BIOL 2110 - Genetics
LECTURE 3
Mendelian genetics
1
A/Prof Jaco Le Roux
jaco.leroux@mq.edu.au
Mendelian Genetics
• Mendel’s study of heredity
• Principles of dominance and segregation
• Principle of independent assortment
• More on predicting the outcome of crosses
Types of trait variation
• Continuous - each trait has numerous slightly
different variants
• Discreet (discontinuous) - each trait has two, or
a few, very different unambiguous states
Mendel chose the latter type
Revision
Revision
The garden pea
Pisum sativum
• Self-fertilisation:
• Highly inbred; little or no variation – pure line or true breeding
• Artificial cross fertilisations: readily done by removing the immature
stamens and transferring pollen between plants
• Small, easy to grow in large numbers, short generation time, cheap
• Hybrid pea plants were known
• Distinct traits available: Mendel obtained seven pairs of pure lines
for seven characters – each pair differing in only one character
The garden pea
Pollen recipient
(emasculated) Pollen donor
sfe r
n tran
l l e
po
The principle of
segregation and dominance
The principle of segregation
10
Monohybrid crosses P X
true breeding for particular traits F1
1. Violet and white lines crossed
2. All hybrid progeny are violet
X
3. Self-fertilisation of hybrid progeny
3. Violet and white phenotypes appear among
offspring approximately in a ratio of
3 violet : 1 white
F2 11
705 224
1. F3 generation from self-fertilised F2
F2
2. Most abundant phenotype produce
two types of offspring: 33% 100%
66%
2/3 of plants produced again 3:1 ratio
1/3 of plants always the same trait
F3
3. Less abundant phenotype always the
Same trait
Symbolic representation of a
monohybrid cross
P aa
AA
1. Each true breeding parent produces
only one kind of gamete A a
2. F1 heterozygotes produce two kinds
of gametes
F1 Aa
Self-fertilization
3. Self-fertilization of F1 heterozygotes
yields violet and white phenotypes in a 3:1 ratio
Phenotypes Genotypes Genotypic ratio Phenotypic ratio AA Aa
AA 1 3
Aa 2
aa 1 1 14
Aa aa
Mendel’s principles
• The principle of dominance: In a
heterozygote, one allele may conceal the
presence of another.
• The principle of segregation: In a
heterozygote, two different alleles
segregate from each other during the
formation of gametes.
Dihybrid crosses
Comparison of observed and
expected results in the F2
Mendel’s Principles
• The principle of independent assortment:
The alleles of different genes segregate, or
as we sometimes say, assort, independently
of each other.
Note: this is not true for all genes!
This applies to genes that are found on two different chromosomes
or are very far apart on the same chromosome
The principle of independent
assortment
Key Points
• Mendel studied the inheritance of seven
different traits in garden peas, each trait being
controlled by a different gene.
• Mendel’s research led him to formulate three
principles of inheritance:
1) The alleles of a gene are either dominant or
recessive.
2) Different alleles of a gene segregate from each other
during the formation of gametes.
3) The alleles of different genes assort independently.
Applications of Mendel’s
principles
• Mendel’s principles can be used to predict
the outcomes of crosses between different
strains of organisms
• Three methods to predict outcomes
– The Punnett Square Method
– The Probability Method
The Punnett Square Method
What if we want the expected genotypic results of
more complicated crosses?
Ss ; Yy ; RR ; Ww ; tt vs. Ss ; Yy ; Rr ; ww ; Tt
What fraction of the offspring are
ss ; YY; Rr ; ww ; tt ?
How many different kinds of gametes?: 2n , where n=number heterozygous loci
Expected Genotypic Results
Using a Punnett Square:
One parent produces 8 kinds of gametes
The other parent makes 16 kinds of
gametes
The square has 128 boxes in it!
Rule of Multiplication: The probability that Events A and B
both occur is equal to the probability that Event A occurs
times the probability that Event B occurs, given that A has
occurred.
