 2 genes, are 5 possible combos of alleles:

(4 R), (3 R & 1 R’), (2 R & 2 R’), (1 R & 3 R’), (4 R’)
R alleles = +1 to colour
R’ alleles = +0 to colour
R1R1R2R2
eggs

R1R2 R1R2 R1R2 R1R2

R1R2
R1R1R2R2 R1R1R2R2  R1R1R2R2 R1R1R2R2

R1R2
sperm

R1R1R2R2  R1R1R2R2 R1R1R2R2 R1R1R2R2

R1R2
R1R1R2R2
R1R1R2R2 R1R1R2R2  R1R1R2R2 R1R1R2R2

R1R2
R1R1R1R2 R1R1R2R2 R1R1R2R2 R1R1R2R2
Imagine a couple, one with very light skin, and
one with very dark skin, have children.

What will their children’s skin colour be?

(remember this is a bit of an oversimplification
of skin color inheritance)
In polygenic
inheritance,
alleles are
influenced
by
environment
so traits
blend even
more
Distribution of all forms of trait is more continuous
when  genes & environmental factors are involved
= bell curve

Becomes harder to classify phenotypes reliably

 Example
A rooster with grey feathers is mated to a hen who
also has grey feathers. Among their offspring 15
chicks are grey, 6 are black & 8 are white.

What is the simplest explanation for this inheritance

pattern?

What phenotypes would you expect in the offspring

resulting from a cross between a grey rooster & a
black hen?
 Example

Imagine two organisms with the genotypes AABB &

aabb are bred to make a heterozygous offspring
(AaBb).

What will the offsprings’ gametes look like?

If these two genes (A & B) are linked, what would this

do to the gametes that are produced? Why?