Patterns of Inheritance

Genetics: Unveiling the Secrets of

Inheritance!
• What Are Genes and How Do They Work?
• Genes are specific sequences of DNA, each acting as a recipe to produce
proteins.
• These proteins determine your physical traits (like eye color or height) and
even biological functions (like how efficiently you metabolize food).
• Genes are located on chromosomes, which are long strands of DNA tightly
packed in the nucleus of every cell.
• How Do Genes Determine Traits?
• Eye color, hair type, flower color, and even the shape of a pea pod are all
results of specific genes working together.
• Each trait is controlled by pairs of genes—one inherited from each parent.
This is where the fascinating science of dominant and recessive traits
comes in.
How Do Genes Determine Traits?
•Eye color, hair type, flower color, and even the
shape of a pea pod are all results of specific genes
working together.
•Each trait is controlled by pairs of genes—one
inherited from each parent. This is where the
fascinating science of dominant and recessive traits
comes in.
1.Why do some traits, like brown eyes, seem
to dominate over others, like blue eyes?
2.How can you inherit traits that neither of
your parents visibly express?
3.Why do siblings often look different even
though they share the same parents?
4.How can understanding inheritance help
prevent or treat genetic diseases?
 Genetics is the study of genes
What is a gene?
A. A factor that controls a heritable characteristic
B. Something on a chromosome
C. Information stored in a segment of DNA
D. Something that encodes a protein
 Traits
•A trait is a particular feature that you can see in a person.
 Are All Traits Inherited?
• Traits influenced by the environment, like injuries or learned
skills, can't be inherited.
• Inherited traits are passed down through genes. Examples
include:
• • Eye color (blue, brown, green)
• • Blood type (A, B, AB, O)
• • Height, which can be influenced by both genes and nutrition
• Traits not inherited:
• • Scars or injuries
• • Skills like playing an instrument
• • Tattoos or haircuts
• Each trait has two versions of genes, one from your mom and
one from your dad!
 Genes are the functional unit of heredity
Each gene has a home!
It's called a locus, the exact spot on
a chromosome.
Think of genes like instructions in
a recipe book. The locus is the
page number!
For example:
• The gene for eye color is found
on chromosome 15.
• Your height might be influenced
by genes on chromosome 12 and
many others!
 Genes & Alleles

•Nature has a rich source of variation

• Here we see bean has many

seedcoat colors and patterns
in nature
 What are Alleles?
•Alleles Defined: Alleles are alternative forms of a
gene that arise through mutation and are found at
the same locus on homologous chromosomes.
•Genetic Variability: Alleles contribute to genetic
diversity within a population. For instance, while the
gene for eye color determines the general trait,
alleles specify the exact hue—blue, green, or brown.

Example:
•The Gene for Eye Color:
• The gene responsible for eye color is
located on chromosome 15. The
variations in this gene (alleles) lead to
different eye colors due to differences
in protein expression.

Genetic Identity:
•Despite a 99.9% similarity in DNA sequences
among all humans, the 0.1% variation is
responsible for the myriad of physical and
genetic traits that define individuality.
What is an allele?
 Genes & Alleles
• There can be any number of alleles for a
given gene
• an individual can have only two
alleles(one on each homologous
chromosome).
Alleles must be:
• similar enough to control the same trait
• but different enough to create different phenotypes

• A, B, O blood type in humans

 Question 1

A, B and O are _______ of the

human blood type __________.
• Genes, genes
• Genes, alleles
• Alleles, genes
• Alleles, alleles
Homozygous & Heterozygous
• Since an individual has two sets of
chromosomes, it will have two copies
of each gene (one originally coming
from each parent). These two copies
may be the same allele, or they may
be different.
– Homozygous – both alleles are the same.
– Heterozygous – two different alleles.
Understanding Chromosomal Composition
•In diploid organisms, such as humans, each individual
possesses two sets of chromosomes—one inherited from each
parent.
•As a result, they carry two copies of each gene located at
corresponding loci on homologous chromosomes.
•These two alleles can either be the same or different, leading
to two distinct genetic configurations: homozygous and
heterozygous.

•Homozygous: An individual is described as homozygous

for a gene when both alleles at a given locus are identical.
This condition can occur with two dominant alleles
(homozygous dominant) or two recessive alleles
(homozygous recessive).
•Heterozygous: An individual is heterozygous for a gene
when the two alleles at a locus are different. This genetic
configuration leads to the expression of the dominant trait
if one allele is dominant.
 How do alleles differ?

