Life Sciences 4

Mendel’s Principles of Heredity

Chapter 2
Dr. Joseph Esdin

Model Organisms
•  Organisms used in genetic analysis
•  Easily cultured in the laboratory
•  Life cycle is relatively short
•  Have genetic variability
•  Availability of large collection of mutants

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 Model Organisms
•  Bacteria (Escherichia coli)
•  Bactriophage (T4)
•  Yeast (Saccharomyces cerevisiae)
•  Fruit fly (Drosophila melanogaster)
•  Nematodes (Caenorhabditis elegans)
•  Zebrafish (Danio rerio)

Types of Cells in Multicellular

Organisms
•  Somatic
–  Diploid (2n)
•  Sex Cells (gametes)
–  Haploid (n)

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 Gregor Mendel
•  Performed experiments on the garden
pea Pisum sativum
•  Looked at variety of traits (tall and short,
green and yellow seeds, etc…)
•  He succeeded where other biologists
have failed

Pisum sativum

Stigma
Anthers
( )

Ovules
( ) within
ovary

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Pisum
Cross-
sativum
fertilization:

pollen
transferred, Anthers
dusted onto removed
stigma of previously
recipient

Seed
formation

Seed
germination

The Garden Pea

Tall Short

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 Cross-fertilize tall and dwarf

All the progeny were tall

Self-fertilize progeny

Tall and dwarf appear in 3:1 ratio

Antagonistic Pairs Appearance of Hybrid

(dominant trait)

Seed color (interior)

X
Yellow Green Yellow

Seed shape

Round Wrinkled Round

Flower color

Purple White Purple

Pod color (unripe)

Green Yellow Green

Pod shape (ripe)

Round Pinched Round

Stem length

Long Short Long

Flower position

Along stem At tip of stem Along stem

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 Monohybrid Cross

Single trait is being studied

Monohybrid Cross
Parental (P) (pure-breeding) ×
Yellow peas Green peas
( : pollen) ( : eggs)

First filial (F1)

All yellow

Self-fertilization

Second filial (F2)

6022 yellow : 2001 green
3:1

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 EXPERIMENT

P Generation ×
(true-breeding
parents) Purple White
flowers flowers

F1 Generation
(hybrids)
All plants had
purple flowers

F2 Generation

705 purple-flowered 224 white-flowered

plants plants

What Mendel Concluded

•  Each trait is controlled by a heritable
factor
•  The studied heritable factors exist in
pairs
–  The studied heritable factor exists in
identical or different forms
•  During gametes formation, the two
forms separate

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 What Mendel Concluded
•  The number of heritable factor is
restored when fertilization occurs
•  The combination of heritable factors in
fertilization is random

Modern Genetic Terminology

•  Dominant
•  Recessive
•  Gene
•  Allele
•  Homozygous
•  Heterozygous
•  Filial
•  Genotype
•  Phenotype

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 Law of Segregation
The two alleles for each trait separate during gamete formation

Gametes
(pollen or eggs)
Y
Grows into plant Gamete
formation
YY yellow pea Y
from a pure-breeding
stock
y
Grows into plant Gamete
formation
yy green pea y
from a pure-breeding
stock

Notation
•  Dominant: upper case
•  Recessive: lower case
•  Parental strain: P
•  Filial generation: F1, F2,…
•  Punnett square

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 P Generation

Appearance: Purple flowers White flowers

Genetic makeup: PP pp

Gametes: P p

F1 Generation

Appearance: Purple flowers

Genetic makeup: Pp
Gametes: 1/
2 P 1/
2 p

Sperm
F2 Generation P p

P
PP Pp
Eggs

p
Pp pp

3 1

Phenotype Genotype

Purple PP
1
(homozygous)

3 Purple Pp
(heterozygous)

Purple Pp
(heterozygous)

White pp
1 1
(homozygous)

