MENDELIAN GENETICS

CHAPTER 2
HEREDITY AND PHENOTYPES
Mendelian Genetics I
(Monohybrid Cross)
 Lesson learning outcome

• Describe explanations for inheritance prior to

Mendel
• Evaluate the outcome of monohybrid cross
• Explain Mendel’s principle of segregation
• Compare the segregation of alleles with the
behavior of homologues in meiosis
• State and define all the terms used in genetics
What genetic principles account for the transmission of
such traits from parents to offspring?

1. The Blending Hypothesis of Inheritance

In the early 1800’s the blending hypothesis was proposed.

It is the idea that genetic material contributed by the two
parents mixes in a manner analogous to the way blue and
yellow paints blend to make green.

What would happen if this was the case?

2. The PARTICULATE Hypothesis of inheritance

The ‘particulate’ hypothesis is the idea that parents pass on

discrete heritable units (genes)

Mendel documented a particulate mechanism through his

experiments with garden peas
 Mendel And The Laws Of
Inheritance
• Gregor Johann Mendel (1822-1884) - father
of genetics
• Austrian monk
• Conducted landmark studies from
1856-1864, - thousands of crosses
• Kept meticulously accurate records that
included quantitative analysis – “
Experiments on Plants Hybrids” (1866).
Monohybrid
The Law of Segregation
Mendel Choose Pea Plants as
His Experimental Organism
• Hybridization
– The mating or crossing between two individuals that
have different characteristics
• Purple-flowered plant X white-flowered plant
• Hybrids
– The offspring that result from such a mating
– Presumed to be a blending of the parent traits
– Often observed to be different than either parent

• Mendel observed them to be like one of the parents with

respect to some traits – no blending
Why Mendel choose peas
• Advantages of pea plants for genetic study:
- There are many varieties with distinct heritable
features or characters/traits (such as flower
color); character variants (such as purple or
white flowers).
- Mating of plants can be controlled
- Each pea plants has sperm-producing organs
(stamens) and egg-producing organs (carpels)
- Cross-pollination (fertilization between
different plants) can be achieved by dusting one
plant with pollen from another
 Mendel Studied Seven Traits
That Bred True

• The morphological characteristics of an

organism are termed characters or traits

• A variety that produces the same trait over

and over again is termed a true-breeder
 The seven traits
Mendel examined in
crosses
True Breeding
• Mendel used varieties that were
true-breeding (plants that produce
offspring of the same variety when
they self-pollinate)
• True breeding plant’s trait did not
vary in appearance from generation
to generation
• If they were to be self-fertilize, all of
their offspring would also produce
the same trait
 Mendel’s Experiments

• Crossed two variants differing in only one

trait – a monohybrid cross
• Produce single-trait hybrids - monohybrids
 F2 plants
4. Collect the seeds and plant
them the following spring to
obtain the F2 generation plants

Tall Tall Dwarf Tall

DATA FROM MENDEL’S MONOHYBRID CROSSES

P Cross F1 generation F2 generation Ratio

Tall X All tall 787 tall, 2.84:1
dwarf stem 277 dwarf
Round X All round 5,474 round, 2.96:1
wrinkled seeds 1,850 wrinkled
Yellow X All yellow 6,022 yellow, 3.01:1
Green seeds 2,001 green
Purple X All purple 705 purple, 3.15:1
white flowers 224 white
Axial X All axial 651 axial, 3.14:1
terminal flowers 207 terminal
Smooth X All smooth 882 smooth, 2.95:1
constricted pods 229 constricted
Green X All green 428 green, 2.82:1
yellow pods 152 yellow
 Interpreting the Data
• For all seven traits studied
1. The F1 generation showed only one of the two
parental traits
2. The F2 generation showed an ~ 3:1 ratio of the
two parental traits

• These results refuted a blending mechanism

of heredity
 Interpreting the Data

• Data suggested a particulate theory of

inheritance

• Mendel postulated the following:

 Law of Segregation
1. A pea plant contains two discrete hereditary
factors, one from each parent
2. The two factors may be identical or different
3. When the two factors of a single trait are
different
– One is dominant and its effect can be seen
– The other is recessive and is masked

4. During gametogenesis (meiosis), the paired

factors segregate randomly so that half of the
gametes received one factor and half of the
gametes received the other
This is Mendel’s Law of Segregation
Tt x Tt
 Review a few modern terms
• Mendelian factors are now called genes
• Alleles are different versions of the same gene
• An individual with two identical alleles is termed
homozygous
• An individual with two different alleles, is termed
heterozygous
• Genotype refers to the specific allelic composition
of an individual
• Phenotype refers to the outward appearance of an
individual
 Gene 1 – flower color