Dominant allele
Recessive allele

Recessive allele

Recessive allele

Dominant - a term applied to the trait (allele) that is expressed irregardless of the
second allele.
Recessive - a term applied to a trait that is only expressed when the second allele is
the same (e.g. short plants are homozygous for the recessive allele).
Understanding Dominance and Recessiveness
1. Definitions:
•Dominant Alleles: An allele is termed dominant if its presence in the genotype
leads to the expression of a particular phenotype, regardless of whether the other
allele is the same or different. Dominant alleles are usually denoted by uppercase
letters (e.g., A).
•Recessive Alleles: An allele is termed recessive if it is only expressed in the
phenotype when an individual is homozygous for that allele, meaning two copies
are present. Recessive alleles are typically represented by lowercase letters (e.g., a).
In the presence of a dominant allele, the effect of a recessive allele is masked.

•Widow’s Peak vs. Straight Hairline:Dominant Trait: The allele for a widow’s
peak (W) is dominant over the allele for a straight hairline (w).
• Genotypes:
• Homozygous Widow’s Peak: WW (Phenotype: Widow’s Peak)
• Heterozygous: Ww (Phenotype: Widow’s Peak)
• Homozygous Straight: ww (Phenotype: Straight Hairline)
•Real-World Implications: Individuals with at least one W allele will exhibit a
widow’s peak, while those with the genotype ww will have a straight hairline.
Genetic Disorders
•Cystic Fibrosis:
• Cystic fibrosis is an autosomal recessive disorder caused by
mutations in the CFTR gene.
• Genotypes:
• Homozygous Normal: CC (Phenotype: Normal)
• Heterozygous Carrier: Cc (Phenotype: Normal)
• Homozygous Affected: cc (Phenotype: Cystic Fibrosis)
• Observation: Individuals who inherit one normal allele (C) and one
mutated allele (c) are carriers but do not exhibit symptoms of the
disease, illustrating the recessive nature of the condition.
 Genes in Action: How Dominant and
Recessive Alleles Transform Healthcare
Solutions
•Genetic Testing and Counseling:
•Example: Understanding the inheritance patterns of recessive disorders,
such as cystic fibrosis or sickle cell disease, allows healthcare providers to
offer genetic testing to individuals who may be carriers. For instance, if both
parents are carriers (heterozygous) for cystic fibrosis, there is a 25% chance
that their child will inherit the disease (homozygous recessive). Knowledge
of these risks can guide family planning decisions.
•Pharmacogenomics:
•Example: In medicine, pharmacogenomics studies how an individual's
genetic makeup affects their response to drugs. For instance, certain
individuals may carry alleles that cause them to metabolize drugs more
quickly or slowly. Understanding dominant and recessive alleles helps in
developing personalized medicine approaches, allowing for tailored drug
prescriptions that maximize efficacy and minimize adverse effects.
 Genotype
 How the genes code for a specific trait.
 describes the combination of alleles present
in the organism’s cells.
 If the trait is dominant it uses a capital letter
 Example – Tall (T)
 If the trait is recessive it uses the same letter
but lower case
 Example – short (t)
 Genotypes always have two letters – one for
dad and one for mom
 Types of genotype
• Purebred (homozygous) dominant –
• the genes only have the dominant trait in its
code.
– Example – Dominant Tall -- TT
• Purebred (homozygous) recessive – the genes
only have the recessive trait in its code.
– Example – Recessive short – tt
• Hybrid (heterozygous) – the genes are mixed
code for that trait.
– Example – hybrid Tall -- Tt
Genotypic ratio:
A ratio that shows the probability of each of the alleles in the offspring.
 Phenotype
• The outward appearance of the
trait.
• How an organism looks
• How an organism acts
• How an organism feels
Phenotypic ratio :
A ratio that shows the probability of each of the traits in the offspring.
•Genotype – deals with
GENE CODE.
•Phenotype – deals with
looks you can take a
PHOTO with.
Phenotype vs. Genotype
Which phenotype is the same as the genotype?

If the phenotype is recessive, then the

genotype of the individual must be
homozygous recessive.
 Example: Earlobe Shape
• Phenotypes: free(E dom.) or attached(e rec.)
• Genotypes:
– EE (two alleles for free earlobes)
• Earlobes will be free
– ee (two alleles for attached earlobes)
• Earlobes will be attached
– Ee (one allele for free and one allele for attached)
• Earlobes will be free
• The free earlobe allele is dominant.
– It out-performs the attached earlobe allele.
• The attached earlobe allele is recessive.
– Masked by the dominant allele when present together
– Only expressed when two copies are present
 Question 2

Which of the following

represents the homozygous
condition?
• AA
• Aa
• aa
• Both AA and aa
 Question 3

Purple flower color in peas is

dominant over white. Which of
the following pairs of alleles
would give purple flowers?
• PP
• Pp
• pp
• Both PP and Pp
 Question 4

Now, which of the following

pairs of alleles would give white
flowers?
• PP
• Pp
• pp
• Both PP and Pp
Genetic crosses

A genetic cross is a planned mating between two

organisms.