Ratio 3:1 Ratio 1:2:1

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 TECHNIQUE Test Cross
×

Dominant phenotype, Recessive phenotype,

unknown genotype: known genotype:
PP or Pp? pp

Predictions

If PP If Pp
or
Sperm Sperm
p p p p

P P
Pp Pp Pp Pp
Eggs Eggs
P p
Pp Pp pp pp

RESULTS

or
All offspring purple 1/2 offspring purple and
1/2offspring white

Problem Set: 2.4

•  An albino corn snake is crossed with a
normal colored corn snake. The
offspring are all normal colored. When
the first generation progeny are crossed
among themselves, they produced 32
normal colored snakes and 10 albino
snakes
–  Which of these phenotypes is controlled by
the dominant allele? (use “A” and “a”)
–  Show the result of the crosses

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 Problem Set: 2.4
•  A normal colored female snake is
involved in a test cross. This cross
produces 10 normal colored snakes and
11 albino offspring
–  What are the genotype of the parents and
the offspring?

Problem Set
•  A woman has a rare abnormality of the
eyelids called ptosis, which prevents her from
opening her eyes completely. This condition
is caused by a dominant allele, P. The
woman’s father had ptosis, but her mother
had normal eyelids. Her father’s mother had
normal eyelids.
–  What are the genotypes of the woman, her father,
and her mother?
–  What proportion of the woman’s children will have
ptosis if she marries a man with normal eyelids?

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 Dihybrid Cross
•  Dihybrid cross generates a unique F2
ratio

EXPERIMENT
P Generation YYRR yyrr

Gametes YR × yr

F1 Generation
YyRr

Hypothesis of Hypothesis of
dependent independent
Predictions
assortment assortment

or Sperm
Predicted 1/ 1/ 1/
1/
4 YR 4 Yr 4 yR 4 yr
offspring of Sperm
F2 generation 1/
2 YR
1/
2 yr
1/
4 YR
YYRR YYRr YyRR YyRr
1/
2 YR
YYRR YyRr 1/
4 Yr
Eggs YYRr YYrr YyRr Yyrr
1/
2 yr Eggs
YyRr yyrr 1/
4 yR
YyRR YyRr yyRR yyRr
3/ 1/
4 4
1/
4 yr
Phenotypic ratio 3:1 YyRr Yyrr yyRr yyrr
9/ 3/ 3/ 1/
16 16 16 16

Phenotypic ratio 9:3:3:1

RESULTS
315 108 101 32 Phenotypic ratio approximately 9:3:3:1

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 Ratio of Dihybrid Cross
•  Genotype vs. phenotype ratio

Law of Independent
Assortment
•  During gamete formation, segregating
pairs of unit factors assort
independently of each other

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 Allele
Allele for purple flowers

Homologous
Locus for flower-color gene pair of
chromosomes

Allele for white flowers

The Chromosomal Theory of

Inheritance
•  In the early 20th century hybridization
experiments similar to Mendel’s were
performed independently
•  The principle of segregation was
demonstrated in few plant species

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 The Science of Genetics

Gregor Mendel Carl Correns Hugo de Vries Erich von Tschermak

The Chromosomal Theory of

Inheritance
•  The idea that genetic material in living
organisms is contained in chromosomes
•  Chromosome number is reduced in
gametes during meiosis
•  The chromosomes number double
again when the gametes combine

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 P Generation Yellow-round Green-wrinkled
seeds (YYRR) seeds ( yyrr)
Y
y

× r
R
R
r
Y
y

Meiosis

Fertilization
R Y y
r
Gametes

All F1 plants produce

yellow-round seeds (YyRr)

F1 Generation
R R
y
y

r r
Y Y
LAW OF SEGREGATION Meiosis LAW OF INDEPENDENT
The two alleles for each gene ASSORTMENT Alleles of genes
separate during gamete R r r R on nonhomologous
formation. chromosomes assort
Metaphase I
independently during gamete
Y y
Y y
formation.
1 1
R r r R

