BTY222- Lecture 5

Mendelian Genetics I
Pre- Mendel theories of hereditary
Pangenesis theory

“Little man” Blended

inheritance
 • Gregor Mendel studied heredity in
peas, carefully choosing traits that
did not appear to blend. Collected
data from 1856 - 1865.

• Mendel’s creative contribution: he

was the first to follow single traits
from generation to generation
instead of trying to document and
follow every trait in the plants.

• Mendel predicted the concept of

genes, that genes occur in pairs and
that one gene of each pair is
present in the gametes

Pea pods
The chosen characters:
• Mendel was the first biologist to use mathematics
to explain his results quantitatively.

• Mendel chose the garden pea as his model system because:

Experimental model +
it is easy to grow experimental design
it has true-breeding strains (self fertilization)
controlled matings: self-fertilization or cross-fertilization
it grows to maturity in one season (~90 days)
Several different physical characteristics
Crossing pea plants was easily achieved.
 Monohybrid Cross
The simplest experiment, it involves a single pair of contrasting traits

Self crossed F1
generation
 Male Female

-Re-appearance of green pea plants disapproved blending

-Observed the same 3:1 ratio for a reciprocal cross
 The conclusions: Mendel’s postulates

1. Genetic characters are controlled by unit factors

existing in pairs in individual organisms

The factors occur in pairs,

and each individual receives one factor from each parent.

Three combinations are possible:

2 factors for yellow seed,
2 factors for green seed,
1 factor for green, 1 for yellow
 Modern terminology
Unit factors : genes
Unit factors alternative forms: alleles
Phenotype: physical expression of a trait
Genotype: genetic makeup of an individual
Notation: YY: genotype for yellow phenotype (showing the 2 unit factors)

yy: genotype for green phenotype

Y and y are alleles of seed color factor

Homozygote: individual with identical alleles
Heterozygote: individual with different alleles
When 2 unlike unit factors responsible for
a single character are present in a single
individual, one unit factor is dominant to
the other, which is said to be recessive.
 Q1
A purple-flowered pea plant is crossed with a white-flowered
pea plant. All F1 plants produce purple flowers. When F1 plants
self-pollinate, 401 of the F2s have purple flowers and 131 have
white flowers.

1) What are the genotypes of the parental and the F1

generation plants?

2) What are the expected genotypic proportions of this test?

3) what are the expected phenotypic proportions?

 During the formation of the gametes,
the paired unit factors separate,
randomly, so that each gamete receives
one or the other with equal likelihood.

Mendel understood all P1 had identical unit factors

and that all F1 receive one factor from each parent.

These segregate at random in F1 gametes. After

(self) fertilization, 4 combinations are possible:
(1)
(2)
(3)
(4)
How can we determine the genotype
of an individual with
dominant phenotype?

Testcross:
Possible offspring genotype proportions:
Dominant phenotype
¼ YY 25% probability of getting YY= yellow homozygote
X
¼ Yy
¼ Yy Recessive phenotype
50% probability of getting Yy = yellow heterozygote

¼ yy 25% probability of getting yy = green homozygote

 Dominant phenotype X Recessive phenotype
Results:
X
g g
IF genotype is homozygote Gametes: all g
gametes are all G G Gg Gg All
G Gg
Gg Gg dominant phenotype

g g
IF genotype is heterozygote Gg, 50% dominant
gametes are 50% G G Gg Gg
Gg phenotype
and 50% g g gg gg
50% recessive
phenotype
Test cross: is this dominant phenotype homozygote for the
dominant character or heterozygote?
To answer the question we cross it with a recessive
homozygote individual and evaluate the results:
 Dihybrid crosses:

Dibybrid crosses: experiments involving 2 pairs of contrasting traits

Traits:

Seed surface: round vs wrinkled

Seed color: green vs yellow

Dihybrid cross

Yellow is dominant to Green

Round is dominant to Wrinkled

9:3:3:1 ratio
 F2 Phenotypes:
¾ dominant
¼ recessive

Ratio 3:1

The pairs of contrasting traits are

inherited independently .

Combined probability of the two

is the product of individual
probabilities of occurrence
 4th Postulate:

During gamete formation,

segregating pairs of unit factors
assort independently
from each other
 Refreshing stats…
One event : probability of getting a 6

P (6) = 1/6

Two independent events:

Probability of getting a 1 AND a 4

P (1) = 1/6
P (4) = 1/6

P(1) AND P(4) =

P(1) x P(4) = 1/6 X 1/6 = 1/36
 P applied to phenotypes:
Of all F1: What is the probability of
¾ are yellow obtaining yellow wrinkled
¼ are green seeds in the offspring of F1
yellow seeds?
¾ are round P(yellow wrinkled ) = P yellow x P wrinkled
¼ are wrinkled
= ¾ x ¼ = 3/16
 Fork-line method for inference of phenotypes

© 2012 Pearson Education, Inc.

Figure 3.6
 Q2.