Punnett Square.

The outcome of a given cross is predicted by a Punnett

Square.

Single-factor crosses track the inheritance of one trait such

as seed coat color
Also called monohybrid crosses

Double-factor crosses track the inheritance of two traits.

Also called dihybrid crosses
Understanding Genetic Crosses: Exploring
Inheritance
•A genetic cross is a planned mating between two
organisms to study the inheritance of specific traits.
•It allows us to predict the outcome of offspring
based on parental genes.
Critical Question:
•Why is it important to predict genetic outcomes in
fields like medicine and agriculture?
Punnett Square: A Tool for Predicting Inheritance
Content:
•The Punnett Square is a graphical tool used to predict the
possible outcomes of a genetic cross.
•It helps visualize how alleles from two parents combine in the
offspring.
Example:
•Parents: Aa x Aa
• Offspring possibilities: AA, Aa, aa
Critical Question:
•How can the use of a Punnett Square help identify the
probability of genetic disorders in humans?
 Punnett Square
Complete the Punnett square to show
the possible gene combinations for the
F2 offspring.
 The Punnett Square
◼ Parent’s gamete possibilities go out side of
the square
Sperm =>
◼ Male across
the top <= Egg

◼ Female down
the side
 The Punnett Square
◼ If we cross two heterozygous tall
◼ Tt x Tt T t
Sperm =>
◼ Sperm
possibilities <= Egg
T
◼ Egg
possibilities
t
 The Punnett Square
◼ Offspring (diploid zygote) possibilities go
inside the boxes T t
◼ Bring 1 letter down

=>
◼ Bring 1 letter over T => T T T t
◼ Capital letter first
◼ Lower case letter
second t Tt tt
 Probability
• Can be determined by completing a Punnett
Square . What are the chances of having a boy?
• Example:
X Y
Probability of first offspring
being a male: 1/2

X XX XY

X XX XY
 Probability
• Probability does not change after traits show up in
an offspring.
• Same chance still exists for every possibility of being
expressed.
X Y
Probability of first offspring
being a male: 1/2

Probability of second
1/2
X XX XY offspring being a male:

Probability of third 1/2

offspring being a male:
X XX XY
Q.
What are the phenotypes for the genotypes listed below?
Brown hair (B) is dominant to blonde (b)

BB Bb

Q.
What are the possible genotypes for the given descriptions?

Spherical seeds are dominant to wrinkled seeds

Spherical seeds Wrinkled seeds

Title: Monohybrid Crosses: Tracking a Single Trait
Content:
•Monohybrid crosses focus on the inheritance of a single
trait.
•Example: Seed coat color in pea plants (Y = yellow, y =
green)
• Parent 1: Yy
• Parent 2: Yy
• Offspring ratio: 3 Yellow : 1 Green
Punnett Square for Yy x Yy.
Critical Question:
•What do monohybrid crosses tell us about dominant and
recessive traits
Title: Dihybrid Crosses: Tracking Two Traits Simultaneously
Content:
•Dihybrid crosses involve tracking the inheritance of two
traits.
•Example: Seed color (Yellow/Green) and seed shape
(Round/Wrinkled).
• Parent Genotype: YyRr x YyRr
• 9:3:3:1 phenotypic ratio in offspring.
Visual: Punnett Square for YyRr x YyRr showing all 16
combinations.
 “ Blending” versus “Particulate”
Inheritance

• Prior to Mendel’s experiments, people

knew that offspring often showed signs
of traits from both parents. They
believed that the traits were somehow
blended at conception, but had no idea
how.

48
The blending hypothesis was thus proposed. Genetic material contributed by the two
parents mixes in a manner analogous to the way red and yellow paints blend to make
orange.

Eg,
One plant gives red flowers, one yellow -
Blending hypothesis proposes if crossed
resulting flower orange like blending paint
-
Further if orange crossed with orange all would
be orange
• Blending Hypothesis
• -Observations showed this not to be true