Anaphase I
Y y
Y y

R r Metaphase II r R

2 2
Y y
Y y

Y y
Y
Y y
Y y
y

Gametes r
R R r r r R R

1/ 1/ yr
1/ 1/
4 YR
4 4 Yr
4 yR

F2 Generation
An F1 × F1 cross-fertilization
3 3

9 :3 :3 :1

Problem Set
•  Jimsonweed plants have either white or
purple flowers and spiny or smooth
pods. When purple spiny plants were
crossed, the obtained results were as
follows
–  94 purple spiny, 32 white spiny, 28 purple
smooth, 11 white smooth
•  Explain the results

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 Problem Set
•  Jimsonweed plants have either white or
purple flowers and spiny or smooth
pods. You cross purple spiny with white
spiny. The results are as follows:
–  34 purple spiny, 30 white spiny
•  Explain the results

Probability
•  How many different gametes can form
from the following
–  Aa bb CC DD
–  AA Bb Cc dd
–  Aa Bb Cc Dd

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 Probability
•  What is the probability of producing a
child who will phenotypically resemble
either one of the two parents in the
following cross
–  Aa Bb Cc Dd x aa bb cc dd

Probability
•  What is the probability of producing a
child that will phenotypically resemble
either one of the two parents in the
following cross
–  Aa Bb Cc Dd x Aa Bb Cc Dd

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 Pedigree Analysis
•  The traditional way to study inheritance
•  Involves the construction of a family tree
•  Indicates the presence or absence of
the trait in question in members of the
the family tree

Pedigree

Key
Male Affected Mating
male
Offspring, in
Female Affected birth order
female (first-born on left)

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 Pedigree
Male
Female Unaffected
Sex unspecified
Diseased Deceased
5 3 14 Multiple progeny Consanguineous
mating

Mating line
Generation I
1 2
Sibship line Line of descent
Generation II
1 2 Individual number within generation

Pedigree

Fraternal (dizygotic twins) Identical (monozygotic twins)

Sex may be the same or different Sex must be the same

Proband

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 Huntington Disease
•  Named after George Huntington who
described its course
•  Late onset genetic condition
–  Shows up in middle age and destroys its
victims

Huntington Disease
•  Gene located on chromosome 4
•  Due to degeneration of neurons
•  Mental deterioration, depression, and
jerky movement
•  Autosomal dominant
•  Huntingtin mutation
•  Huntingtin is a protein that is important
in transcription, signaling, and transport

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 Huntington Disease
HD+ HD+
I HD -

1 2
HD+ HD+

II HD HD+ HD+ HD+ HD HD+

1 2 3 4

III HD+ HD+

1 2 3 4 5 6 7 8 9
HD HD+ HD HD+ HD+ HD+ HD+ HD+

IV
1
HD HD+
2 3 4 5 6
HD HD+ HD+ HD+ HD HD+

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V
1 2 3
HD+ HD+ HD HD+ HD HD+

How to Analyze a Pedigree

•  Is this dominant or recessive
•  What is the genotype of each family
member

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Recessive Trait

Albinisim

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 Mendelian Segregation in
Human Families
•  If you have a couple who are each
heterozygous for a recessive allele
•  If the couple were to have four children,
would we expect to have 3 unaffected
and one affected?

•  There are 5 distinct possibilities

Mendelian Segregation in
Human Families
•  1. Four unaffected, 0 affected
•  2. Three unaffected, one affected
•  3. Two unaffected, two affected
•  4. One unaffected, three affected
•  5. 0 unaffected, four affected

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 Problem Set
•  In a family with three children, what is
the probability that two are boys and
one is a girl?

Problem Set
•  Phenylketoneuria is a metabolic disease in
humans caused by a recessive allele k. If two
heterozygous parents carry the recessive
allele, marry and plan to have five children
–  What is the chance that their children are
unaffected?
–  What is the chance that four of the children will be
unaffected and one affected
–  What is the chance that the first child is an
unaffected girl

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 Assigned Problems
•  4, 5, 6, 7, 8, 10, 13, 14, 15, 16, 18, 19,
20, 22, 23, 24, 25, 26, 27, 28, 29, 30,
31, 32

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