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Genetics Chapter 2
Part 1
Dr. Tricia Hardt Smith
hardtta@vcu.edu
State of genetics in early
1800’s
What is inherited?
How is it inherited?
What is the role of chance in
heredity?
Johann Gregor Mendel
(1822-1884)


Born to simple farmers in the Czeh Republic



1843: Augustinian monastery (Brno)



1851-53: University of Vienna; Physics
Institute


Mathmatics, chemistry, entomology, paleotology, botany,
plant physiology



1856-1863: Pea plant breeding experiments



1866: Published his findings



1900: Three botanists (De Vries, von
Tschermak & Correns) independently
conduct the same experiments, come
across Mendel’s paper and draw attention
to his work.
Mendelian genetics
• Mendel’s work
unnoticed until 1900’s
• Introduced concept of
“units of inheritance”
• When correlated with
cytological data →
Transmission
genetics was born
Mendel’s workplace

Fig. 2.5
Chapter 2 Opener
Why pea plants?
Easy to grow and hybridize
artificially

• Reproduce well.
•

Each seed is a new individual, can
measure the characteristics of a large
number of offspring after one breeding
season

• Grow to maturity in
single season
Mendel’s Approach
• Mendel obtained 34 different
varieties of peas from local
suppliers and examined the
characteristics of each
• He identified 14 strains
representing seven specific traits
each with two forms that could
be easily distinguished. He
spent two years making sure
these varities bred true.
Jos A. Smith

• He worked with these strains for
5 years, determining how each
character was inherited
1900 - Carl Correns, Hugo
deVries, and Erich von
Tschermak rediscover and
confirm Mendel’s laws.

Mendel published
in 1866, was not
appreciated in his
lifetime.
Mendel’s Approach Followed the Modern
Scientific Method
1.

Make initial observations about a
phenomenon or process

2.

Formulate a testable hypothesis

3.

Design a controlled experiment
to test the hypothesis

4.

Collect data from the experiment

5.

Interpret the experimental
results, comparing them to those
expected under the hypothesis

6.

Draw a conclusion and
reformulate the hypothesis if
necessary

One of Mendel’s
strengths was his
careful
experimental
design
Five Critical Experimental Innovations
• There were five features of
Mendel’s breeding experiments that
were critical to his success
• Controlled crosses
• Use of pure breeding strains
• Selection of dichotomous traits
• Quantification of results
• Use of replicate (repeated), reciprocal,
and test crosses
• Luck?
Controlled Crosses Between Plants
• Pea plants are capable
of self-fertilization and
artificial crossfertilization
• Self-fertilization occurs
naturally
• Cross-fertilization
involves removing the
anthers from a flower
and introducing pollen of
the desired type with a
small brush

From Peirce Genetics
Pure-Breeding Strains to Begin
Experimental Crosses
• Mendel took 2 years
prior to beginning his
experiments to
establish purebreeding (or truebreeding) strains
• Each experiment began
with crosses between
two pure-breeding
parental generation
plants (P generation)
that produced offspring
called F1 (first filial
generation)
Monohybrid Crosses
Monohybrid Cross: a cross-pollination involving two
true-breeding lines that differ for only one trait
“Parental
Female
Male
generation”
Parents:

Smooth
Seeds

“P”
Wrinkled
Seeds

Progeny:

All progeny had smooth seed!
All progeny had same PHENOTYPE:
“the form that is shown”

“F1”
“First Filial
generation”
Monohybrid Crosses
Female

Male

“P”
Smooth
Seeds

Wrinkled
Seeds

“F1”
Two possible Hypotheses

How could you
differentiate between
these possibilities?

Hypothesis 1: The smooth phenotype is “dominant”
to the wrinkled phenotype
Hypothesis 2: The child’s phenotype is determined by
the mother’s phenotype
Mendel Made Reciprocal Crosses
Reciprocal Cross: Repeating a particular genetic cross
but with the sexes of the two parents switched
Female

Male

Wrinkled
Seeds

Smooth
Seeds

“P”

All F1 had smooth seed.

