UNIT 2: Genetic Processes

Chapter 4: Cell Division and Reproduction

Chapter 5: Patterns of Inheritance
Howaretraitsinherited,andhowcan
inheritancebepredicted?
Chapter 6: Complex Patterns of Inheritance

UNIT 2 Chapter 5: Patterns of Inheritance

5: Patterns of Inheritance
Canola (Brassica napus) is a
Canadian success story. It was
developed in a traditional selective
breeding program in the 1970s. It is
now a valuable Canadian crop that
benefits from continued modern,
molecular genetics research.

UNIT 2 Chapter 5: Patterns of Inheritance

5.1 Understanding Inheritance

While people bred animals and plants for thousands of years without understanding the mechanisms of inheritance, eventually theories and explanations of how breeding worked were proposed.
The first widely accepted theory was pangenesis, proposed by Aristotle. It suggested that sperm and egg contained tiny particles from all body parts.
Others thought that only the sperm had such an essence. In fact, it was proposed that an entire miniature human being was inside the sperm!
By the 1800s, people settled on the idea that traits from the
None of these theories was based on scientific evidence.

parents were irreversibly blended in the offspring.

Section 5.1

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.1

Gregor Mendels Experiments

Gregor Mendel (182284), an Augustinian monk, used scientific methods to solve the mystery of how traits were inherited. Before his time at the monastery, he studied botany and mathematics, which proved invaluable to his observations.

One of the keys to his discovery was the plant type he chose to work with: pea plants. Pea plants come in many varieties and show different traits (characteristics exhibited by an organism). In addition, they usually self-fertilize, which allowed Mendel to start
with plants that were true breeding (same outcome traits every generation). He carefully cross-pollinated true-breeding pea plants.

Between 1856 and 1863,

Mendel bred, tended, and
analyzed more than 28 000
pea plants in his monastery
garden.

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.1

Mendels Monohybrid Experiments

Mendel started every experiment with plants that were true breeding for a trait but that exhibited a different
form of the trait. He called this the parental, or P generation. Offspring were called the first filial (F 1)
generation. These experiments were called monohybrid crosses because only one (mono) trait was monitored
at a time. However, Mendel studied seven different traits in his experiments.

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.1

Mendels Results
Example 1: P generation of male yellow-pea-producing plant and female green-pea-producing plant
P generation cross results: All offspring (F 1 generation) were the same seed colour: yellow, i.e., one parents seed colour
trait seemed to disappear. This result was the same for each of the seven traits he studied.

Continued

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.1

Mendels Results
Example 2: F1 generation of yellow-pea producing plants
F1 generation cross results: In the F2 generation, some peas were yellow and some green. Mathematically, the ratio was 3:1
yellow:green. This ratio was the same for all seven traits that Mendel studied.

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.1

The Law of Segregation

Mendel concluded that there must be two hereditary factors for each trait. Today we call those factors alleles. Recall that diploid organisms have two alleles for each gene.
He also concluded that one factor/allele is always dominant, and one is recessive. In the example, yellow colour is dominant over green when it comes to the colour of seeds in the pea plant.
Mendel proposed the law of segregation to explain this: Traits are determined by pairs of alleles that segregate during meiosis so that each gamete receives one allele (updated terminology).

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.1

Genotype and Phenotype

To express alleles easily in written form, upper and lower case letters are used. A dominant allele is represented by the first letter of the alleles description. The recessive allele then receives
the lower case of the same letter.
Yellow pea allele: Y
Green pea allele: y
In each plant, two alleles are present so the possible combinations are:
YY, Yy, or yy. This is the plants genotype.
The actual colour of the peas is the plants phenotype.

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.1 Review

Section 5.1

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.2

5.2 Studying Genetic Crosses

The possibility of a certain allele packaged in a gamete is since there are
two alleles in a diploid cell and only one is packaged in a haploid gamete.
Thus, when determining
the possible outcomes of a
monohybrid cross, there is
X = , or a 25%
chance of each
combination of alleles in
the offspring. We use a grid
called a Punnett square to
show the law of
segregation and possible
cross outcomes.

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.2

Using Punnett Squares

A Punnett square demonstrates the possible F 1 outcomes from a cross between two
heterozygous parents. In this case, the parents are heterozygous for flower colour.
The phenotype ratio is 3:1 for flower colour (purple to white).

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.2

Test Crosses
When geneticists want to know if an individual is heterozygous or homozygous for a dominant phenotype,
they do a test cross. A test cross is a cross between an individual of unknown genotype for a trait and an
individual that is homozygous recessive for that trait. Analyzing the phenotype should provide insight into
the unknown genotype.

