Mendelian Genetics

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Gregor Mendel experimented with peas to examine how traits are passed from
one generation to the next - published results of work in 1866.

Traits that are affected by the genetic

material of an organism are said to be
heritable.

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 Alleles
 Alternate forms of a gene
 Often 2 alleles are present for any given gene; may be more than 2

• Genotype – a list of the alleles present

• Phenotype – what characteristics are expressed; what the organism
“looks” like e.g. purple flowers or white flowers

• Dominant – an allele that expresses itself regardless of what other allele is present
( FF, Ff)
• Recessive – an allele that expresses itself only when it is the only form of the gene
present (ff)

 If both alleles are identical, e.g. FF or ff, the genotype is

HOMOZYGOUS for that trait.
 If the alleles are not identical, e.g. Ff, the genotype is
HETEROZYGOUS. 3
A Trait is a particular form of a character: white flowers

A Character is a feature of an organism, such as a flower color

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In Mendel’s first experiment, he
examined monohybrid crosses:

He bred one true-breeding strain (white

flowers) with another (purple flowers)

P plants - parent plants used in cross

F1 plants (filial) are the first generation of

offspring - all had purple flowers

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• A true breeding organism, sometimes also called a pure-bred, is an
organism having certain biological traits which are passed on to all
subsequent generations when bred with another true breeding
organism for the same traits. In other words, to "breed true" means
that two organisms with a particular, heritable phenotype produce
only offspring with that (same) phenotype.

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Mendel used pea strains that were
true breeding for 7 traits
• Character Trait
• Seed coat smooth vs. wrinkled
• seed color yellow vs. green
• flower color purple vs white
• pod shape inflated vs constricted
• pod color green vs yellow
• flower location axial vs terminal
• stem size tall vs. dwarf

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Mendel then allowed the plants
to self- fertilize to form F2
plants

Some F2 flowers were white - the

allele for white flowers must
have been present in F1 but was
not expressed

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 Gene expression

• is the process by which information from a gene is used in

the synthesis of a functional gene product. These products
are often proteins, but in non-protein coding genes such as
rRNA genes or tRNA genes, the product is a functional RNA.
• The process of gene expression is used by all known life -
eukaryotes (including multicellular organisms), prokaryotes
(bacteria and archaea) and viruses - to generate the
macromolecular machinery for life.
• Several steps in the gene expression process may be
modulated, including the transcription, RNA splicing,
translation, and post-translational modification of a protein.
• Gene regulation gives the cell control over structure and
function, and is the basis for cellular differentiation,
morphogenesis and the versatility and adaptability of any
organism. 9
•In genetics, gene expression is the most
fundamental level at which genotype
gives rise to the phenotype. The
genetic code is "interpreted" by gene
expression, and the properties of the
expression products give rise to the
organism's phenotype.

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 A Dominant trait is one that will be expressed if an
individual has one copy of the DNA for the trait

A Recessive trait will only be expressed if an

individual has 2 copies of the allele

The genotype of the P generation would be P,P

for the purple flowered strain and p,p for the
white variety

The genotype of the F1 generation would

be P,p but the phenotype would be
purple

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 In Mendel’s first experiment, he noted
that the F2 generation had a ratio of 3
purple flowers to 1 white flower

When Mendel tested other characters,

he found a similar 3 to 1 ratio

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Based on this, Mendel hypothesized that each
individual has two units of inheritance (genes) for
each character

Mendel’s First Law (Law of Segregation) – when

an individual reproduces, only one member of
each pair of alleles will be transferred to each
offspring

Production of the F1

Heterozygous –

Homozygous –

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 Production of the F2

Each member of the F1 generation is

heterozygous and can donate either a P or a p to
their offspring in the F2

Punnett Square - device that shows all the

possible outcomes of a mating between two
specific individuals

Can also be used to determine expected ratios of

genotypes for offspring.
3:1

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 To gain more support for these ideas, he performed a test cross on
the F1 generation

A test cross is when you mate a

phenotypically dominant individual
(could be PP or Pp) with a pp
individual.

