Mendel and the

Laws of Heredity
Objectives:
Explain the principles of Dominance, Segregation, and independent
assortment
Distinguish between dominant and recessive traits, homozygous and
heterozygous traits; and the genotype and the phenotype
Predict genotypes and phenotypes of parents and offspring using the laws of
inheritance, and
Apply Mendel’s principles in solving genetic problems on monohybrid and
dihybrid crossing
Gregor Johann Mendel
July 20 1822-January 6, 1884
 Known for Creating the
Science of Genetics
Born in a German speaking family in the Silesian part of the
Austrian Empire and gained posthumous recognition as the
Founder of the Modern Science of Genetics
Austrian Monk at the Monastery of St Thomas in Czech
Republic
High School teacher of Physics and Natural History
Spent most of his time conducting Biological Experiments
Famous on his experiments on Crosses of Garden Peas (Pisum
sativum) from 1856-1863
Before Mendel
(Early beliefs about Heredity)
Charles Robert Darwin (1809-1882): English naturalist Darwin introduced the
Theory of Natural Selection. He expressed his findings and ideas in his
famous research publication, "Origin of Species by Means of Natural
Selection" in the year 1859, after observing the living communities of
Galapagos Islands.
Charles Darwin thought that the traits from parents were transmitted to their
offspring by BLOOD, thus came the blood theory of heredity. This theory
gives rise to the expressions “bloodline” “blue blood” and “blood relative”
Early concepts about transmission of traits are now considered inaccurate as
we now know that both parents contribute hereditary traits to their
offspring and that these traits are not contained in blood but in sex cells.
 Intro to Genetics
GENETICS – branch of biology that deals with heredity and
variation of organisms.
Chromosomes carry the hereditary information (genes)
◦ Arrangement of nucleotides in DNA
◦ DNA  RNA  Proteins
Chromosomes (and genes) occur in pairs
Homologous Chromosomes
New combinations of genes occur in sexual reproduction
◦ Fertilization from two parents
Mendel’s Experiment
(why Garden Peas)
1. Garden Peas have several varieties that have observable,
contrasting characteristics

2. Garden Peas reproduce by self-pollination (they reproduce by

themselves)
Mendel’s Experiment
Findings…
Published these findings in its Scientific journal in 1866 after he reported it to
a local natural history society
His work was not appreciated until 3 scientists rediscovered his work at
around 1900
◦ Hugo de Vries, Karl Correns and Erich von Tschermak

* His achievement was only recognized after the turn of the century, many years after
his death
Definitions
Gametes: reproductive cells produced by sexually reproducing
organisms.
◦ Two types:
◦ male gametes = sperm
◦ In plants: contained in pollen
◦ Female gametes = eggs
◦ In plants: contained in ovules
◦ Ovules contained in carpels
Fertilization
Fertilization: fusion of egg and sperm
◦ Self-fertilized: fusion of sperm and egg from same plant
◦ Cross fertilized: fusion of egg and sperm from two different
plants
◦ Produced hybrids
F1: first generation
F2: second generation
Seven Contrasting Traits in Garden Peas
observed by Mendel
 Mendel’s Interpretations
Modified to incorporate today’s vocabulary
◦ Genes: the hereditary information that determines a single trait
◦ Alleles: alternate forms of a gene

When an organism inherits two identical alleles for a trait, organism is said to be homozygous for the
trait.
◦ ex. TT, rr, YY, RR, ss
When an organism inherits to different alleles for one trait, the organism is called heterozygous for the
trait.
◦ ex. Tt, Rr, Yy, Ss, Ww
Mendel stated that physical traits are inherited as “particles”
Mendel did not know that the “particles” were actually Chromosomes & DNA
 Symbols for alleles
The initial letter of the name of a recessive trait, lowercased and
italicized, denotes the recessive allele

The same letter in uppercase refers to the dominant allele

Ex. Tall (S)

Short (s)
Mendel’s Postulates or
Principles of Inheritance
1.Unit Factors in Pairs
2.Dominance/Recessiveness
3.Segregation
4.Independent Assortment
Mendel’s Postulates or
Principles of Inheritance
1. Unit Factors in Pairs (paired Unit Factors)
>Genetic characters are controlled by unit factors that exist in pairs in individual
organisms. Each individual carries a pair of factors for each trait, and they separate
from each other during fertilization.

>Mendel observed that traits did not blend, he argued that some invisible factor
must determine each of the traits he investigated.

>He termed this factor as merkmal** which means “character”

**Today, the factor that determines trait is called GENES

2. Law of Dominance/Recessiveness
If an organism inherits different alleles for the same trait, one allele may be
DOMINANT over the other.