In a test cross, if any

of the offspring show
the recessive
phenotype, the
unknown genotype of
the parent must be
heterozygous.

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.2

Mendels Dihybrid Crosses

Mendel also designed experiments to follow the inheritance pattern of two traits to determine if the inheritance of one trait affected another.
He crossed true-breeding plants that produced yellow, round seeds (YYRR) with true-breeding plants that produced green, wrinkled seeds (yyrr). The peas in the F1
generation all displayed the dominant trait for both traits (yellow and round).

What do you think the F2 generation looked like?

Explain your answer.
Continued

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.2

Mendels Dihybrid Crosses

The F1 generation self-fertilized to create the F 2 generation. It had a mix of four phenotypes but came
close to the ratio 9:3:3:1 (yellow, round to yellow, wrinkled to green, round to green, wrinkled).

UNIT 2 Chapter 5: Patterns of Inheritance

Mendels Results
A Punnett square can show the
segregation of the gametes for two traits.
Each parent can package the alleles in the
gametes in four different ways.

Section 5.2

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.2

The Law of Independent Assortment

Mendel found the 9:3:3:1 ratio for every dihybrid cross he performed. This is expected only if the inheritance of one trait has no influence
on the inheritance of another trait. He described these events in the law of independent assortment. Using current terminology, this law
states that the alleles for one gene segregate or assort independently of the alleles for other genes during gamete formation.

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.2

The Chromosome Theory of Inheritance

When Mendel performed his experiments and formulated his laws of inheritance, the process of meiosis and the existence of chromosomes had not been discovered. By the early 1900s, scientists began to see the link between both.

Continued

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.2

The Chromosome Theory of Inheritance

In 1902, Walter Sutton showed that the behaviour of chromosomes during meiosis was related to the behaviour of Mendels factors. He realized
that during gamete formation, alleles segregate just as homologous chromosomes do, and proposed that genes are carried on chromosomes. This
formed the basis of the chromosome theory of inheritance: Genes are located on chromosomes, and chromosomes provide the basis for the
segregation and independent assortment of alleles.

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.2 Review

Section 5.2

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.3

5.3 Following Patterns of Inheritance

in Humans
Geneticists who study human inheritance collect as much information as they can and use it to create a
diagram called a pedigree. A pedigree is a type of flow chart that uses symbols to show the inheritance
patterns of traits in a family over many generations. They help uncover the genotype of a particular member
of a family, and they can be used to predict phenotypes and genotypes of future offspring.

How is human genetic research different from genetic

research on plants and animals?
Continued

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.3

Following Patterns of Inheritance in Humans

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.3

Autosomal Inheritance
Autosomalinheritancereferstotheinheritanceoftraitswhosegenesarefoundontheautosomes(chromosomes122).Thesechromosomeshold
normal,functioninggenes(haircolour,freckles)aswellasdisordergenes(cysticfibrosis,Huntingtondisease).

Anautosomaldominantdisorderoccurswhenthediseasecausingalleleisdominantandanindividualhasoneorbothcopiesoftheallele.An
autosomalrecessivedisorderoccurswhenthediseasecausingalleleisrecessiveandanindividualhasbothcopiesoftheallele.

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.3

Autosomal Inheritance
When using a pedigree to study a disorder, you can determine
if the pattern is autosomal dominant or autosomal recessive.

Huntington Disease: Autosomal Dominant

An unaffected child born of two

affected parents indicates autosomal
dominant
inheritance.

This pedigree shows the inheritance pattern

for an autosomal dominant disorder. Notice
that an affected child must have at least one
affected parent to be affected.

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.3

Autosomal Inheritance

Cystic Fibrosis: Autosomal Recessive

In autosomal recessive inheritance, if

both parents are heterozygous for the
disorder, they will have an affected child.

This pedigree shows the inheritance pattern

for an autosomal recessive disorder.
Notice that the appearance of the recessive
phenotype can skip generations, and that two
unaffected parents can have an affected
child.

UNIT 2 Chapter 5: Patterns of Inheritance

Tests for Genetic Diseases

Section 5.3

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.3

Genetic Counselling
A genetic counsellor has special training in human genetics
and in counselling. A family may seek a counsellor when
there is a history of a genetic disorder in the family.
Counsellors often use pedigrees to determine offspring risk.

UNIT 2 Chapter 5: Patterns of Inheritance

Section 5.3 Review

Section 5.3