If any recessive offspring are produced,

the phenotypically dominant individual
must have been a heterozygote

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• In humans, one allele is inherited from ones biological father and one
allele from ones biological mother for each genetic trait. This pair of
alleles can be dominant, recessive, or hybrid. The dominant and
recessive conditions are called pure or homozygous since both genes
present are identical. The hybrid condition possesses one of each gene
type, and is called heterozygous. The genetic structure is called the
genotype.

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• Although the genotype of an individual may differ from another's, their
outward appearance for a particular trait may be identical. The outward
appearance is called the phenotype. Take for example someone who
inherits R (can roll tongue) from their mother and r (cannot roll tongue)
from their father. Their genotype is Rr. Another individual inherits an R
from both their mother and father. This individuals genotype is RR. Since
the ability to roll your tongue is dominant, both the Rr and RR
individuals will be able to roll their tongues. Hence, their phenotype is R.

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• The laws of inheritance are inherently the laws of chance. In a hybrid
x cross, (the case where the mother and father are both
heterozygous for a given trait), every offspring has a 50:50 chance of
inheriting the dominant or recessive gene. A common way of
illustrating this is with a Punnett Square:

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 Punnett Squares

• A tool for determining genotypes, phenotypes and expected ratios

in offspring

• Across the top and down the left side the possible gametes from
each parent are listed

• Matching row and column, the possible genotypes of the offspring

are listed.

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• The offspring in this example have a 50% chance of being
heterozygous for the A trait and 25% chance of being homozygous for
the recessive a and 25% chance of being homozygous for the
dominant A. Notice that the offspring have a 75% chance of having
the A phenotype.

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 gametes from mother

gametes
from
father

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Diploid genotypes - father Aa and mother Aa

gamete genotypes
A a

A
gamete
genotypes
a

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Diploid genotypes of offspring are listed in boxes

gamete genotypes

A a

A AA Aa
gamete
genotypes
a Aa aa

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Diploid genotypes of offspring are listed in boxes

gamete genotypes
A a
From these parents
we could get 3
A AA Aa different genotypes
gamete
in their offspring
genotypes
and we’d expect:
a Aa aa ¼ AA, ½ Aa and
¼ aa

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Diploid genotypes of offspring are listed in boxes

gamete genotypes
A a
From these parents
we could get 3
A AA Aa different genotypes
gamete
in their offspring
genotypes
and we’d expect:
a Aa aa ¼ AA, ½ Aa and
¼ aa

We’d get 2 different phenotypes, and expect ¾ to

have the dominant trait and ¼ the recessive trait
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What if the male was AA and the female Aa?

gamete genotypes
A a

A
gamete
genotypes
A

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 What if the male was AA and the female Aa?

gamete genotypes
A a From these parents
we could get 2
different genotypes
A AA Aa
gamete in their offspring
genotypes and we’d expect:
½ AA, ½ Aa
A AA Aa

In this example the male is homozygous (true breeding) and since it is a dominant trait all
the offspring have the same phenotype 27
 Mendel expanded his research to look at more than one character at a time and found that
each one was distributed independently.

He made dihybrid crosses - experimental matings of

individuals that were heterozygous for two
characteristics.

P1 - true breeding for 2 characters

F1s will all be YyRr

What are the possible genotypes for the gametes

produced by a YyRr?

What are the possible genotypes of the young

produced when 2 F1s mate?

What are the possible Phenotypes of the young

produced when 2 F1s mate?
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Young will have a 9:3:3:1
phenotypic ratio

Mendel’s Second Law (Law of

independent assortment) -
Alleles of different genes assort
independently of one another
during gamete formation.

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Mendel’s Second Law (Law of independent assortment) - Alleles of different
genes assort independently of one another during gamete formation.