P(A ∩ B) = P(A) P(B|A)
Rule of Addition: The probability that Event A or Event B
occurs is equal to the probability that Event A occurs plus
the probability that Event B occurs minus the probability
that both Events A and B occur.
P(A ∪ B) = P(A) + P(B) - P(A ∩ B)
Expected genotypic results
Fraction of offspring that is ss ; YY ; Rr ; ww ; tt
from the cross:
Ss ; Yy ; RR ; Ww ; tt X Ss ; Yy ; Rr ; ww ; Tt
Ss x Ss = 1/4 ss
Yy x Yy = 1/4 YY
RR x Rr = 1/2 Rr
Ww x ww = 1/2 ww
tt x Tt = 1/2 tt
Answer: 1/4 x 1/4 x 1/2 x 1/2 x 1/2 = 1/128
Conditional probability
What is the probability that a purple-
flowered pea is heterozygous when
crossing two heterozygotes? F1 Aa
AA Aa
Aa aa 28
Conditional probability
What is the probability that a purple-
flowered pea is heterozygous when
crossing two heterozygotes?
F1 Aa
Must be AA or Aa (1:2 ratio)
Therefore P=2/3
AA Aa
Aa aa 29
Formulating and testing genetic
hypotheses
• Hypothesis: a well-formulated scientific
idea
• Data collected from observations or from
experimentation enable scientists to test
hypotheses.
• For e.g. in genetics: Are the results of a
cross consistent with a hypothesis?
AA (violet) aa (white)
Aa X Aa crosses
Observed progeny A total of 50 flowers: 30 violet and 20 white
According to Mendelian monohybrid cross…
Expected ratio ¾ violet (AA, Aa, Aa)
¼ white (aa)
or violet:white = 3:1
AA (violet) aa (white)
Aa X Aa crosses
Observed progeny A total of 50 flowers: 30 violet and 20 white
According to Mendelian monohybrid cross…
The observed
Expected ratio ¾ violet (AA, Aa, Aa) vs.
¼ white (aa)
or violet:white = 3:1
expected,
is it chance?
The Chi-Square Test
(Observed - Expected)
2
c =å
2
Expected
• Predict expected numbers based on hypothesis
• Experimentally obtain (observe) numbers
• Calculate the c2 statistic.
• Determine the degrees of freedom.
• Compare the c2 statistic to the critical value
(Observed - Expected)
2
c =å
2
Expected
Expected ratio ¾ violet (AA, Aa, Aa)
¼ white (aa)
or violet:white = 3:1
(Observed - Expected)
2
c =å
2
Expected
Expected ratio ¾ violet (AA, Aa, Aa)
¼ white (aa)
or violet:white = 3:1
Expected progeny 50 X ¾ = 37.5 violet flowers
50 X ¼ = 12.5 white flowers
Observed progeny A total of 50 flowers: 30 violet and 20 white
(Observed - Expected)
2
c =å
2
Expected
Expected ratio ¾ violet (AA, Aa, Aa)
¼ white (aa)
or violet:white = 3:1
Expected progeny 50 X ¾ = 37.5 violet flowers
50 X ¼ = 12.5 white flowers
Observed progeny A total of 50 flowers: 30 violet and 20 white
Violet White
36
The degrees of freedom (df) = n-1
Where n = the number of different expected outcomes (phenotypes)
df
Theoretical X2 values
The degrees of freedom (df) = n-1
Where n = the number of different expected outcomes (phenotypes)
df
Theoretical X2 values
P > 0.05 P < 0.05
Deviation is NOT Deviation is
statistically significant, statistically significant
deviation caused by chance
Increased deviation in observed and expected values, i.e. very low
Probability that deviation is by chance alone
df
Violet White
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df
P > 0.05 P < 0.05
Deviation is NOT Deviation is
statistically significant, statistically significant
deviation caused by chance
Violet White
40
Example of a dihybrid cross with
df
P > 0.05 P < 0.05
Deviation is NOT Deviation is
statistically significant, statistically significant
deviation caused by chance
43
Next Lecture:
Sex determination and sex-
linked characteristics