In Mendel’s Experiment,
Why were all the seeds in the F1 generation round?
Dominant vs. Recessive Allele
Dominant: an allele that is expressed whenever it is present
Recessive: an allele that is masked whenever the dominant allele is
present.
Dominant and recessive alleles influence an organism’s phenotype
 Genotype and Phenotype
Genotype: Genetic makeup of an individual. It is determined by the alleles
present for each trait.
ex. Hh, TT, yy, Bb, Rr
Phenotype: Physical appearance of a trait. It is the expression of the genotype.
ex. Tall, long, brown, hairy, wrinkled
Can you look at someone and
determine their genotype?
Testcross is used to determine the genotype of an individual
◦ Testcross: crossing an organism with unknown genotype with one that is
homozygous recessive for the trait.
◦ Example:
◦ Plant that has round (R) seeds crossed with one that is homozygous
recessive (rr) for wrinkled seeds

R? x rr
Method of Analysis
(the use of Punnett square)
Punnett Squares- named after British geneticist Reginald C.
Punnett, the person who first devised this method of analysis
-Uses a checkerboard or table format to show the genotypes
of possible gametes from each parent. The vertical columns
represent those of the female parent, and the horizontal
rows represent those of the male parent.
- By filling out the Punnett square, we are listing all possible
random fertilization events.
 Using Punnett Squares to
Predict the Inheritance
Used to predict possible offspring genotypes
Place alleles for each parent on each side
T t

T T
Mother’s genotype Father’s genotype
TT x Tt
T = being tall T
t = short
Given parents’ genotypes, you can predict offspring’s genotypes and phenotypes
 Parent Generation: RR (Round Seeds) x rr (Wrinkled
Seeds)
Gametes: R (Female Gamete) r (Male Gametes
First filial generation (F1) Rr (Round Seeds) Self-fertilized

Gametes: R r

R RR (Round) Rr (Round)

r Rr (Round) rr(Wrinkled)

Second Filial / Generation (F2)

Genotypic ratio: 1 RR : 2 Rr : 1 rr
Phenotypic ratio: 3 Round (R_) : 1 Wrinkled (rr)
3. Law of Segregation

During the formation of gametes, the paired unit factors separate

or segregate randomly so that each gamete receives one or the
other with equal likelihood.

A parent contributes only one of its alleles for a trait to each

offspring.

If parent is heterozygous for a trait, the particular allele donated to

the offspring is random.
4. Independent Assortment

During gamete formation, segregating pairs of unit factors

assort independently of each other.

Alleles of one gene are passed to offspring independently

of the alleles of other genes.

Applies to the inheritance of two or more genes

simultaneously.
Can use the inheritance of traits in fruit flies to illustrate the
law of independent assortment.

Dihybrid cross
◦ A fertilization in which the parents differ in two distinct traits or
characteristics.
Review on Genetics terms you need to
know:
Gene – a unit of heredity; a section of DNA sequence
encoding a single protein
Genome – the entire set of genes in an organism

Alleles – two genes that occupy the same position on homologous

chromosomes and that cover the same trait (like ‘flavors’ of a trait).
Locus – a fixed location on a strand of DNA where a gene or one of its
alleles is located.
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. (represented by uppercase letters)

Recessive – an allele that is masked by a dominant allele; does not

appear in the heterozygous condition, only in homozygous.
(represented by lowercase letters)
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. e.g. flower color
Dihybrid cross - cross involving two traits
e.g. flower color & plant height
P = Parental generation
F1 = First filial generation; offspring from a genetic cross.
F2 = Second filial generation of a genetic cross
Trait - any characteristic that can be passed from parent to offspring
Heredity - passing of traits from parent to offspring
 Genotypes
Homozygous genotype - gene combination involving 2
dominant or 2 recessive genes
(e.g. RR or rr); also called pure
Heterozygous genotype - gene combination of one
dominant & one recessive allele
(e.g. Rr); also called hybrid
 Secret of the Punnett Square
Key to the Punnett Square:
Determine the gametes of each parent…
How? By “splitting” the genotypes of each parent:

If this is your cross T T  t t

The gametes are: T T t t

Once you have the
gametes…

T T  t t

t t

T Tt Tt

T Tt Tt
 Shortcut for Punnett Square…
• If either parent is HOMOZYGOUS

T T  t t

t Genotypes:
100% T t
T Tt
Phenotypes:
100% Tall plants

You only need one box!

Understanding the
shortcut…

t t
t
T Tt Tt
= T Tt
Genotypes:
T Tt Tt 100% T t

Phenotypes:
100% Tall plants
 If you have another cross…
A heterozygous with a homozygous
T t  t t
You can
still use the
shortcut! t
Genotypes:
50% T t
T Tt 50 % t t

Phenotypes:
50% Tall plants
t t t 50% Dwarf plants
Cross the F1
generation:
Pp  Pp

Genotypes:
P p 1 PP
2 Pp
1 pp
P PP Pp

Phenotypes:
p Pp pp 3 Purple
1 White
 Monohybrid cross
Parents differ by a single trait.
Crossing two pea plants that differ in stem size, one tall one short
P = allele for Tall
p = allele for dwarf