The more
chromosomes, the
more combinations.

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Y = yellow color
y = green color
R = round
r = wrinkled

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 Determining probability of getting a specific type of offspring
Punnett Square
multiplying the probability gamete

The probability of getting a PP offspring

when 2 Pp mate
1/2 X 1/2 = 1/4

The probability of getting a purple flowered

offspring is 3/4

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 Calculating the probability of getting a certain phenotypes in a dihybrid cross is bases
on the 3/4 probability of getting the dominant phenotype

What is the probability of getting a round, yellow F2?

Probability of getting round = 3/4

Probability of getting yellow = 3/4

The probability of getting a round, yellow

offspring is 3/4 X 3/4 = 9/16

What is the probability of getting a round,

green offspring?
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 Not all traits are simple Mendelian types
Non-Medellian Genetics

• Codominance – two alleles and are both dominant; both express

themselves, in an unchanged fashion, whenever present

• Multiple Alleles – more than two alleles are present for a gene

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 Non-Medellian Genetics
• Example of Multiple Alleles and Codominance

• ABO blood type

IA – type A markers, codominant
IB – type B markers, codominant
i – no markers (type O), recessive

• Rh factor – follows Mendellian Genetics

R – Rh marker present, dominant
r – Rh marker not present, recessive

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 Incomplete dominance

• where no gene is expressed over the others. Traits will be blended

together to form an intermediate trait. An example of this is hair
color. The combination of a brown-haired gene and a blonde gene
will most likely produce light brown hair

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 Incomplete Dominance
• Red, pink and white flower color in snapdragons
CR – red flowers, incomplete dominant
CW – white flowers, incomplete dominant

Mate a red flowered plant with a white and

all the offspring have pink flowers,
CR CW
What would you get from a cross of two
pink flowered plants?

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CR CW x CR CW

CR CW

CR CR CR CR CW

CW CR CW CW CW

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 CR CW x CR CW

CR CW ¼ red, CR CR
CR CR CR CR CW ½ pink, CR CW

¼ white, CW
CW CR CW CW CW CW

Unlike completely dominant/recessive, we can recognize

the heterozygous individuals. They look different.39
Incomplete dominance – condition in which
the heterozygote is intermediate between the
two homozygotes

the CR allele produces an enzyme that

catalyzes red pigment and CW produces a
non-catalytic protein (hence, no pigment).

Heterozygotes (CR, CW) produce half as much

red pigment so the flowers are pink

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Pleiotropy – condition where a
gene effects more than one
characteristic

Epistasis – when a gene controls the expression of another

gene
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Polygenic inheritance – condition when a character is controlled by many genes. The
phenotype for each individual will be determined by the alleles at all the associated genes

Skin color in humans is polygenic, there are

over 11 genes that affect the amount of
melanin, a dark pigment, in the skin.

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Sex-liked genes – Genes carried on
the sex chromosomes
• A particularly important category of genetic linkage has to do with
the X and Y sex chromosomes. These not only carry the genes that
determine male and female traits but also those for some other
characteristics as well. Genes that are carried by either sex
chromosome are said to be sex linked.

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• Men normally have an X and a Y combination of sex chromosomes,
while women have two X's. Since only men inherit Y chromosomes,
they are the only ones to inherit Y-linked traits. Men and women can
get the X-linked ones since both inherit X chromosomes.