The probability of obtaining a genotype AAbb from a crossing

between two individuals AaBb is:

a. 0.5 + 0.5
b. 1+¼
c. 0.5
d. ¼x¼
e. ¼ x ½
 Q3.
The probability of obtaining a genotype AaBb from a crossing
between two individuals with genotypes AaBB and AABb is:

a. 0.5 + 0.5
b. 0.5 x 0.5
c. 0.5
d. ¼x½
e. ¼ x ¼
 Q4
What is the probability that an organism with genotype AaMmTT
produces a gamete amT ?

a. 1
b. 0.5
c. ¼
d. ¼X¼X½
e. none
 Practice questions

Calculate the probability of obtaining: (6 marks)

a. An Aa BB Cc zygote from a cross of Aa Bb Cc x Aa Bb Cc

b. An Aa BB cc zygote from a cross of aa BB Cc x AA bb CC

c. An A B C phenotype from a cross of Aa Bb CC x Aa Bb cc

 Trihybrid crosses
three-factor crosses

Forked-line method
Branch diagram

Number of different gametes = 2n , where n = gene pairs

Therefore: 2x2x2 = 8 possible types of gametes

And F1 x F1 results in
(# gametes ) x (# gametes) = # genotypes
8 x 8 = 64 different genotypes
P applied to gametes and genotypes:

AaBbCc x AaBbCc

Number of possible gametes = 2n

Where n = number of heterozygous
gene pairs with independent assortment

Possible combinations: ABC P = 0.5 x 0.5 x 0.5 = 0.125

ABc P = ½ x ½ x ½ = 1/8
aBc P = ½ x ½ x ½ = 1/8
abC P = ½ x ½ x ½ = 1/8
AbC P = ½ x ½ x ½ = 1/8
aBC P = ½ x ½ x ½ = 1/8
Abc P = ½ x ½ x ½ = 1/8
abc P = ½ x ½ x ½ = 1/8
Trihybrid crosses
 Test cross
Evidencing the genotype of individuals
with unknown genotype by a crossing
experiment with a recessive individual.

GGWw
GgWw ggww
GGWW
… but not about this one
GgWW
There is uncertainty about the genotype of an
individual with this phenotype, with 2
dominant traits
 Test cross
Test cross = x
Strategy:
1. Predict all possible gametes of individuals being crossed
2. Predict all possible results of fertilization events (phenotypes)

This strategy is based in the ability of gametes with RECESSIVE alleles to evidence
the GENOTYPE of the other contributing gamete.

PHENOTYPE of the offspring of test cross = GENOTYPE of the gamete

 Test cross

Genotype GGWw GgWw GGWW GgWW ggww

of
parents
Gametes GW GW GW GW gw
Gw Gw gW
gW
gw
GGWw x ggww
Indicate possible genotypes for the results
GgWw x ggww
of the crosses
GGWW x ggww
GgWW x ggww
 Test Cross

Aa x aa = 50% Aa Dominant phenotype

50 % aa recessive phenotype

AA x aa = 100 % Aa Dominant phenotype

Most important observations by
Mendel:

1.Unit factors occur in pairs

one is dominant , the other is recessive

2. The elements of the pair segregate randomly to

each gamete (SEGREGATION) with equal likelihood

segregating pairs different unit factors assort

independently from each other
(INDEPENDENT ASSORTMENT)
Chi square analysis evaluates the
influence of chance
Mendel’s 3:1 monohybrid and 9:3:3:1 dihybrid ratios
are hypothetical predictions based on the assumptions:

1.Each allele is dominant or recessive

2.Segregation occurs
3.Independent assortment
4.Random fertilization These assumptions are
influenced by chance

Therefore we can expect some deviations

from the expected proportions
Categorical Data
•Discrete (non-overlapping) categories that collectively cover all possibilities
• If one has a model that generates probabilities of being in each possible
category, one can use the Chi-squared test to compare the observed outcomes
(=numbers) to the expected numbers once the total number of observations is
known.

The χ2 TEST is used to evaluate if the observed

numbers (counts) in the categories are compatible
with the predicted numbers in each category.

Differences between the expected number and the

observed number in each category are used to
calculate a value.
NOTE: χ2 is a symbol. It is NOT the square of a variable χ.
 Test of genetic hypotheses
• Chi-square is a statistical test commonly used to
compare observed data with data we would expect
to obtain according to a specific hypothesis.

• Chi-Square analysis evaluates the influence of chance

on genetic data

• Chance deviation from an expected outcome is

diminished by larger sample size
Test of genetic hypotheses

The hypothesis to be tested : Ho or Null Hypothesis

The H0 assumes there is no real difference between the

observed and the predicted values
In our case Ho is based on a model: Mendel’s postulates
allow to predict the outcome of a cross experiment.