• -Two red plants produced yellow flowers

• -Eventually discarded because it did not explain lab observations

Mendel developed the concept of particulate inheritance,

meaning that specific genetic units were passed on to the next
generation.
We now call those units “genes.”
Mendel's work laid the foundation for our understanding of inheritance, particularly
through his experiments with pea plants. Two primary models for explaining inheritance
emerged from early genetic theories: blending inheritance and particulate inheritance.
Here’s a detailed comparison:
Blending Inheritance
1.Concept:
1. Blending inheritance is the idea that offspring are a smooth blend of the traits of
their parents. This model suggests that genetic traits mix together in a way
similar to mixing paint colors, leading to a uniform phenotype that is
intermediate between the two parents.
2.Key Characteristics:
1. Traits from both parents are averaged, leading to a loss of distinct parental traits
over generations.
2. It does not account for the re-emergence of traits in later generations.
3.Implications:
1. This model implies that variation in traits would gradually decrease over
generations, leading to a more homogenous population.
2. It cannot explain why certain traits can skip generations or reappear after being
absent in earlier generations.
4.Historical Context:
1. Before Mendel, many scientists and philosophers believed in this model, which
aligned with the observations of blending in physical characteristics (e.g., a tall
plant and a short plant producing a medium-height offspring).
Particulate Inheritance
1.Concept:
1. Particulate inheritance, as proposed by Gregor Mendel, posits that inheritance is
based on discrete units of heredity, now known as genes. These units maintain their
integrity across generations rather than blending.
2.Key Characteristics:
1. Traits are determined by alleles (dominant and recessive) that segregate
independently during gamete formation (meiosis).
2. Offspring inherit one allele from each parent, preserving the distinct traits of both.
3.Implications:
1. This model accounts for the reappearance of traits in subsequent generations and
the variation observed in offspring.
2. It explains genetic ratios observed in Mendelian crosses (e.g., 3:1 ratios in dominant-
recessive trait crosses).
4.Historical Significance:
1. Mendel’s experiments with pea plants revealed the principles of segregation and
independent assortment, which are foundational to modern genetics. His findings
were published in the 1860s but largely went unrecognized until the early 1900s
when the principles of particulate inheritance gained acceptance.
Mendel’s Pea Plant
Experiments

copyright cmassengale 53
 Gregor Mendel
• While working in his garden, Mendel
wondered why different pea plants grew
tall, while others were short.
• Some had green seeds, others yellow.
• He called all these characteristics traits.
 Gregor Mendel

• Mendel experimented with thousands of pea

plants to understand the process of heredity –
the passing down of traits through
generations.
He chose peas because:
They are easy to cultivate.
They reproduced sexually.
They have easy to distinguish
traits.
 Mendel’s Experiments

• If you look at a flower, you can see that the

petals surround two structures.
• The first is the Pistil. It produces eggs, the
female sex cell of plants.
• The second is the stamen. Stamens produce
pollen – the male sex cell. It contains sperm.
oo
 Mendel’s Experiments

 When the egg and pollen (sperm) cells join, this

is called fertilization.
 Pea plants are usually self-pollinating – meaning
they can pollinate themselves, even when they
are alone.
 Mendel developed a method to cross-pollinate –
meaning he moved the pollen from one plant to
the pistil of another. This is called “cross
pollination” or “crossed” for short.
Mendel's Experiments
1. Selection of the Organism
•Pea Plants: Mendel chose the common garden pea for his experiments because:
• They have distinct and easily observable traits (e.g., flower color, pea shape).
• They have a short generation time, allowing for multiple generations to be studied
within a relatively short period.
• Pea plants can self-fertilize, enabling controlled breeding.
2. Identifying Traits
Mendel focused on seven specific traits, each with two contrasting forms (alleles):
•Flower Color: Purple (dominant) and white (recessive)
•Flower Position: Axial (dominant) and terminal (recessive)
•Pea Shape: Round (dominant) and wrinkled (recessive)
•Pea Color: Yellow (dominant) and green (recessive)
•Pod Shape: Inflated (dominant) and constricted (recessive)
•Pod Color: Green (dominant) and yellow (recessive)
•Stem Height: Tall (dominant) and short (recessive)
Monohybrid Crosses
•Definition: A monohybrid cross involves studying a single
trait with two contrasting alleles.
•Procedure:
• Mendel began by creating pure-breeding lines for each
trait (TT for tall plants, tt for short plants).
• He cross-pollinated pure-breeding plants (e.g., TT with
tt) to create the F1 generation.
• F1 Generation: All offspring displayed the dominant
trait (e.g., all tall plants).
• Mendel then allowed the F1 generation to self-
pollinate.
• The resulting F2 generation showed a phenotypic ratio
of 3:1 (three dominant traits to one recessive trait),
demonstrating the concept of dominance.
Dihybrid Crosses
•Definition: A dihybrid cross examines the inheritance of two different
traits simultaneously.
•Procedure:
• Mendel crossed plants that were pure for two traits (e.g., TTYY
for tall yellow peas and ttyy for short green peas).
• The F1 generation displayed both dominant traits (all tall and
yellow).
• He then self-pollinated the F1 plants, leading to the F2
generation.
• The phenotypic ratio in the F2 generation was found to be
9:3:3:1:
• 9 tall yellow
• 3 tall green
• 3 short yellow
• 1 short green
•This ratio indicated that the traits assorted independently, leading to
Mendel's law of independent assortment.
Mendel’s Laws of Inheritance
From his experiments, Mendel formulated several key
principles:
1.Law of Segregation:
1. Each organism carries two alleles for each trait,
which segregate during gamete formation. Each
gamete carries only one allele for each trait.
2.Law of Independent Assortment:
1. Alleles for different traits assort independently of
one another during gamete formation, provided
that the genes are on different chromosomes.
3.Dominance:
1. Some alleles are dominant and mask the expression
of recessive alleles in heterozygous conditions.
Law of Segregation
Mendel's Law:
•The Law of Segregation states that each organism carries two
alleles for each trait, which segregate (separate) during gamete
formation. As a result, each gamete carries only one allele for
each trait.
Connection to Meiosis:
•Anaphase I of Meiosis: During meiosis, specifically in anaphase
I, homologous chromosomes (each containing one allele for a
gene) are pulled apart and segregated into different gametes.
• This separation ensures that each gamete receives only one
allele from each gene pair.
•Gamete Formation: For example, if an organism has a
genotype of Aa (where "A" is a dominant allele and "a" is a
recessive allele), during meiosis, one gamete may receive "A,"
while another may receive "a." This segregation of alleles
directly supports Mendel's Law of Segregation.
Law of Independent Assortment
Mendel's Law:
•The Law of Independent Assortment states that alleles for different traits
assort independently of one another during gamete formation.
Connection to Meiosis:
•Metaphase I of Meiosis: During meiosis, specifically in metaphase I, the
alignment of homologous chromosome pairs on the metaphase plate is
random.
•This random alignment leads to independent assortment of chromosomes
during anaphase I.
• Each pair of alleles segregates independently of other pairs.