“F1”

Conclusion
- Phenotype is not determined by the mother’s phenotype
- The smooth trait is “dominant” to the wrinkled trait
• The trait shown by the F1
offspring was called the
dominant phenotype (round
peas, e.g.)
• The other trait not apparent in
the F1 was called the
recessive phenotype
(wrinkled)
• When F1 were crossed, 75%
of the resulting F2 had the
dominant trait, but the
recessive trait reappeared in
the other 25%
Alleles
• Mendel’s results rejected
the blending theory of
heredity
• Theorized that plants
carry two discrete
hereditary units for each
trait, alleles; a plant
receives one of these in
the egg and the second
in pollen
• Together the two alleles
for each trait determine
the phenotype of the
individual

Alleles

Phenotype
Homozygous and Heterozygous Individuals

Homozygous (TT & tt)

Heterozygous (Tt)

• Pure-breeding individuals, like Mendel’s parent plants, have identical copies of the
two alleles for a trait (homozygous individual)
• The F1 plants had different alleles from each parent and were heterozygous
Now that we have a
Now that we have a
theory, we can do
theory, we can do
some real predicting!
some real predicting!

• A 3:1
phenotypic ratio
is predicted for
the F2 produced
by a monohybrid
cross
• A 1:2:1
genotypic ratio
is also predicted
(¼ G/G, ½ G/g,
¼ g/g)
Punnett Square
• The alleles (in
gametes) carried by
one parent are
arranged along the
top of the square and
those of the other
parent, down the side
• The results expected
from random fusion
of the gametes are
placed within the
square

Punnett Square
R

r

RR

Rr

Rr

rr

R

r
Mendel’s Results Revisited: F1
♀

♂

Genotype?
Genotype?
“AA”

Smooth
Seeds

Wrinkled
Seeds

Gametes possible: “A” or “A”

“aa”

Gametes possible: “a”
or “a”

♀ Gametes

Smooth
“Aa”

A

♂ Gametes
a
a
Aa
Aa

A

Aa

Aa

Use a “Punnett Square” to determine
all possible progeny genotypes
Explains why all progeny were smooth
Br
A
B
C
D
E

rr
What is the predicted cross of
homozygous recessive red and
heterozygous dominant 20% 20%
brown?

20%

20%

20%

1

ed
lr
Al

re
d

br
o

w

n,
3

re
d
n,
2

br
o

w

n,
1
2

3

br
o

w

lb
Al

re
d

brown
B. 3 brown, 1 red
C. 2 brown, 2 red
D. 1 brown, 3 red
E. All red
ro
w
n

A. All
B

r

r

Br

rr

r

Br

rr
Br
A
B
C
D
E

rr
Red + Brown = Blond! (sometimes?)
Not all traits are dominant/reccessive!
More in upcoming lectures!
Punnett Square Practice
Problems!
Chapter

2: Problems 2 & 3
Mendel’s First Law
• Mendel used his theory of particulate inheritance to formulate
the law of segregation (Mendel’s first law)
• Alleles are separated into gametes. Gametes randomly
combine to create progeny in predictable proportions.
• Hypothesis!: Mendel expected that half of the gametes of
heterozygous F1 individuals would carry the dominant allele
and half the recessive
• How can we test this?

Genotype?
Genotype?
Conclusion: all
Conclusion: all
F1 plants are
F1 plants are
heterozygous!
heterozygous!
The Test Cross

• Allows to distinguish genotype of individual
expressing dominant phenotype by crossing it
with homozygous recessive individual
What other predictions
can we test?
• Mendel’s hypothesis
predicts that F2 plants with
the dominant phenotype
can be homozygous or
heterozygous
• The heterozygous state
(2/3) is twice as likely as the
homozygous state (1/3)
• HOW? Mendel used a selffertilization experiment to
test the predictions of the
hypothesis
F3 generation
• Hypothesis
confirmed:
• 1/3 of plants were
homozygous and
breed true
• 2/3 of heterozygous
F2 plants generated a
3:1 ratio of
dominant:recessive
phenotype among
their progeny
WHAT HAPPENS IF WE STUDY
TWO TRAITS?

Will the presence of one charastics affect the prescent of another?
Dihybrid-Cross Analysis
of Two Genes
• To study the simultaneous
transmission of two traits,
Mendel made dihybrid
crosses between
organisms that differed for
two traits
• He began each cross with
pure-breeding lines
(e.g., RRGG and rrgg) and
produced F1 that were
heterozygous for both traits
(e.g., RrGg).
• If assortment is random,
four gametes should be
equally likely in the F1 (e.g.,
RG, Rg, rG, rg)
2.3 Dihybrid and
Trihybrid Crosses