PP = homozygous tall plant

pp= homozygous dwarf plant
PP  pp
Monohybrid cross for stem
length:

TT  tt
P = parentals
true breeding, (tall) (dwarf)
homozygous plants:

Tt
F1 generation (all tall plants)
is heterozygous:
Genotype & Phenotype in
Flowers
Genotype of alleles:
R = red flower
r = yellow flower
All genes occur in pairs, so 2 alleles affect a
characteristic
Possible combinations are:

Genotypes RR Rr rr
Phenotypes RED RED YELLOW
 Following the Generations

Cross 2 Pure Results Cross 2

Plants in all Hybrids
TT x tt Hybrids get
Tt 3 Tall & 1 Short
TT, Tt, tt
 Human case: CF
Mendel’s Principles of Heredity apply universally to all
organisms.
Cystic Fibrosis: a lethal genetic disease affecting
Caucasians.
Caused by mutant recessive gene carried by 1 in 20
people of European descent (12M)
One in 400 Caucasian couples will be both carriers of
CF – 1 in 4 children will have it.
CF disease affects transport
in tissues – mucus is accumulated
in lungs, causing infections.
 Inheritance pattern of
CF
IF two parents carry the recessive gene of Cystic
Fibrosis (c), that is, they are heterozygous (C c),
one in four of their children is expected to be
homozygous for cf and have the disease:
C c
C C = normal C CC Cc
C c = carrier, no symptoms
c c = has cystic fibrosis
c Cc cc
Probabilities…
Of course, the 1 in 4 probability of getting the disease is just an
expectation, and in reality, any two carriers may have normal
children.
However, the greatest probability is for 1 in 4 children to be
affected.
Important factor when prospective parents are concerned about
their chances of having affected children.
Now, 1 in 29 Americans is a symptom-less carrier (Cf cf) of the
gene.
 Dihybrid
crosses

Matings that involve parents that differ in two genes

(two independent traits)
For example, flower color:
P = purple (dominant)
p = white (recessive)
and stem length:

T = tall t = short
Dihybrid cross: flower color and stem
length

TT PP  tt pp
(tall, purple) (short, white)

Possible Gametes for parents tp tp tp tp

TP TtPp TtPp TtPp TtPp

TP and t p
TP TtPp TtPp TtPp TtPp
TP TtPp TtPp TtPp TtPp
TP TtPp TtPp TtPp TtPp
F1 Generation: All tall, purple flowers (Tt Pp)
 Dihybrid cross: flower color
and stem length (shortcut)
TT PP  tt pp
(tall, purple) (short, white)
Possible Gametes for parents
T P
TP tp
Tt Pp
t p

F1 Generation: All tall, purple flowers (Tt Pp)

 Dihybrid cross F2
If F1 generation is allowed to self pollinate,
Mendel observed 4 phenotypes:
Tt Pp  Tt Pp
(tall, purple) (tall, purple)
TP Tp tP tp
Possible gametes:
TP Tp tP tp
TP TTPP TTPp TtPP TtPp
Tp TTPp TTpp TtPp Ttpp
tP TtPP TtPp ttPP ttPp
tp TtPp Ttpp ttPp ttpp
Four phenotypes observed
Tall, purple (9); Tall, white (3); Short, purple (3); Short white (1)
 Dihybrid
cross

9 Tall purple TP Tp tP tp

TP TTPP TTPp TtPP TtPp

Tp TTPp TTpp TtPp Ttpp
3 Tall white
tP TtPP TtPp ttPP ttPp
tp TtPp Ttpp ttPp ttpp

3 Short purple
Phenotype Ratio = 9:3:3:1
1 Short white
 Dihybrid cross: 9 genotypes
Genotype ratios (9): Four Phenotypes:
1 TTPP
Tall, purple (9)
2 TTPp
2 TtPP
4 TtPp
1 TTpp
Tall, white (3)
2 Ttpp
1 ttPP
Short, purple (3)
2 ttPp
1 ttpp Short, white (1)
 Test cross
When you have an individual with an unknown genotype, you do
a test cross.
Test cross: Cross with a homozygous recessive individual.

For example, a plant with purple flowers can either be PP or Pp…

therefore, you cross the plant with a pp (white flowers,
homozygous recessive)
P ?  pp
Summary of Genetics

Chromosomes carry hereditary info (genes)

Chromosomes (and genes) occur in pairs
New combinations of genes occur in sexual reproduction
Monohybrid vs. Dihybrid crosses
Mendel’s Principles:
◦ Dominance: one allele masks another
◦ Segregation: genes become separated in gamete formation
◦ Independent Assortment: Members of one gene pair segregate
independently from other gene pairs during gamete formation
Beyond Mendelian
Genetics: Incomplete
Dominance
Mendel was lucky!
Traits he chose in the
pea plant showed up
very clearly…
One allele was dominant over another, so
phenotypes were easy to recognize.

But sometimes phenotypes are not very obvious…

Thank You