Mendel and the Garden Pea

 The first quantitative studies of inheritance were carried

out by Gregor Mendel, an Austrian monk.
Mendel (The father of genetics)
 Born in 1822 to peasant parents, Mendel was educated in a
monastery and went on to study science and mathematics at
the University of Vienna, where he failed his examinations
for a teaching certificate.
 He returned to the monastery and spent the rest of his life
there, eventually becoming abbot.
 Mendel initiated a series of experiments on plant
hybridization.
 The results of these experiments would ultimately change
our views of heredity irrevocably.
Mendel's brilliance is unrecognized.
• On February 8, 1865, Mendel presented his work to the
Brunn Society for Natural Science. His paper,
"Experiments on Plant Hybridization," was published
the next year.
• While his work was appreciated for its thoroughness, no
one seemed to grasp its importance.
• The work was simply too ahead of its time, too contrary to
popular beliefs about heredity.
• "My time will come," Mendel once said, but it was over 30
years before his work was appreciated.
 Why Mendel Chose the Garden Pea ?
 A large number of true-breeding varieties of peas were available.
 Mendel selected lines that differed with respect to seven easily
distinguishable traits, such as:
 pea plants have a relatively short generation time.
 one can conduct experiments involving growing several generations
in a single year, and obtain results relatively quickly.
 the sexual organs of the pea are enclosed within the flower.
 The flowers of peas, like those of many flowering plants, contain
both male and female sex organs.
 Therefore, one can either let individual flowers engage in self
fertilization, or
 remove the flower’s male parts before fertilization and introduce
pollen from a strain with a different trait, thus performing cross-
pollination which results in cross-fertilization.
 Mendel’s Experimental Design

 Mendel usually conducted his experiments in three stages:

 First, he allowed pea plants of a given variety to produce progeny
by self-fertilization for several generations.

 Mendel thus was able to assure himself that the traits he

was studying were indeed constant, transmitted unchanged
from generation to generation.
 Pea plants with white flowers, for example, when crossed
with each other, produced only offspring with white
flowers, regardless of the number of generations.
 Mendel then performed crosses between varieties exhibiting
alternative forms of characters.
Figure 3.4 The contrasting characteristics of pea
plants used by Mendel in his experiments
Figure 3.6 The genetic basis of Mendel’s results from crosses
between purple-flowered pea plants and white-flowered pea plants
 He also carried out the reciprocal cross, using pollen from a
white-flowered individual to fertilize a flower on a pea plant that
produced purple flowers.
 Finally, Mendel permitted the hybrid offspring produced by
these crosses to self-pollinate for several generations.
 By doing so, he allowed the alternative forms of a character to
segregate among the progeny.
 The quantitative results Mendel obtained proved to be of
supreme importance in revealing the process of heredity.
The F1 Generation
 When Mendel crossed two contrasting varieties of peas, such as
white-flowered and purple-flowered plants, the hybrid offspring he
obtained did not have flowers of intermediate color, as the theory of
blending inheritance would predict.
 The flower color of the offspring resembled one of their parents.
 It is customary to refer to these offspring as the first filial (filius is

Latin for “son”), or F1, generation.

 in a cross of white-flowered with purple-flowered plants, the F 1

offspring all had purple flowers.

 Mendel referred to the trait expressed in the F plants as dominant and
1

to the alternative form that was not expressed in the F plants as

1

recessive.
 For each of the seven pairs of contrasting traits that Mendel
examined, one of the pair proved to be dominant and the other
recessive.
The F2 Generation
 After allowing individual F1 plants to mature and self pollinate,
Mendel collected and planted the seeds from each plant to see what
the offspring in the second filial, or F2, generation would look like.
 Believing the proportions of the F2 types would provide some clue
about the mechanism of heredity, Mendel counted the numbers of
each type among the F2 progeny.
 Approximately 1⁄4 of the F2 individuals exhibited the recessive form
of the character.
 Mendel obtained the same numerical result with the other six
characters he examined: 3⁄4 of the F2 individuals exhibited the
dominant trait, and 1⁄4 displayed the recessive trait.
 In other words, the dominant : recessive ratio among the F2 plants
was always close to 3:1.
 Mendel carried out similar experiments with other traits, such as
wrinkled versus round seeds, and obtained the same result.
 In the cross between purple-flowered plants and white-flowered
plants, we can now explain what is happening in terms of
segregation of alleles, random fertilization and the concepts of
dominant and recessive alleles.
 the symbol P represents the dominant allele for purple flowers and
p represents the recessive allele for white flowers.
 Both parents are homozygous.
 Alleles segregate and gametes contain only one of the pair.
 All F1 are heterozygous, with purple flowers as P is dominant.
 Alleles segregate and half of the gametes receive P and half p.
 The gametes fuse at random in fertilization.
 All the combinations of gametes are shown in this Punnett square.
 This represents the possible genotypes of the offspring and the ratio
in which they will occur.
Mendel explained these results in the following way:

1. Every trait (like flower colour, or seed shape, or seed colur) is

controlled by two ‘heritable factors’ these are what we now call genes.

The heritable factors (genes) may take different forms (alleles).

2. If the two alleles in an individual are different, one is dominant

(will be expressed in the organism’s appearance or physiology) and

one is recessive (cannot be expressed unless the individual has two

copies of the recessive allele).

Dominant traits mask the appearance of recessive traits.

3. The only physical link between the generations is the
gametes or sex cells.
These must pass the genes from one generation to the next.
4. The heritable factors (alleles) separate when the gametes
(sex cells) are formed; each gamete therefore contains only
one allele controlling the trait.
 CLASS WORK
1. Draw genetic diagrams to show the offspring that would result from
the following crosses. Check the table to see which trait is dominant
and which is recessive.
A. heterozygous purple flowered plants and white flowered plants
B. two white-flowered plants
C. two heterozygous tall plants
D. a heterozygous green podded plant and a yellow podded plant
You will need to make up your own symbols to represent the alleles.
 Dihybrid Cross
• A dihybrid cross is a cross between two traits of individuals at a time.
• It is a cross between two entities of two different traits such as round
seed shape-yellow pod color and wrinkled seed shape green pod color.
• The cross between round-yellow seed (RRYY) and wrinkled-green
seed (rryy) resulted in all round yellow seeds (RrYy).
• This is the F1 generation.
• The outcome of the cross between F1 generations (RrYy x RrYy)
resulted in
 round-yellow,
 wrinkled yellow,
 wrinkled-green and
 round-green, as follow.
The four phenotypes that appeared in the F and their proportions were:
2

 round and yellow 9

 round and green 3
 wrinkled and yellow 3
 wrinkled and green 1
Mendel’s Law of inheritance

• A scientific law is an evidence-based description of a

natural phenomenon in a given set of circumstances.
• Mendel’s three Laws of Heredity describe what
Mendel observed in patterns of inherited traits.

• Law of Dominance
• Law of Segregation
• Law of Independent Assortment
1. Law of Dominance:
Mendel’s law of dominance states that:
“When parents with pure, contrasting traits are
crossed together, only one form of trait appears in
the next generation.
The hybrid offsprings will exhibit only the dominant
trait in the phenotype.”
• Traits are controlled by two factors that can be
called “dominant” or “recessive.”
• A “dominant” trait shows if the offspring
inherits at least one dominant factor from one
parent.
• A “recessive” trait shows only if the offspring
inherits two recessive factors, one from each
parent.
2. Law of Segregation
Mendel’s law of segregation states that:
“During the formation of gamete, each gene separates
from each other so that each gamete carries only one
allele for each gene.”
• In modern terms, the homozygous parents in the P
generation can pass one kind of allele to their offspring.
gametes
homozygous parent
gene

A A A A

Homologous chromosomes
• The heterozygous parents of the F1 generation
have two alleles for the gene in question, and
can pass one or the other, but not both, to their
offspring.

heterozygous parent
gametes
gene

A a A a

Homologous chromosomes
Segregation of maternal and paternal alleles into
separate gametes
3. Law of Independent Assortment
• Mendel's law of independent assortment states
that the alleles of two (or more) different genes
get sorted into gametes independently of one
another.
• In other words, the allele a gamete receives for
one gene does not influence the allele received
for another gene.
• All organisms have Trait Dominant form Recessive form

multiple inheritable Seed

shape smooth wrinkled
traits controlled by Seed
genes. color yellow green
Pod
shape inflated constricted
• Each trait is Pod
color green yellow
inherited
independently of Flower
color
the others. purple white
• A pea plant may, for Flower
example, have location
at leaf
at tips of
branches
yellow seeds junctions