•Example: Consider two genes, one for flower color (A/a) and another for plant
height (B/b). The alleles for these traits can be assorted independently during
gamete formation.
•This means that a gamete can receive an A allele or an a allele independently
of whether it receives a B or b allele. The resulting gametes can have
combinations like AB, Ab, aB, or ab, leading to a variety of genotypes in the
offspring.
Dominance
Mendel's Law:
•Mendel also discovered that some alleles are dominant,
meaning that they mask the expression of recessive alleles in
heterozygous conditions.
Connection to Meiosis:
•Expression of Traits: The dominance of an allele affects the
phenotype expressed in the offspring.
•During meiosis, when the alleles segregate, the dominant
allele can be expressed in the phenotype if present in a
heterozygous condition (e.g., Aa).
•The presence of a dominant allele (A) can overshadow the
recessive allele (a) in the phenotype of the organism.
 Mendel’s First Experiment
Mendel crossed purebred plants with opposite forms of a trait. He called these plants
the parental generation , or P generation. For instance, purebred tall plants were
crossed with purebred short plants.

Parent Tall Parent Short Offspring Tall

P generation P generation F1 generation

Mendel observed that all of the offspring grew to be tall plants. None resembled
the short short parent. He called this generation of offspring the first filial , or F1
generation, (The word filial means “son” in Latin.)
 Mendel’s Second Experiment
Mendel then crossed two of the offspring tall plants produced from his first
experiment.

Parent Plants Offspring

Tall 3⁄4 Tall & 1⁄4 Short

F1 generation F2 generation

Mendel called this second generation of plants the second filial, F2, generation.
To his surprise, Mendel observed that this generation had a mix of tall and short
plants. This occurred even though none of the F1 parents were short.
 The F2 Offspring
• Mendel counted the
tall and short plants.
• About 3/4ths of the
plants were tall,
while only 1/4th of
the plants were
short.
 Experiments with Other Traits

• Mendel also crossed pea plants with other

contrasting traits.
• In all of Mendel’s crosses, only one form of the
trait appeared in the F1 generation.
• However, in the F2 generation, the “lost” form
of the trait always reappeared in about 1/4th
of the plants!
 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)

• Pea plants have more than 7 observable

traits. What condition did the trait need
to meet in order for Mendel to study it?
Each trait had only two variations that were
easy to distinguish.
copyright cmassengale 71
 Dominant and Recessive Alleles
• He reasoned that
individual factors, or sets
of genetic “information,”
must control the
inheritance of traits from
peas!
• The factors must come in
PAIRS!
• One from the male
parent and one from the
female parent!
 Dominant and Recessive Alleles

• The last conclusion Mendel made was that

one factor in the pair can Mask or Hide the
other!
• In Mendel's experiments, Tallness in pea
plants masked the Short pea characteristic.
•
 Alleles in Mendel’s Crosses

• In Mendel’s cross for stem height, the

purebred tall plants in the P generation had
two alleles for tall stems.
• The purebred short plants had two alleles for
short stems.
• The F1 plants each inherited an allele for tall
stems from the tall parent and an allele for
short stems from the short parent.
Mendel’s Laws

copyright cmassengale 75
 Law of Segregation
A sperm or egg carries only one allele for each
inherited character because the two alleles for a
character segregate (separate) from each other
during the production of gametes.
• This statement is called the law of segregation.
• When sperm and egg unite at fertilization, each
contributes its alleles, restoring the paired condition in
the offspring.