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Sex cell inheritance patterns for male
and female children
• X-linked recessive traits that are not related to feminine
body characteristics are primarily expressed in the
observable characteristics, or phenotype of men.
• men only have one X chromosome.
• Subsequently, genes on that chromosome not coding for
gender are usually expressed in the male phenotype even if
they are recessive since there are no corresponding genes
on the Y chromosome in most cases.
• In women, a recessive allele on one X chromosome is often
masked in their phenotype by a dominant normal allele on
the other. .
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 Sex-liked genes – Genes carried on the sex chromosomes

Each individual need an X to develop

females have an additional X
males have a Y

The chromosome donated by the father determines the

sex of the offspring

Females can be homozygous or

heterozygous for genes on the X
chromosome, males are all hemizygous
Male
The "a" recessive allele will be
expressed in his phenotype

Female
The "a" recessive allele will not
be expressed in her phenotype
• There are about 1,098 human X-linked genes. Most of them code for
something other than female anatomical traits. Many of the non-sex
determining X-linked genes are responsible for abnormal conditions
such as hemophilia , red-green color blindness, congenital night
blindness, some high blood pressure, duchene muscular dystrophy ,
and fragile-X syndrome .

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 Recessively Inherited Disorders
•A recessive allele that causes a disorder is usually a defective version of the
normal allele.
•About 1,000 genetic disorders are known to be inherited as simple recessive
traits.
•If an organism possessing one normal allele can function properly, the defective
allele in a heterozygote will have no noticeable effect.
•Recessively inherited disorders range in severity from relatively harmless
handicaps (e.g. albinism) to lethal diseases (e.g. cystic fibrosis).
•Since these disorders are caused by recessive alleles, the phenotypes occur only
in homozygous individuals (aa) who inherit one recessive allele from each
parent.
•Heterozygotes (Aa) who are phenotypically normal are called carriers and may
transmit the recessive allele to their offspring.
•The vast majority of people afflicted with recessive disorders are born to normal
parents, both of whom are carriers.
•A mating of two carriers (Aa x Aa) produces a probability of 1/4 that the zygote
will be homozygous recessive for the trait.
•A normal child from such a mating has a 2/3 probability of being a carrier.
•Recessive homozygotes could also result from Aa x aa and aa x aa matings;
however, these are unlikely especially when the disorder is lethal.
•Genetic disorders are not usually distributed evenly among all racial and
cultural groups due to the different genetic histories of the world's people
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• Cystic fibrosis is the most common lethal genetic
disease, striking 1 in every 2,500 Caucasians (it is
much rarer in other races).
• The cystic fibrosis allele causes excessive secretions
of mucus from the pancreas, lungs, and other organs
which lead to blockage of the digestive tract,
cirrhosis of the liver, pneumonia and other
infections.
• If untreated, most children with cystic fibrosis die by
the age of four or five years.
• Special diets, daily doses of antibiotics to prevent
infection, and other treatments can prolong life into
the adolescent years.
• A small percentage of patients live to adulthood. If
they reproduce, there is a 100% chance of
transmitting one copy of the cystic fibrosis allele to
their children.
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• Tay-Sachs disease has a disproportionately high incidence among
Ashkenazi Jews whose ancestors lived in central Europe.
• It occurs in about 1 of every 3,600 births. This incidence is
approximately 100 times the incidence among non-Jews and
Sephardic (Mediterranean) Jews.
• The symptoms of Tay-Sachs usually appear a few months after birth.
• Brain cells of babies with this disease are unable to metabolize
gangliosides (a type of lipid) because a crucial enzymes does not
function properly.
• These lipids accumulate in the brain and the brain cells gradually
cease to function properly.
• The infant begins to suffer seizures, blindness, and degeneration of
motor and mental performance. The child usually dies in a few years.
• The allele for this disease is called a late-acting lethal gene. Most
lethal genes usually result in death during embryonic development

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• Sickle-cell anemia is the most common inherited disease
among black, striking 1 in 500 children born
• The disease is caused by the substitution of a single amino
acid in the hemoglobin protein of red blood cells.
• The abnormal hemoglobin molecules tend to link together
and crystallize, especially when the blood oxygen content is
lower than normal. This can occur because of high altitudes,
overexertion, or reparatory ailments.
• The red blood cells deform from the normal disk-shape to a
sickle-shape as the hemoglobin molecules crystallize.
• The sickled cells clog tiny blood vessels, impeding blood flow
to body parts, creating "sickle-cell crises."
• These occurrences result in fever and severe pain (especially
in the arms and legs) which may last for hours to weeks.
• The problem is aggravated by the blockages which cause
oxygen deprivation in other parts of the system and further
sickling of cells.
• Blood transfusions can relive symptoms, but there is no cure.
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 Dominantly Inherited Disorders

• Some human disorders are inherited via dominant alleles.