(dominant) but Plant

size
white flowers tall
(1.8 to
dwarf
(0.2 to 0.4
(recessive). 2 meters) meters)
• This Punnet square X
Self fertilize
shows a cross SsYy SsYy
between two pea eggs
plants which are X SY Sy sY sy
heterozygous for two
SY
traits. 1/16 SSYY 1/16 SSYy 1/16 SsYY 1/16 SsYy

sperm
Sy
• Again, the Punnet 1/16 SSyY 1/16 SSyy 1/16 SsyY 1/16 Ssyy
sY
square represents all
1/16 sSYy 1/16 ssYY 1/16 ssYy
possible 1/16 sSYY
sy
combinations of the 1/16 sSyY 1/16 sSyy 1/16 ssYy 1/16 ssyy
gametes that the
plants can donate to Phenotypic ratio (9:3:3:1)
their offspring. They S: smooth dominant 9/16 smooth yellow
must put one copys: wrinkled recessive 3/16 smooth green
of a gene for each Y: Yellow dominant
3/16 wrinkled yellow
y: green recessive
trait in their gametes. 1/16 wrinkled green
Independent assortment of alleles during
gametes formation
 4.5.4 Test Crosses
• Another cross that was introduced by Gregor Mendel is a testcross.
• Knowing the genotypes of an individual is usually an important
part of a genetic experiment.
• A test cross is used to determine the unknown genotype of an
organism by crossing with a known homozygous recessive
genotype.
• For example, when we cross a known parent of a homozygous
recessive with an unknown parent and if the dominant trait is
observed in all progenies, the unknown genotype is homozygous
dominant.
• In contrast, when we cross a known homozygous recessive and an
unknown genotype of parent and if the recessive trait is manifested
in any of their progenies, it means that the unknown genotype is
heterozygous dominant.
• For example, if you have a pea plant with a purple flower it
might be either a homozygote (PP) or a heterozygote (Pp).
• You can cross a purple flower to a white flower plant,
because you know the genotype of a white flower plant is
homozygous recessive (pp).
• If the phenotypic ratio in the F1 generation were all plants
with purple flowers, the unknown genotype of the parent
would be homozygous (PP).
• If the phenotypic ratio in the F1 generation were 1:1, the
unknown genotype of the parent would be heterozygouse
(Pp).
• The following figure shows the cross using Punnett square
Test cross All purple 2 purple: 2 white = 1:1
phenotypic ratio
• In addition, Gregor Mendel introduced a
backcross which is a cross between the F1
individual and either of the two parents.
• In a back cross, the F1 hybrid is crossed back
with any of the parents, either recessive/or
dominant.
• Homozygous – having identical genes (one from
each parent) for a particular characteristic.
• Heterozygous – having two different genes for a
particular characteristic.
• Dominant – the allele of a gene that masks or
suppresses the expression of an alternate allele;
the trait appears in the heterozygous condition.
• Recessive – an allele that is masked by a
dominant allele; does not appear in the
heterozygous condition, only in homozygous.
• Genotype – the genetic makeup of an organisms
• Phenotype – the physical appearance
of an organism (Genotype + environment)
• Monohybrid cross: a genetic cross involving a
single pair of genes (one trait); parents differ by a
single trait.
• P = Parental generation
• F1 = First filial generation; offspring from a
genetic cross.
• F2 = Second filial generation of a genetic cross
Non-Mendelian inheritance
• The non- Mendelian Inheritance is a form of
genetic Inheritance that is not in accordance
with Mendel’s law.
• Therefore, Non-Mendelian genetics are, any
inheritance patterns that don’t follow one or
more laws of the Mendelian genetics.
• Gregor Mendel explained that gene might exist
indifferent forms (alleles) that are either
dominant or recessive.
• However, there are other conditions in
which alleles show different dominance
relationships.
Examples:
• Co-dominance
• Incomplete dominance
• Gene linkage and multiple allelism.
 Co-dominance
• Co-dominance is a condition in which both
alleles are expressed equally rather than a
dominant allele taking complete control over a
recessive allele.
• This means that when an organism has two
different alleles (heterozygote), it will express
both alleles at the same time.
• Example: cross between red (RR) and white (WW)
cattle that produce ratio 1 red: 2 roans: 1 white
coat colour because of codominance.