© 2016 Pearson Education, Inc.

 Law of Segregation
P Generation Genetic makeup (alleles)

Purple flowers White flowers

Alleles carried PP pp
by parents
Gametes All P All p

F1 Generation
(hybrids)
Purple flowers
Alleles All Pp
segregate
1 1 p
Gametes P
2
2

F2 Generation Sperm from F1 plant

(hybrids) P p

P
Eggs from PP Pp
F1 plant
p
Pp pp
Phenotypic ratio Genotypic ratio
3 purple:1 white 1 PP:2 Pp:1 pp
The Principle of Segregation

Mendel’s first law means that, at the gene level,

the members of a pair of alleles segregate
during meiosis and that each offspring receives
only one allele from each parent.

Thus, gene segregation parallels the

separation of homologous pairs of
chromosomes at anaphase I in meiosis
 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.
PP x pp yields all Pp
(purple flowers)

copyright cmassengale 79
 Why are certain alleles dominant over
others?

Dominant allele: functional protein

Recessive allele: either no protein or the non-functional

variant…..

In heterozygotes the functional protein produced by the

dominant allele is usually sufficient for the normal cellular
needs.
•Mendel selected color and
shape of the pea seeds

•The seeds were either

yellow or green, with yellow
dominant(Y);
•in shape, they were either
round or wrinkled, with
round(W) dominant.
F1generation consisted of hybrid
offspring all with the double
dominant (round yellow)
phenotype and a heterozygous
genotype (WwYy)

F2 generation:If the
As seen in the Punnett square
inheritance of one trait did below, there should be four
not influence the inheritance different phenotypes (yellow
of the other, then: •and sixteen different and round, green and round,
yellow and wrinkled, green
•each parent should genotypes would be
and wrinkled) occurring in the
make equal numbers of equally represented in the
proportions 9:3:3:1.
the four possible gametes offspring
 Law of Independent Assortment
•Mendel’s phenotype counts of F2 seeds did
indeed show the 9:3:3:1 proportions
anticipated in the Punnett square for the
dihybrid cross.

•From these results, he concluded that the

inheritance of one trait was unrelated to the
inheritance of a second trait.

•He concluded that when the two paired

alleles of a gene pair segregate during
formation of the gametes (sperm and eggs),
this is completely independent of the
segregation of another gene pair for another
trait.

•This principle is known as the law of

independent assortment.
▪ The Test cross
▪ Some alleles are dominant over others, so the genotype of an
organism may not be apparent
▪ eg:a pea plant with purple flowers may be either homozygous
dominant,AA or heterozygous,Aa.
▪A test cross is the means by which a
scientist can determine whether an
individual with a dominant phenotype
has a homozygous (AA) or heterozygous
(Aa) dominant genotype

▪ A test cross, breeding a

homozygous recessive (aa)
with dominant phenotype,
but unknown genotype,AA or Aa, so we
can determine the identity
of the unknown allele.
 PKU

• The normal condition is to

convert phenylalanine to
tyrosine. It is dominant
over the condition for PKU.
• If both parents are
heterozygous for PKU,
what is the probability that
they will have
– A child that is normal?
– A child with PKU?
Problem 1.
A genetic cross between two F1-hybrid pea
plants for spherical seeds will yield what
percent spherical-seeded plants in the F2
generation? (spherical-shaped seeds are
dominant over dented seeds.)
A. 100%
B. 75%
D. 25%
E. 0%

Problem 2.
Predicting the dominant allele
When true-breeding tall stem pea plants are crossed
with true-breeding short stem pea plants, all of the
________ plants, and 3/4 of the __________ plants had
tall stems. Therefore, tall stems are dominant.
A. F1, F2.
B. G1, G2.
C. parental, F2.
D. F2, parental.
E. P1, P2
Soln

Crossing two heterozygotes

The parent plants are heterozygous for an

allele that determines seed shape.

We can use a Punnett square to predict the

phenotypes of their offspring.

The F1-hybrid plants have the dominant (S),

spherical seed phenotype.