• In medicine, an allele is classified as dominant if a single copy is
sufficient to significantly affect the phenotype.
• For example, hypercholesterolemia and achondroplasia (a type of
dwarfism) are classified as dominant disorders.

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• Achondroplasia affects 1 in 10,000 people who are heterozygous for
this gene (homozygous dominant condition results in spontaneous
abortion of the fetus).
• Since 99.99% of the population are homozygous recessive for this gene
(not having the condition), it illustrates well that an allele's dominance
or recessiveness does not effect its prevalence in a population. Allelic
frequencies are determined from either chance events or natural
selection favoring reproduction of one phenotype over another.
• Lethal dominant alleles are much less common than lethal recessive
alleles and usually result from new mutations in a gene of the egg or
sperm.
• Such mutations usually kill the developing embryo.
• Also, the effects of lethal dominant alleles are not masked in the
heterozygotes, who usually exhibit the disorder and do not survive to
maturity and reproduce.
• Late-acting lethal dominants can escape elimination if the disorder does
not appear until a relatively advanced age (after the afflicted individual
may have transmitted the lethal gene to its offspring).
• Huntington's disease, a degenerative disease of the nervous system, is
caused by a late-acting lethal dominant allele.

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• Newborn Screening
• In most hospitals, simple tests are routinely performed at
birth, which can detect some genetic disorders.
• Screening for phenylketonuria (PKU), a recessively
inherited disorder, is one of the most significant.
• PKU occurs in about 1 in 15,000 births
• Children with this disease cannot properly break down
the amino acid phenylalanine.
• Phenylalanine and its by-product (phenylpyruvic acid)
can accumulate in the blood to toxic levels, causing
mental retardation.
• Fetal screening for PKU can detect the deficiency in a
newborn and retardation can be prevented with a
special diet (low in phenylalanine) that allows normal
development.

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 Human disorders

• Recessive disorders:
• •Cystic fibrosis
• •Tay-Sachs
• •Sickle-cell
• Dominant disorders:
•Huntington’s
• Testing:
•amniocentesis
•chorionic villus
sampling (CVS)

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 Definition of Gene

• Many molecular definitions of a gene relate to their role in

directing the production of specific proteins. This stems from
the analysis of mutants where it was shown that the
absence of a specific protein was related to the mutation.
Proteins are key components in the central dogma as
polymerases but they also have other key metabolic roles.
These role are:
• Enzymatic
• Structural components
• Regulatory roles
• Original Concept of the Gene: One gene = one enzyme

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• Genotype – a list of the ……………………. present
• If both alleles are identical, e.g. FF or ff, the genotype is
……………………….. that trait.
• Dominant
• Recessive
• Homozygous
• Heterozygous
• P plants –are………….. plants used in cross
• F1 plants (filial) are the …………………. generation of
offspring
• A Recessive trait will only be expressed if an individual
has …… copies of the allele
• 1
• 2
• 3
• 4

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• Punnett Square - device that shows all the possible
outcomes of a mating between ….. specific
individuals
• 1
• 2
• 3
• 4
• A test cross is when you mate
• PP with a pp
• Pp with a pp
• pp with a pp
• Pp with Pp
• Mendel’s Second Law - Alleles of different genes
assort ……………… of one another during gamete
formation.

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• Mother genotype=Dd father DD- make Punnet square What is
genotype and what is phenotype
•

• Multiple Alleles……………. –

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Time to rest

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