• How can we
calculate the
crosses of two or
more traits at the
same time?
• Dihybrid Punnet
Square
• Forked Diagram
An Aid to Prediction of Gamete Frequency
• The forked-line diagram is used to determine
gamete genotypes and frequencies
Let’s give it a try! 
• Self Fertilization of a
heterozygous yellow, round
pea?
• Round (R) is dominant to
wrinkled (r)
• Yellow (G) is dominant to
green (g)

F2 ?
• What does the dihybrid
Punnet square look
like?
• What does the forked
diagram look like?
Independent Assortment of Alleles from the
RrGg × RrGg Cross
• Mendel predicted that alleles of each locus unite at
random to produce the F2, generating
• round, yellow

R-G-

(¾)(¾) = 9/16

• round, green

R-gg

(¾)(¼) = 3/16

• wrinkled, yellow

rrG-

(¾)(¼) = 3/16

• wrinkled, green

rrgg

(¼)(¼) = 1/16

9:3:3:1 ratio!
9:3:3:1 ratio!
The dihybrid ratio: 9/16 both dominant traits, 3/16 each for two combinations
of one dominant and one recessive, and 1/16 both recessives
Mendel’s Second Law
• The 9:3:3:1 ratios generated in Mendel’s dihybrid crosses
illustrate Mendel’s second law, also known as Mendel’s
law of independent assortment
• The law states that during gamete formation the
segregation of alleles at one locus is independent of the
segregation of alleles at another locus.
• Within the 9:3:3:1 ratio, Mendel recognized two 3:1 ratios
for each trait
Testing Independent Assortment by TestCross Analysis
• Mendel wants to test his hypothesis about
independent assortment. HOW?

Test Cross!
• He predicted that the F1 seeds were dihybrid, of
genotype RrGr, and that crossing them to a plant of
genotype rrgg would yield four offspring phenotypes
with equal frequency
Testing Independent
Assortment by Trihybrid-Cross
Analysis

• To test his hypothesis about
independent assortment
further, Mendel performed
trihybrid-cross analysis
• The trihybrid cross involved
three traits: round vs.
wrinkled peas, yellow vs.
green peas, and purple vs.
white flowers
• The cross was: RRGGPP ×
rrggpp; the F1 were RrGgPp
How many possible combinations?
• Double check yourself! Do you see all the possible
combinations of phenotypes in your answer?
• The number of possibilities can be expressed as 2 n,
where n = number of genes
• In a trihybrid cross, there are 8 possibilties 2 3 = 8!
Go try some problems! 
• Chapter 2, problem 6
Questions?

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Genetics Chapter 2: Mendel's Laws of Inheritance