In the Punnett square, we see that one out of

four possible combinations of F2-generation
plants has the homozygous recessive genotype
(ss).
 A Sample Double-factor Cross
• In humans the allele for free earlobes is
dominant over the allele for attached
earlobes.
• The allele for dark hair dominates the allele
for light hair.
• If both parents are heterozygous for earlobe
shape and hair color, what types of offspring
can they produce, and what is the probability
for each type?
Solving the Double-factor Cross
Solving the Double-factor Cross
 Codominance
• Some alleles are codominant.
– Both phenotypes are expressed together in a
heterozygote.
– This will result in three phenotypes.
– Horse color
• DR DR is chestnut color
• DW DW is white color
• DRDW is palomino-colored (chestnut with white mane
and tail)
Codominance
 Codominance
• Both _______
alleles contribute to the phenotype of
the organism by showing
up simultaneously (at the
same time) in heterozygous
individuals.
⚫ In cattle and horses, if you cross
red (RR) with a pure
a pure ____
______
white (WW), you get (RW)
which produces the color
roan
_____.
 Codominance
• These cattle or horses actually have both red
and white hairs intermixed, or are spotted.
phenotype
Roan is a third ___________.
• If you cross a roan with a white…
R W
W RW WW
roan white

W RW WW
roan white
 Incomplete Dominance

• Occurs when the phenotype of the

heterozygote is intermediate between the
two homozygotes
– Appears as if the heterozygotes are blends of
the homozygotes
• Snapdragons
– FwFw=white flower
– FrFr=red flower
– FwFr=pink flower
Incomplete Dominance
 Sample Problem:
Incomplete Dominance
• If a pink snapdragon is crossed with a white
snapdragon, what phenotypes can result?
• What is the probability of each phenotype?
 Solution Pathway:
Incomplete Dominance
 Extensions to Mendel
Polygenic inheritance occurs
when multiple genes are
involved in controlling the
phenotype of a trait.
These traits show continuous
variation and are referred
to as quantitative traits.
For example – human height

102
 James Bond Height Chart

•The combined size of all of

the body parts from head to
foot determines the height
of an individual.

• The sizes of all of these

body parts are, in turn,
determined by numerous
genes.
Examples in Humans

Weight

Height

Eye color

Intelligence

Behavior

Skin color
 Skin Color is a Polygenic Trait

• Skin color is governed by at least 3 different genes.

– Therefore, a wide variety of skin colors exist in the human
population.
•Assume that three "dominant" capital letter genes (A, B and
C) control dark pigmentation because more melanin is
produced.

•The "recessive"alleles of these three genes (a, b & c) control

light pigmentation because lower amounts of melanin are
produced
• A genotype with all "dominant" capital genes (AABBCC) has
the maximum amount of melanin and very dark skin.
•A genotype with all "recessive" small case genes (aabbcc)
has the lowest amount of melanin and very light skin.
•Each "dominant" capital gene produces one unit of color, so
that a wide range of intermediate skin colors are produced,
depending on the number of "dominant" capital genes in the
genotype.
•For example, a genotype with three "dominant" capital
genes and three small case "recessive" genes (AaBbCc) has a
medium amount of melanin and an intermediate skin color.
This latter genotype would be characteristic of a mulatto.
 Multiple Alleles

• Some traits have more than two possible alleles for a single trait.
• Example: ABO blood types
– 3 alleles for blood type antigens on red blood cells
• IA = blood type A antigens
• IB = blood type B antigens
• i = blood type O, neither type A or type B antigens
– Six possible genotypes; each individual can only have two alleles
• IAIA, IAi = Type A blood
• IBIB, IBi = Type B blood
• IBIA = Type AB blood
• Ii = Type O blood
 ABO BLOOD TYPES
• Red blood cells contain carbohydrate chains
on their plasma membranes
– “Antigens”
• Recognized by immune system’s antibodies
– A, B, and O antigens determine human blood type
• Synthesized by three alleles of a single gene
• IA, IB, and i

108
 ABO BLOOD TYPES
• The “i” gene produces an enzyme
– Glycosyl transferase
– Attaches sugar “branches” to carbohydrate “trees”
present on the surface of red blood cells
• i allele encodes a defective enzyme
– No sugar branches are attached
• IA and IB alleles encode enzymes with different
substrate specificities
– Different sugar
“branches” are
attached

109
 ABO BLOOD TYPES
• i is recessive to both IA and IB
– ii → type O blood
• IA and IB are codominant
– IAIB → AB blood
• Possesses both A and B antigens

110
 Problem: Multiple Alleles
• Show the cross between a mother who has type O
blood and a father who has type AB blood.

GENOTYPES: O O
- AO (2) BO (2) A
- ratio 1:1 AO AO
PHENOTYPES:
- type A (2); type B (2)
B BO BO
- ratio 1:1
 Sample Problem:
Multiple Alleles
• Allele A and allele B are codominant.
• Allele A and allele B are both dominant to O.
• A male heterozygous with blood type A and a
female heterozygous with blood type B have a
child.
• What are the possible phenotypes of their
offspring?
 CONDITIONAL ALLELES
• ch is a temperature-sensitive conditional allele
– Results in pigmentation only in certain parts of the
body
• Encoded enzyme functions only in cooler areas of the body
– Ends of extremities, tail, paws, nose, ears
– Similar temperature-sensitive
alleles are found in other animals
• e.g., Siamese cat

113
Extensions to Mendel

114
 Extensions to Mendel
Pleiotropy refers to an allele which has more
than one effect on the phenotype.

This can be seen in human diseases such as

cystic fibrosis or sickle cell anemia.
In these diseases, multiple symptoms can be
traced back to one defective allele.