Co-dominance dominance in the cross between red and white cattle

 Incomplete dominance
• The phenomenon in which two true-breeding
parents crossed to produce an intermediate
offspring (also known as heterozygous) is called
incomplete dominance.
• It is also referred to as partial
dominance or intermediate inheritance.
A test cross between red and white flower-bearing plants
Multiple alleles
• Gregor Mendel suggested that each gene would
have pair of factors (alleles), which are inherited
from two parents (one from each parent).
• However, some genes exist in more than two
alleles.
• Example:
• the ABO blood group system in humans
• it exists in three allelic forms: A, B, and O.
The genotye and phenotype of ABO blood groups

ABO Blood group

•The A and B blood types are Genotype Phenotype
also co-dominant. (Blood type)
•Thus, if two people with AA AA A
and BB blood type alleles
AO A
have children, every single
child (male or female) from BB B
this couple would be BO B
heterozygotes OO O
(AB) with AB blood type.
AB AB
• During blood transfusion, it is very important to determine the
antigens and antibodies present in each of the ABO blood types.

Antigens and antibodies in ABO blood types

 Rh factor inheritance in humans and its medical importance

• The Rh factor inheritance is the inheritance of a blood

group other than the ABO blood group.
• The Rh factor is inherited independently of the ABO
blood types.
• There are two different alleles for the Rh factor known
as
 Rh+ with dominant Rhesus D antigen and
 Rh- without antigen.
• People who are Rh+: possess the Rh (D) antigen and
are called Rh positive.
• People who are Rh-: do not possess the antigen and
are called Rh negative.
 Rh blood group type
Blood transfusion
Blood
Genotype Phenotype protiens
Donates Receives
(Antigen)
to from

Rh(D)
Rh+/Rh+ Rh+ Rh+ Rh+, Rh-
proteins

Rh(D)
Rh+/Rh- Rh+ Rh+ Rh+, Rh-
proteins
Rh-/Rh- Rh- None Rh- Rh-
• An Rh+ father and Rh- mother can have a child
with Rh+/ or Rh-.
• The baby with Rh+ causes Rh sensitization in the
mother because she is exposed to Rh antigen,
 which she builds up antibodies against the antigen for
the first pregnancy.
• Future pregnancies can be increasingly difficult,
as the mother's antibodies attack the baby
• However, it is possible to prevent Rh sensitization
complications by taking anti-D vaccine.
Rh sensitization during pregnancy

d y
o
t ib
an
h
i- R
nt Y
A
• Inside the womb the placenta usually acts as a
barrier between the red blood cells of the
mother and baby.
• However, even in normal pregnancies, small
amounts of the baby’s blood may cross over
into the mother’s blood stream.
 Sex-linked inheritance in humans
• Sex in human is determined by two sex
chromosomes.
• Females have two copies of the X chromosome
(XX),
• whereas males have one copy of the X
chromosome and one copy of the Y chromosome
(XY).
• Because males have only one X chromosome,
genes that are on the X chromosome are
expressed because there is no similar gene on the
corresponding Y chromosome that masks them.
• Hence, any gene on the X chromosome of male
will be expressed regardless of whether it is
dominant or recessive.
 men are far more likely to get sex-linked genetic
diseases than women .
• Hemophilia is an example of a sex-linked genetic
diseases in humans.
• This gene is carried on the X chromosome and
can only be passed on to males through their
mother.
 Father
X X Y
Mother

XH XH X XH Y

X XX XY
50 % son affected
50% daughter carrier

 In this case, the mother is a carrier of the sex-linked trait.

She does not have the diseases because her normal X chromosome
masks them.
But her son gets the disease because there is no corresponding X
chromosome on Y that masks it.
 Father
X XH Y
Mother

X XXH XY

X XXH XY

100% son normal

100% daughter carrier

 In this case, affected males will transmit the

hemophilia to all daughters, but not to sons.
Thank you!