  • 1. Genetics Chapter 2 Part 1 Dr. Tricia Hardt Smith hardtta@vcu.edu
  • 2. State of genetics in early 1800’s What is inherited? How is it inherited? What is the role of chance in heredity?
  • 3. Johann Gregor Mendel (1822-1884)  Born to simple farmers in the Czeh Republic  1843: Augustinian monastery (Brno)  1851-53: University of Vienna; Physics Institute  Mathmatics, chemistry, entomology, paleotology, botany, plant physiology  1856-1863: Pea plant breeding experiments  1866: Published his findings  1900: Three botanists (De Vries, von Tschermak & Correns) independently conduct the same experiments, come across Mendel’s paper and draw attention to his work.
  • 4. Mendelian genetics • Mendel’s work unnoticed until 1900’s • Introduced concept of “units of inheritance” • When correlated with cytological data → Transmission genetics was born
  • 7. Why pea plants? Easy to grow and hybridize artificially • Reproduce well. • Each seed is a new individual, can measure the characteristics of a large number of offspring after one breeding season • Grow to maturity in single season
  • 8. Mendel’s Approach • Mendel obtained 34 different varieties of peas from local suppliers and examined the characteristics of each • He identified 14 strains representing seven specific traits each with two forms that could be easily distinguished. He spent two years making sure these varities bred true. Jos A. Smith • He worked with these strains for 5 years, determining how each character was inherited
  • 9.
  • 10. 1900 - Carl Correns, Hugo deVries, and Erich von Tschermak rediscover and confirm Mendel’s laws. Mendel published in 1866, was not appreciated in his lifetime.
  • 11. Mendel’s Approach Followed the Modern Scientific Method 1. Make initial observations about a phenomenon or process 2. Formulate a testable hypothesis 3. Design a controlled experiment to test the hypothesis 4. Collect data from the experiment 5. Interpret the experimental results, comparing them to those expected under the hypothesis 6. Draw a conclusion and reformulate the hypothesis if necessary One of Mendel’s strengths was his careful experimental design
  • 12. Five Critical Experimental Innovations • There were five features of Mendel’s breeding experiments that were critical to his success • Controlled crosses • Use of pure breeding strains • Selection of dichotomous traits • Quantification of results • Use of replicate (repeated), reciprocal, and test crosses • Luck?
  • 13. Controlled Crosses Between Plants • Pea plants are capable of self-fertilization and artificial crossfertilization • Self-fertilization occurs naturally • Cross-fertilization involves removing the anthers from a flower and introducing pollen of the desired type with a small brush From Peirce Genetics
  • 14.
  • 15. Pure-Breeding Strains to Begin Experimental Crosses • Mendel took 2 years prior to beginning his experiments to establish purebreeding (or truebreeding) strains • Each experiment began with crosses between two pure-breeding parental generation plants (P generation) that produced offspring called F1 (first filial generation)
  • 16. Monohybrid Crosses Monohybrid Cross: a cross-pollination involving two true-breeding lines that differ for only one trait “Parental Female Male generation” Parents: Smooth Seeds “P” Wrinkled Seeds Progeny: All progeny had smooth seed! All progeny had same PHENOTYPE: “the form that is shown” “F1” “First Filial generation”
  • 17. Monohybrid Crosses Female Male “P” Smooth Seeds Wrinkled Seeds “F1” Two possible Hypotheses How could you differentiate between these possibilities? Hypothesis 1: The smooth phenotype is “dominant” to the wrinkled phenotype Hypothesis 2: The child’s phenotype is determined by the mother’s phenotype
  • 18. Mendel Made Reciprocal Crosses Reciprocal Cross: Repeating a particular genetic cross but with the sexes of the two parents switched Female Male Wrinkled Seeds Smooth Seeds “P” All F1 had smooth seed. “F1” Conclusion - Phenotype is not determined by the mother’s phenotype - The smooth trait is “dominant” to the wrinkled trait
  • 19.
  • 20. • The trait shown by the F1 offspring was called the dominant phenotype (round peas, e.g.) • The other trait not apparent in the F1 was called the recessive phenotype (wrinkled) • When F1 were crossed, 75% of the resulting F2 had the dominant trait, but the recessive trait reappeared in the other 25%
  • 21.
  • 22. Alleles • Mendel’s results rejected the blending theory of heredity • Theorized that plants carry two discrete hereditary units for each trait, alleles; a plant receives one of these in the egg and the second in pollen • Together the two alleles for each trait determine the phenotype of the individual Alleles Phenotype
  • 23. Homozygous and Heterozygous Individuals Homozygous (TT & tt) Heterozygous (Tt) • Pure-breeding individuals, like Mendel’s parent plants, have identical copies of the two alleles for a trait (homozygous individual) • The F1 plants had different alleles from each parent and were heterozygous
  • 24. Now that we have a Now that we have a theory, we can do theory, we can do some real predicting! some real predicting! • A 3:1 phenotypic ratio is predicted for the F2 produced by a monohybrid cross • A 1:2:1 genotypic ratio is also predicted (¼ G/G, ½ G/g, ¼ g/g)
