Genetics

Mendel
• Gregor Mendel is known as the ‘father of
genetics’ as he laid the foundations or
principles for the present day science of
genetics/inheritance.

• Mendel used garden pea(Pisum sativum) to

demonstrate that characteristics do not
blend but pass from parents to offspring
as distinct units.

• We will use Mendel’s work to help us better

understand how genetics work…but let’s
take a look at some important terms first!
Gregor Mendel and the Monohybrid Inheritance

• Before Mendel started his work, other people had given

various theories which suggested how heredity most likely
took place.
• One such theory was the blending theory of inheritance
which was believed by many people at the time. The blending
theory of inheritance states that both sexes contribute
equally to a new individual.
• The theory states that parents of contrasting appearance
always produce offspring of intermediate appearance.
For example

• This meant that when a plant with red flowers crosses with one
with white flowers, the result at all times will be a pink-flowered
plant only.
• But later on, when a pink cross with a pink and give offspring which
includes pink, red and white, they thought that the showing up of a
lot of red and white was due to the genetic material not being
stable.
• Darwin was not satisfied with this theory as his big question was: -
If the population contained intermediate individuals and normally
lacked variation then, how could diverse forms evolve?
Mendel

• In other words, he was saying that only a particulate theory of

inheritance as proposed by Mendel could account for the presence of
discrete variation [differences] among members of a population
generation after generation.
• Mendel’s work however did not help Darwin to support his theory, since
Mendel’s work remained unnoticed for many years.
• Gregor Mendel (1822-1884) was an Austrian monk and a teacher. (read up)
• He was born in Moravia.
• He joined the Augustinian monastery at Brunn in Austria [now Brno in
Czechoslovakia] where he took holy orders.
Mendel

• He then went to University of Vienna for two years where he studied natural
history and maths.
• He went back to the monastery in1853.
• Hybridization in plants and in particular, the different forms in which
hybrids and the statistical relationship between them caught his attention.
• He subsequently started his work in the summer of 1856.
• His background in mathematics most likely prompted him to add a statistical
basis to his breeding experiments.
• Mendel was not the first scientist to study heredity, but he was of course
the first to obtain sufficiently numerous accurate and detailed data upon
which sound scientific conclusions could be based.
 Gregor Mendel- Father of genetics

Do any of these look similar to what you learnt in Meiosis?

Mendel’s law:
1.Law of segregation- During gamete formation, the alleles for each gene segregate from
each other so that each gamete carries only one allele for each gene.
2.Law of independent assortment -Genes for different traits are sorted separately from
one another so that the inheritance of one trait is not dependent on the inheritance of
another.
3.Law of Dominance- In an organism with hybrid traits, the dominant allele determines
the physical features/ characteristics.
 Patterns of inheritance
THIS REFERS TO THE INFLUENCE OF INTERACTING GENES TO
PRODUCE VARYING TRAITS.

•Trait is a distinguishing feature or characteristic that is determined by

genetics.
•Gene- the locus of DNA, the basic molecular unit of inheritance
•Locus- the location of a gene on the chromosome
•Allele- two copies of a gene, One obtained from each parent
•An allele can be either dominant
or recessive. This will affect the
physical characteristics of the
organism (phenotype).
•The differences can cause
variations in the protein that’s
produced, or they can change
protein expression: when, where,
and how much protein is made.
Proteins affect traits, so variations in
protein activity or expression can
produce different phenotypes.
 Dominance versus Recessive
•A dominant allele produces a dominant phenotype in individuals who
have one copy of the allele, which can come from just one parent.
•A recessive allele can only produce a recessive phenotype if the
individual has two copies, one from each parent.
•An individual with one dominant and one recessive allele for a gene,
will have the dominant phenotype. They are generally considered
“carriers” of the recessive allele: the recessive allele is there, but the
recessive phenotype is not.
•Whether an allele is dominant, or recessive depends on the particulars of
the proteins they code for.
 How do the alleles affect the physical features?

• dominant allele + dominant allele = dominant phenotype

• dominant allele + recessive allele = dominant phenotype
• recessive allele + recessive allele = recessive phenotype
 Genotype and Phenotype
•The genetic and physical makeup of an organism or
group of organisms with reference to a single trait.

•Genotype is your complete heritable genetic

identity; it is your unique genome that would be
revealed by personal genome sequencing.
•Phenotype, as previously mentioned, is the physical
characteristics seen in organisms .
 What is the Phenotype of the organism if the
Genotype is:
• Note ‘Y’ codes for Yellow seeds; ‘y’ for Green seeds. ‘R’ for Round
seeds; ‘r’ for Wrinkled seeds.
• Yy
• Rr
• yy
• YyRr
• Yyrr
• rr
• YYRR
 Homozygosity and Heterozygosity
• When an individual has two of the same allele
whether dominant or recessive they are
homozygous. (homo-same).

