Lecture 1

Mendelian Inheritance (Chapter 2 p17-30)

INTRODUCTION TO GENETICS
B BIO 360 1
Unless otherwise noted, all assigned reading & figures will be
derived from the assigned textbook

5th Edition
2
Copyright © McGraw-Hill Education. Permission required for reproduction or display.
What is Genetics?

• Genetics is the study of:

3
 Learning Outcomes
Be able to:
• Explain why the garden pea was advantageous for Mendel’s
hybridization experiments.

• Explain the difference between self fertilization and cross-fertilization.

• Identify the characters that Mendel studied, and why it was important
for these traits to be true-breeders, and the difference between
character and trait/variant.

• Conduct and/or explain what monohybrid and dihybrid crosses are,

and the expected genotype and phenotype ratios of parents(P
generation), F1 and F2 generations.

• Draw and interpret a Punnett square for mono- and di-hybrid crosses.

4
 Learning Outcomes
Be able to:
• Explain Mendel’s laws and how they can be explained by the
phenotypic ratios observed amongst F2 individuals in a
genetic cross.

• Explain the difference between homozygous and

heterozygous, and the effect on phenotype.

• Explain what a test cross is and know what it is useful for

and/or when to use it. Be able to conduct a test cross when
needed.

• Explain the difference between a forward vs. reverse genetics

screen.
5
 Gregor Mendel (1822-1884): “the father of genetics”
• Gregor Mendel, an Austrian monk, conducted his
landmark studies in a small garden of his monastery

• He performed thousands of crosses and kept

meticulously accurate records that included
quantitative analysis

• Mendel chose the garden pea (Pisum sativum) to

study the natural laws governing plants hybrids

• The garden pea was advantageous because:

6
 Mendel Chose Pea Plants as His Experimental Organism
White

• Mendel carried out two types Remove anthers

of crosses from purple flower.

1. Self-fertilization, “self- Anthers

cross; self”: Transfer pollen

from anthers of
white flower to
Parental the stigma of a
generation Purple purple flower.

Cross-pollinated flower
produces seeds.

2. Cross-fertilization, “cross”:
Plant the seeds.

First-
generation
offspring

Distinguish between the two genetically?

Copyright © The McGraw-Hill Companies, Inc.. Figure 2.3 7
 Mendel Studied Seven True Breeding Characters
A variety that produces the same trait over several
Morphological characteristics generations of self fertilization
each character had 2 different
traits/variants

CHARACTER VARIANTS CHARACTER VARIANTS

Seed color
Yellow Green

Height

Seed shape
Round Wrinkled
Tall Dwarf

Pod color
Flower color Green Yellow

Purple White
Pod shape
Smooth Constricted

Flower position

Axial Terminal
Copyright © The McGraw-Hill Companies, Inc.
Figure 2.4 8
• What is hybridization and what are hybrids?:

9
 Monohybrid Cross

• Mendel’s first experiments involved

crossing two variants of the same
characteristic

• One characteristic is being observed

• What characteristic is being observed

here?

• What are the variants?

Figure 2.5 10
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 11
• The data suggested a particulate theory of inheritance and Mendel
postulated the following:
1. A pea plant contains two discrete hereditary factors for a
given character, one from each parent

2. The two factors may be identical or different

3. When the two factors of a single character are different and

present in the same plant
– One variant is dominant and its effect can be seen
– The other variant is recessive and is not seen

12
Mendel’s Law of Segregation

4. During gamete formation, the

paired factors for a given character
segregate so that half of the
gametes receive one factor and half
of the gametes receive the other

• One copy of each gene is found in

a gamete

• At fertilization, two gametes

combine randomly producing
different allele combinations.
13
Figure 2.6
 Punnett Squares
• Grid that enables one to predict the outcome of simple genetic
crosses
Male gametes
T t – What is the
Genotypic ratio?
Female gametes

T TT Tt

– What is the
Phenotypic ratio?
t
Tt tt

14
Q: Using a Punnett square, predict the outcome of the
following:

– Character = seed shape

– Male Parent = wrinkled
– Female Parent = Heterozygous round

• Which trait is dominant, round or wrinkled?

• How can you tell with the information provided?

• Using a Punnett square, determine the genotypic and

phenotypic ratios of the offspring

15
 The Test Cross
• Q: You have a Tall plant, how can you tell if the
genotype is TT or Tt?

• Tell me what cross you would conduct

• What results do you expect?

• What are the expected phenotype ratios?

16
 Dihybrid Cross
• Crossing individual plants that differ in two (2) characters
• For example:
– Character 1 = Seed texture (round vs. wrinkled)
– Character 2 = Seed color (yellow vs. green)
• There are two possible patterns of inheritance for these characters

Always R and Y together R, r and Y, y can pair

and r and y together? OR independently?

17
Figure 2.7
 The experimental procedure for the dihybrid cross

Figure 2.8 18
• Occurrence of “non-parental” phenotypes contradicts
the linkage model, & supports independent
assortment model

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

The F2 generation contains seeds with new combinations

(i.e.: not found in the parentals) = non-parentals
19
• If the genes assort independently
– Then 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

• Two different genes will randomly assort their alleles during the
formation of haploid cells

20
Figure 2.9 21
Punnett squares can also be used to predict the outcome of
crosses involving two independently assorting genes

22
• Independent assortment is also revealed by a dihybrid
test-cross

TY Ty tY ty

TtYy Ttyy ttYy ttyy

ty
Tall, yellow Tall, green Dwarf, yellow Dwarf, green

23
 Loss of function alleles

• An individual with a defective copy of the gene = loss-

of-function alleles

• Unknowingly, Mendel had used seven loss-of-function

alleles in his studies on pea plants

• Loss-of-function alleles are commonly inherited in a

recessive manner

24
 Types of Genetics Screens:
Forward vs. Reverse Genetics

Forward Genetics

Phenotype Genotype
Reverse Genetics

25