If the results do not fit the model:

the Ho is rejected and
the alternative hypothesis H1 is accepted.
 Chi-square test

Chi-square (2) analysis is used to test how well the data fit the null hypothesis

2 =  (o-e)2 =  d2/e
e
Check critical value in table
summation is over
all possible We define level of significance (0.05)
categories Need d.f.= number or categories -1

o = observed
e= expected

Observed: e.g count genotypes or phenotypes

Expected: what outcome (counts of genotypes or phenotypes) do we expect

according to Mendel’s principles
 Chi-square test

• When we assume that data will fit a given

ratio, we establish what is called the null
hypothesis—so named because it assumes
that there is no real difference between the
measured values and the predicted values .

• The apparent difference can be attributed

purely to chance
• Chi-square (2) analysis is used to test how
well the data fit the null hypothesis

• Table 3.3a shows the steps in 2 calculations

for the F2 generation of a monohybrid cross
• Table 3.3. b shows the steps in 2 calculations
for the F2 generation of a dihybrid cross
Q: are the result of these crosses according to expectations/ adjust to
Mendel’s principles? We observe phenotypes.

F2 results Once we obtain a

This expectations chi-square value
are based on we check the table
Mendel’s to see whether it is
principles significant
 Chi-square test

• df = # of categories – 1
Number of values in the calculation of a statistic that
are free to vary.

• : level of significance, is the probability of rejecting

the null hypothesis when is true.
e.g. If  = 0.5, there is a 5% risk of accepting
there is a difference when there is not.
 Chi-square test: testing hypothesis

Observation ? Theory
Does our
observation fit
O E Ho = null hypothesis
the theory or the
Categories C1 23 40
expectation? H1 = alternative hypothesis
C2 10 10

Define CRITICAL VALUE

• Choose level of significance (e.g. = 0.05)
Estimate the
• Identify d.f. (# cat – 1)
Check  table
2
statistic  2

2 < Critical value : Accept H0

2 > Critical value : Reject H0
 Chi-square test

Once the number of degrees of freedom

is determined, the 2 value can be
interpreted in terms of a corresponding
probability value (p)
 How do we use the χ-square table?
Our chi-square value = 0.53 for 1 d.f. *
And we use a level of significance = 0.05 to accept/ reject the Null Hypothesis

FAIL TO REJECT H0 REJECT H0

Our chi-square value is lower than the critical value for significance.
Therefore we accept the null hypothesis.
* In a monohybrid cross there are two possible observable independent phenotype categories: dominant or
recessive. Therefore d.f. = 2 -1 = 1.
Critical χ2 values

• With 1 df the critical value is 3.84 at  = 0.05

– If the calculated value is greater than 3.84 one rejects the
model.
– If the calculated value is less than 3.84 one accepts the
model as sufficient.

• With 2 df the critical χ2 value is 5.99

• With 3 df the critical χ2 value is 7.82

POSSIBILITIES about truth
•Hypothesis is TRUE
Typically biologists
are willing to accept a
5% (1/20) rate of error of
rejecting the model when
it is true.
type I error is the incorrect
rejection of a true null hypothesis
• Hypothesis is FALSE
Different hypotheses
can lead to similar predictions.
Acceptance of hypothesis does not
PROVE it to be true
A type II error occurs when one
rejects the alternative hypothesis
(fails to reject the null hypothesis)
when the alternative hypothesis is true
Chi-square test

Values are under the critical level

of significance
The null hypothesis cannot be
rejected
 Types of crosses
Monohybrid cross: crossing 2 individuals which are homozygotes for a trait.
The F2 of this cross produces all heterozygotes

Reciprocal cross: crossing alternative states of one trait being carried by male
AND female, and female AND male, both.

Back cross: crossing offspring with parental individuals

Test cross: crossing individuals with dominant phenotype with individuals with
recessive phenotype to find out whether it is homozygote or heterozygote for
the dominant allele.
 Educational sites
http://star.mit.edu/genetics/

http://nhscience.lonestar.edu/biol/monohybr/monhybr.html

Videos

Mendelian Genetics https://www.youtube.com/watch?v=NWqgZUnJdAY

Dihybrid cross https://www.youtube.com/watch?v=cvTt-azvHsA

Interactive site
http://mathbench.umd.edu/modules/statistical-tests_chisquare_intro/page15.htm
 Questions
1. How do the principles of Mendel relate to the events in cell cycle
(meiosis) we saw in the previous classes?
2. What is a dominant trait?
3. What is a recessive trait?
4. Define homozygote, heterozygote.
5. What are the phenotypic and genotypic proportions of the results of
crossing to heterozygote individuals for a dominant- recessive character?
use Punnet square to illustrate. Provide the genotype and phenotype
proportions
6. What strategy can you follow to elucidate whether an individual with
dominant phenotype for a certain trait is homozygote or heterozygote?
7. How many possible different gametes would an individual heterozygote
for 4 different traits produce?
8. In a monohybrid cross you are interested in testing whether the
proportion of observed genotypes adjust to Mendelian expectation.
What would be the d.f. for this test?