• When an individual has both a dominant and

recessive allele they are termed heterozygous,
meaning one of each allele is different.
Let us practice a few

• Classify the following as Homozygous or Heterozygous:

• RR
• Rr
• yy
• YyRR
Genes come in Variations
3.16 understand that genes exist in alternative forms called alleles which give rise to differences in inherited characteristics

Sometimes more than one version of a gene occurs. The

different versions are called alleles
(i.e. we all have the gene for iris pigment (protein), but there
are different colours of iris pigment, same gene but different
alleles)
Alleles give rise to Variation
3.16 understand that genes exist in alternative forms called alleles which give rise to differences in inherited characteristics

over
view
Alleles give rise to Variation (2)
3.16 understand that genes exist in alternative forms called alleles which give rise to differences in inherited characteristics

Alleles give rise to a range of different inherited

characteristics in a population.
These can include in humans:

Eye Colour
Skin Colour
Hitch Hikers Thumb
Rolling of the tongue
Earlobe shape
Blood Type
Many many others………..
 DEFINITIONS OF INHERITANCE TERMS
3.17 understand the meaning of the terms: dominant, recessive, homozygous, heterozygous, phenotype, genotype and co-dominance

Dominant:
A gene allele that ‘expresses’ over another allele in homozygous and
heterozyogus pairs. Shown in phenotype.

B b
Recessive:
A gene allele that only ‘expresses’ when it is matched with another
recessive allele and never when matched with a dominant allele.
Homozygous Recessive. Shown in phenotype

b b
 DEFINITIONS OF INHERITANCE TERMS
3.17 understand the meaning of the terms: dominant, recessive, homozygous, heterozygous, phenotype, genotype and co-dominance

Homozygous: having identical alleles at corresponding

chromosome Loci (Gene Location).
Heterozygous: having dissimilar alleles at
corresponding chromosomal Loci.

b B B B b b
 DEFINITIONS OF INHERITANCE TERMS
3.17 understand the meaning of the terms: dominant, recessive, homozygous, heterozygous, phenotype, genotype and co-dominance
DEFINITIONS OF INHERITANCE TERMS
3.17 understand the meaning of the terms: dominant, recessive, homozygous, heterozygous, phenotype, genotype and co-dominance
 DEFINITIONS OF INHERITANCE TERMS
3.17 understand the meaning of the terms: dominant, recessive, homozygous, heterozygous, phenotype, genotype and co-dominance

Phenotype: the set of observable

characteristics
Geneotype of an individual resulting
from the interaction of its genotype with
the environment
Genotype: The genetic makeup of a
cell, an organism, or an individual with
Phenotype
reference to a specific characteristic.

Environment
 The 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. Offspring that are hybrid for a trait will
have only the dominant trait in the phenotype.

•While Mendel was crossing (reproducing) his pea

plants (over & over & over again), he noticed
something interesting.
•When he crossed pure tall plants with pure short
plants, all the new pea plants (referred to as the F1
generation) were tall.
•Similarly, crossing pure yellow seeded pea plants and
pure green seeded pea plants produced an F1
generation of all yellow seeded pea plants. The same
was true for other pea traits.
•So, what he noticed was
that when the parent plants
had contrasting forms of a
trait (tall vs short, green vs
yellow, etc.) the
phenotypes of the
offspring resembled only
one of the parent plants
with respect to that trait.
 The 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.

•Figuring he's gonna get all tall again (since tall is dominant) he takes two of the "F1"
generation (which are tall) & crosses them.. But no! Low & behold he gets some short
plants from this cross! His new batch of pea plants (the "F2" generation) is about 3/4 tall &
1/4 short.

•When you "split" the genotype letters & put one above each column & one in front of each
row, you have SEGREGATED the alleles for a specific trait. In real life this happens during
a process of cell division called "MEIOSIS". Meiosis leads to the production of gametes
(sex cells), which are either eggs or sperm. Sometimes the term "GAMETOGENESIS" is
used instead of meiosis.
 Law of Independent Assortment
•Alleles for different traits are distributed to sex cells (& offspring) independently of one another.
•Mendel noticed during all his work that the height of the plant and the shape of the seeds and the color of the pods
had no impact on one another. In other words, being tall didn't automatically mean the plants had to have green pods,
nor did green pods have to be filled only with wrinkled seeds, the different traits seem to be inherited
INDEPENDENTLY.
• A Punnet square illustrates this law. It involves what's known as a "dihybrid cross", meaning that the parents are
hybrid for two different traits.