A @ a
Dominant Recessive
Genotype Genotype
Homozygous dominant; AA Homozygous recessive; aa
Heterozygous; Aa

Phenotype Phenotype
Crossing between true-breeding
pea plant (flower color)
1. Genotype of both parents
– Male parent = AA (purple)
– Female parent = aa (white)

2. Write down the possible gametes each

parent can make.
– Male gametes: A
– Female gametes: a
P: AA x aa

G: A a

F1: Aa

F2?
F1XF1 : Aa x Aa

G: A a A a

F2: AA Aa Aa aa

Genotype ratio = 1:2:1

Phenotype ratio = 3:1
 Punnett Squares

• A Punnett square is a grid that enables

one to predict the outcome of simple
genetic crosses

• Proposed by the English geneticist,

Reginald Punnett
Punnett Squares
1. Write down the genotypes of both
parents
– Male parent = Tt
– Female parent = Tt

2. Write down the possible gametes each

parent can make.
– Male gametes: T or t
– Female gametes: T or t
3. Create an empty Punnett square

4. Fill in the Punnett square with the

possible genotypes of the offspring
5. Determine the relative proportions of
genotypes and phenotypes of the offspring
– Genotypic ratio
TT : Tt : tt
1 : 2 : 1
– Phenotypic ratio
Tall : dwarf
3 : 1
Testcross: Revealing Unknown Genotypes

Suppose we have a ‘MYSTERY’ pea plant that has

purple flowers. We cannot tell from its flower color if
this plant is homozygous (PP) or heterozygous (Pp)
because both genotypes result in the same purple
phenotype.
• Testcross: breeding the mystery individual
with a homozygous recessive individual

PP @ Pp x pp
TECHNIQUE
 The Backcrossing

• A crossing of a hybrid with one of its

parents or an individual genetically similar
to its parent
• To achieve offspring with a genetic identity
which is closer to that of the parent
Mendelian Genetics II (Dihybrid
Cross)
 MENDELIAN
INHERITANCE
Dihybrid
The Law of Independent
Assortment
 Lesson learning outcome
• Evaluate the outcome of dihybrid cross
• Explain Mendel’s principle of Independent
Assortment
• Understand the physical basis of independent
assortment (explain by meiosis)
• Interpret data from test crosses to infer
genotypes
 Mendel’s Experiments

• Mendel also performed dihybrid crosses

– Crossing individual plants that differ in two
traits
• For example
– Trait 1 = Seed texture (round vs. wrinkled)
– Trait 2 = Seed color (yellow vs. green)
• There are two possible patterns of
inheritance for these traits
(a) HYPOTHESIS: Linked (b) HYPOTHESIS: Independent
assortment assortment
DATA FROM ONE OF MENDEL’S DIHYBRID CROSSES

P Cross F1 generation F2 generation

Round, All round, 315 round, yellow seeds

Yellow seeds yellow 101 wrinkled, yellow seeds
X wrinkled, 108 round, green seeds
green seeds 32 green, wrinkled seeds
 Interpreting the Data

• The F2 generation contains seeds with

novel combinations not found in the
parentals
– Round and Green
– Wrinkled and Yellow
• These are nonparentals
• Occurrence contradicts the linkage model
 Law of Independent Assortment
• If the genes,assort independently the predicted phenotypic
ratio in the F2 generation would be 9:3:3:1

P Cross F1 generation F2 generation Ratio

Round, All round, yellow 315 round, yellow seeds 9.8

Yellow seeds 101 wrinkled, yellow seeds 3.2
X wrinkled, 108 round, green seeds 3.4
green seeds 32 green, wrinkled seeds 1.0

• Mendel’s data was very close to segregation expectations

• Thus, he proposed the law of Independent assortment
– During gamete formation, the segregation of any pair of
hereditary determinants is independent of the segregation
of other pairs
Mendel’s Law of Independent Assortment
• Independent assortment is also revealed by a
dihybrid test-cross
– TtYy X ttyy

• Thus, if the genes assort independently, the

expected phenotypic ratio among the offspring is
1:1:1:1
Dihybrid
Punnett
Square
Q1: A pea plant is heterozygous for both seed shape and
seed color. S is the allele for the dominant, spherical shape
characteristic; s is the allele for the recessive, dented
shape characteristic. Y is the allele for the dominant,
yellow color characteristic; y is the allele for the recessive,
green color characteristic.

Q1: What will be the distribution of these two alleles in this

plant's gametes?

A1: ?

Q2: The expected phenotypic ratio of the progeny of a

SsYy x ssyy test cross is:

A2: ?