  • 25. Punnett Square • The alleles (in gametes) carried by one parent are arranged along the top of the square and those of the other parent, down the side • The results expected from random fusion of the gametes are placed within the square Punnett Square R r RR Rr Rr rr R r
  • 26. Mendel’s Results Revisited: F1 ♀ ♂ Genotype? Genotype? “AA” Smooth Seeds Wrinkled Seeds Gametes possible: “A” or “A” “aa” Gametes possible: “a” or “a” ♀ Gametes Smooth “Aa” A ♂ Gametes a a Aa Aa A Aa Aa Use a “Punnett Square” to determine all possible progeny genotypes Explains why all progeny were smooth
  • 28. What is the predicted cross of homozygous recessive red and heterozygous dominant 20% 20% brown? 20% 20% 20% 1 ed lr Al re d br o w n, 3 re d n, 2 br o w n, 1 2 3 br o w lb Al re d brown B. 3 brown, 1 red C. 2 brown, 2 red D. 1 brown, 3 red E. All red ro w n A. All
  • 30. Red + Brown = Blond! (sometimes?) Not all traits are dominant/reccessive! More in upcoming lectures!
  • 32. Mendel’s First Law • Mendel used his theory of particulate inheritance to formulate the law of segregation (Mendel’s first law) • Alleles are separated into gametes. Gametes randomly combine to create progeny in predictable proportions. • Hypothesis!: Mendel expected that half of the gametes of heterozygous F1 individuals would carry the dominant allele and half the recessive • How can we test this? Genotype? Genotype?
  • 33.
  • 34. Conclusion: all Conclusion: all F1 plants are F1 plants are heterozygous! heterozygous!
  • 35. The Test Cross • Allows to distinguish genotype of individual expressing dominant phenotype by crossing it with homozygous recessive individual
  • 36. What other predictions can we test? • Mendel’s hypothesis predicts that F2 plants with the dominant phenotype can be homozygous or heterozygous • The heterozygous state (2/3) is twice as likely as the homozygous state (1/3) • HOW? Mendel used a selffertilization experiment to test the predictions of the hypothesis
  • 37. F3 generation • Hypothesis confirmed: • 1/3 of plants were homozygous and breed true • 2/3 of heterozygous F2 plants generated a 3:1 ratio of dominant:recessive phenotype among their progeny
  • 38.
  • 39. WHAT HAPPENS IF WE STUDY TWO TRAITS? Will the presence of one charastics affect the prescent of another?
  • 40. Dihybrid-Cross Analysis of Two Genes • To study the simultaneous transmission of two traits, Mendel made dihybrid crosses between organisms that differed for two traits • He began each cross with pure-breeding lines (e.g., RRGG and rrgg) and produced F1 that were heterozygous for both traits (e.g., RrGg). • If assortment is random, four gametes should be equally likely in the F1 (e.g., RG, Rg, rG, rg)
  • 41. 2.3 Dihybrid and Trihybrid Crosses • How can we calculate the crosses of two or more traits at the same time? • Dihybrid Punnet Square • Forked Diagram
  • 42. An Aid to Prediction of Gamete Frequency • The forked-line diagram is used to determine gamete genotypes and frequencies
  • 43. Let’s give it a try!  • Self Fertilization of a heterozygous yellow, round pea? • Round (R) is dominant to wrinkled (r) • Yellow (G) is dominant to green (g) F2 ? • What does the dihybrid Punnet square look like? • What does the forked diagram look like?
  • 44.
  • 45. Independent Assortment of Alleles from the RrGg × RrGg Cross • Mendel predicted that alleles of each locus unite at random to produce the F2, generating • round, yellow R-G- (¾)(¾) = 9/16 • round, green R-gg (¾)(¼) = 3/16 • wrinkled, yellow rrG- (¾)(¼) = 3/16 • wrinkled, green rrgg (¼)(¼) = 1/16 9:3:3:1 ratio! 9:3:3:1 ratio! The dihybrid ratio: 9/16 both dominant traits, 3/16 each for two combinations of one dominant and one recessive, and 1/16 both recessives
  • 46. Mendel’s Second Law • The 9:3:3:1 ratios generated in Mendel’s dihybrid crosses illustrate Mendel’s second law, also known as Mendel’s law of independent assortment • The law states that during gamete formation the segregation of alleles at one locus is independent of the segregation of alleles at another locus. • Within the 9:3:3:1 ratio, Mendel recognized two 3:1 ratios for each trait
  • 47.
  • 48. Testing Independent Assortment by TestCross Analysis • Mendel wants to test his hypothesis about independent assortment. HOW? Test Cross! • He predicted that the F1 seeds were dihybrid, of genotype RrGr, and that crossing them to a plant of genotype rrgg would yield four offspring phenotypes with equal frequency
  • 49.
  • 50. Testing Independent Assortment by Trihybrid-Cross Analysis • To test his hypothesis about independent assortment further, Mendel performed trihybrid-cross analysis • The trihybrid cross involved three traits: round vs. wrinkled peas, yellow vs. green peas, and purple vs. white flowers • The cross was: RRGGPP × rrggpp; the F1 were RrGgPp
  • 51.
  • 52. How many possible combinations? • Double check yourself! Do you see all the possible combinations of phenotypes in your answer? • The number of possibilities can be expressed as 2 n, where n = number of genes • In a trihybrid cross, there are 8 possibilties 2 3 = 8!
  • 53. Go try some problems!  • Chapter 2, problem 6

Notas del editor

  1. Figure 2.5
  2. Figure 2.19
  3. 3.4 Mendel’s monohybrid crosses revealed the principle of segregation and the concept of dominance.