RrGg x RrGg
where
"R" = dominant allele for round seeds
"r" = recessive allele for wrinkled seeds
"G" = dominant allele for green pods
"g" = recessive allele for yellow pods
3.17 understand the meaning of the terms: dominant, recessive, homozygous, heterozygous, phenotype, genotype and co-dominance
Genetic Diagrams - Generations
3.18 describe patterns of monohybrid inheritance using a genetic diagram

Generations
There are the parents, then their offspring, and their offspring, etc. etc.

Each generation has a name.

The first plants or animals bred together are called the Parental generation, or P1 generation.
Their offspring are called the First Filial generation, or F1 generation.
Their offspring are called the Second Filial generation, or F2 generation.

And so on. And so on.

Genetic Diagrams – Punnett Squares
3.18 describe patterns of monohybrid inheritance using a genetic diagram

SOME SIMPLE EXAMPLES OF WHAT YOU CAN

USE A PUNNETT SQUARE FOR

SEED FLOWER COLOUR GENDER

COLOUR

press
Genetic Diagrams – Punnett Squares
3.18 describe patterns of monohybrid inheritance using a genetic diagram

P1
press

P1

P1

Genotype of F2
Genetic Diagrams – Punnett Squares
3.18 describe patterns of monohybrid inheritance using a genetic diagram

How to diagram patterns in monohybrid inheritance:

1) Phenotype of Parents P1
2) Genotype of Parents
3) Gametes Produced
4) Genotype of F1 (you may need a Punnett square)
5) Phenotype of F1
6) Gametes from F1 produced
7) Genotype of F2 (you may need a Punnett square)
8) Phenotype of F2
9) What are the ratios of F2 Phenotype and Genotypes
Genetic Diagrams – Crossing
3.18 describe patterns of monohybrid inheritance using a genetic diagram

To cross two tall plants press

1. The allele for tallness is H and is dominant to that for smallness, h.

2. If the two plants are heterozygous, they will have a genotype, which contains the alleles Hh.

3. Gametes of individuals contain half of the chromosomes. So only one of the alleles will be
present in each gamete cell.
So there will be 3
tall plants for every
1 small plant. Or to
put it another way,
there is a 75%
chance that each F1
(offspring) plant will
be tall.
Monohybrid cross
•To predict the possible outcome of a breeding experiment one can use a Punnett
square. This can be done with different alleles of one gene (monohybrid cross).
•A monohybrid cross is a mating between two individuals with different alleles at
one genetic locus of interest (one trait).
DIHYBRID
CROSS
INVESTIGATING TWO TRAITS
INHERITED
A Dihybrid cross is a mating
between two individuals with
different alleles at two genetic
locus of interest (two traits
that are not linked).
 • It is not as complicated as it seems, and just
requires you paying much attention to the details
of the Punnett square.
• Let’s look at an example together:
Dihybrid Crosses
• Pea plants with round and yellow seeds are self-
mated/ crossed. Round (R) is dominant to wrinkled
(r), while yellow (Y) is dominant to green (y).
Draw a punnett square of the possible offspring of
this cross along with the phenotypic ratio obtained.
Is this what you got?
 Incomplete dominance
•Partial expression of the dominant allele in the presence of the
recessive allele (heterozygous). The result is a mixture of the
two alleles. This is most evident in plants.

•No allele is expressed over the other.

•Deviates from the norm.

• Non-mendelian trait.
CODOMINANCE
Multiple Alleles
•Mendel's work suggested that just two alleles existed for each gene.
However, this is not always the case.

EXCEPTIONS:
•BLOOD GROUPING (We look at these earlier in Animal Transport)
•POLYGENIC TRAITS

•Blood typing is actually a form/type of Co-dominance seen in humans.

Multiple alleles
 Examples of these diseases
are:

Sex linked disease

*Haemophilia

*Colour blindness
 Sex linked disease
•These diseases are often recessive and are found on sex chromosomes- X chromosomes,
affecting males more often than females.
•This is because females have two x chromosomes, that means the second functional
chromosome is able to override the recessive allele, resulting in the female being a
carrier.
•Males only have one x chromosome, so if they inherit that sex linked disease from their
mother, they will have the disease. Womp womp!!
•Take a few minutes and research colour blindness.
•How is it inherited? Is it carried on the X or Y chromosome?
*H-Normal clotting blood
h-Haemophilia

*Females can be carriers if one

parent has the disease, or develop
complete Haemophilia if both
parents have the gene.

*Males, however, can never be

carriers. They will have the
disease if only one parent carries
the gene.
 Females have two ‘X’ chromosomes and males have one ‘X’ and one ‘Y’

Therefore, male gametes: X y

Female gametes: X x
Male or Female

Therefore, there is always a 50:50 chance of having a boy/girl

Females get their ‘X’ chromosomes from both parents.

Males get their ‘X’ chromosome from their mother and their ‘Y’ from their father.