115
 Pleiotropy
• Some genes affect a variety of phenotypes.
– These genes are called pleiotropic.
• The disease PKU results from a mutation in
one gene.
– The one defective protein leads to several
phenotypes.
• Mental retardation, abnormal growth, pale skin
pigmentation
Pleiotropic
 Linkage

• Genes that are on the same chromosome are linked.

• Linked genes are inherited together more often than
would be predicted by probability.
• All of the genes on a given chromosome represent a
linkage group.
– All of the genes in a linkage group will be inherited together.
– Crossing-over can separate linked genes and mix allele
combinations.
• The closer genes are to one another on a chromosome, the less
likely they will be separated by crossing-over, and the more likely
they will be inherited together.
 Autosomal Linkage
• Autosomes are the chromosomes that are not
involved in sex determination.
• Of the 23 pairs of human chromosomes,
1-22 are autosomes.
– Genes on the same autosomal chromosome are
autosomally linked.
• 23 are sex chromosomes.
– Called X and Y
 Sex Determination

• The sex chromosomes, X and Y, are a

homologous pair.
– This pair is unique because X and Y carry
different sets of genes.
– The Y chromosome has genes that determine
maleness.
– The X chromosome has a variety of genes on
it, many of which are not involved in gender
determination.
 Sex Linkage
• Genes on the X or Y chromosomes are called sex-linked.
– Genes on the X chromosome are called X-linked.
• Males only have one X chromosome, so one copy of a
recessive allele will result in the recessive phenotype in
men.
• Women have two copies of X, so they can be
heterozygous or carriers of a recessive trait without
showing the phenotype.
• Hemophilia, color-blindness, muscular dystrophy
• Examples of recessive sex-linked disorders:
1. colorblindness – inability to distinguish between
certain colors

You should see 58

(upper left), 18
(upper right), E
(lower left) and 17
(lower right).

Color blindness is the inability to distinguish the differences between certain colors. The most
common type is red-green color blindness, where red and green are seen as the same color.
 X-linked Inheritance Patterns

• In humans, the allele for normal color vision is dominant

and the allele for color deficiency is recessive.
• Both alleles are X-linked.
• People who cannot detect the difference between certain
colors such as green and red are described as having
color-deficient vision.
• A male who has normal color vision mates with a female
who is heterozygous for normal color vision.
• What type of children can they have in terms of these
traits?
• What is the probability for each type?
 N = normal vision
n = colorblindness XN Xn X XN Y

XN Xn
XN XNXN XNXn

Y XNY XnY
Phenotype: 2 normal vision females
1 normal vision male
1 colorblind male
 Solution Pathway:
X-linked Inheritance
Qs. The bison herd on Konza Prairie has begun to show a genetic
defect. Some of the males have a condition known as "rabbit
hock" in which the knee of the back leg is malformed slightly. We
do not yet know the genes controlling this trait but for the sake of
our question, we shall assume it is a sex-linked gene and that it is
recessive. Now, suppose that the herd bull (the dominant one
which does most of the breeding) who is normal mates with a cow
that is a carrier for rabbit hock.

a. What are his chances of producing a normal son?

b. If he mates with this cow every year, what percentage of their

daughters has normal knees?

c. What percentage of their daughters will be carriers of rabbit

hock?
Qs.A man is colorblind with the genotype XcY
The mother is not colorblind but carries a
colorblind allele.
a. What are the possible genotypes of the
children?
b. What are the possible phenotypes of the
children?

Qs Coat color in cats is a codominant trait and

is also located on the X chromosome. Cats can
be black, yellow or calico. A calico cat has
black and yellow splotches. In order to be
calico, the cat must have an allele for the
black color and an allele for the yellow color.
A female calico cat is crossed with a male
black cat. What are the phenotypes of the
offspring and in what proportion.
Environmental Influences
•The phenotype of an individual is not only the result of inheriting a
particular set of parental genes. The specific environmental characteristics
of the uterus in which a fertilized egg is implanted and the health of the
mother can have major impacts on the phenotype of the future child.

• For instance, oxygen deprivation or inappropriate hormone levels can

cause lifelong, devastating effects.
• Likewise, accidents, poor nutrition, and other environmental influences
throughout life can alter an individual's phenotype for many traits.