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Chapter 8

Mendel’s Laws
Chromosomal Behaviors
Sex Linked Genes

Patterns of Inheritance

Genetics is the study of how traits

are passed from parent to offspring

Heredity: the tendency for traits to

be passed from parent to offspring
heritable features: characters GENES

Traits: alternative forms of a character

Allele
Locus: Gene address
Phenotype
Genotype

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 Law of Dominance
• In a heterozygote, one trait will conceal the
presence of another trait for the same
characteristic.
• Only dominant allele is expressed
• Recessive allele remains latent

Law of Segrega+on
During meiosis genes
separately equally into
gametes

so that half of the gametes will

carry one copy and half will
carry the other copy

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 Why study
peas?

Why study the garden pea?

• many varieties/ easily distinguishable

traits that can be quantified
• small, easy to grow, and produce large
numbers of offspring quickly
• their reproductive organs easily
manipulated so that pollination can be
controlled
• self-fertilize

1 Stamen removed 2 Pollen transfer

Parents
Stamens
(P) Carpel

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 1 Stamen removed 2 Pollen transfer

Figure 9.2c_2

Parents
Stamens
(P) Carpel

3 Carpel matures
into pod

1 Stamen removed 2 Pollen transfer

Parents
Stamens
(P) Carpel

3 Carpel matures
into pod

4 Seed from
pod planted
5 Offspring traits
observed
Offspring
(F1)

Character Traits

Dominant Recessive

Flower color
Purple White

Flower position

Axial Terminal

Seed color
Yellow Green

Seed shape
Round Wrinkled

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1st: establish true-breeding varieties
• Plants self-fertilize for several
generations, (each variety had only 1
type of trait)
• pure lines: P generation
– Mating P generation è F1
– F1 generation self-fertilize
•èF2 generation

How Mendel conducted his experiments

The Experiment
P generation Figure
(true-breeding
parents)
× 9.3a_1
Purple flowers White flowers

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 The Experiment
P generation Figure
(true-breeding
parents)
× 9.3a_2
Purple flowers White flowers

F1 generation All plants have

(hybrids) purple flowers

The Experiment
P generation
(true-breeding
×
parents)
Purple flowers White flowers

F1 generation All plants have

(hybrids) purple flowers

Fertilization
among F1 plants
(F1 × F1)
F2 generation

3 1
4 of plants 4 of plants
have purple flowers have white flowers

for each pair of contrasting varieties that

he crossed, one of the traits
disappeared in the F1 gen but
reappeared in the F2 gen
trait expressed in F1 gen: dominant

trait not expressed in F1 gen: recessive

trait

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 – ¾ of F2 individuals expressed the
dominant trait (75%)

– 1/4 expressed the recessive trait

– the dominant:recessive ratio among

the F2 plants was always close to 3:1

Why was the trait not expressed in the

F1 but was seen in F2 generation?

He allowed the F2 to self-fertilize and form the F3

generation
¼ of the plants from the F2 that were
recessive were true-breeding in the F3

Of the ¾ of the plants (dominant) from the F2

• Only 1/3 were true breeding in the F3
• the remaining half showed both traits

The Explanation
P generation Genetic makeup (alleles)
Purple flowers White flowers
PP pp

Gametes All P All p

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 The Explanation
P generation Genetic makeup (alleles)
Purple flowers White flowers
PP pp

Gametes All P All p

F1 generation All Pp

Alleles
1 segregate 1
Gametes 2 P 2
p

The Explanation
P generation Genetic makeup (alleles)
Purple flowers White flowers
PP pp

Gametes All P All p

F1 generation All Pp

Alleles
1 segregate 1
Gametes 2 P 2
p

F2 generation
Sperm from F1 plant P p
Results:
Phenotypic ratio P PP Pp
3 purple:1 white Eggs
from F1
plant Pp pp
p
Genotypic ratio
1 PP:2 Pp:1 pp Results

Figure 9.3b_4
F2 generation
Sperm from p
P
Results: F1 plant

Phenotypic ratio P PP Pp
3 purple:1 white Eggs
from F1
plant
p Pp pp
Genotypic ratio
1 PP:2 Pp:1 pp
Results

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 Gene loci Dominant
allele
P a B

Homologous
chromosomes

P a b
Recessive
allele
Genotype: PP aa Bb
Homozygous Homozygous Heterozygous,
for the for the with one dominant
dominant recessive and one recessive
allele allele allele

Mendel’s law of independent

assortment explains why a
punnet square works
• A cross between two individuals that are
heterozygous for one character is called a
monohybrid cross.
• A dihybrid cross is a mating of parental
varieties that differ in two characters.

© 2018 Pearson Education, Inc.

DIHYBRID
CROSS
F1 generation RrYy

Sperm
1 RY 1 rY 1 Ry 1 ry
4 4 4 4

1 RY
4
RRYY RrYY RRYy RrYy
Results:
1 rY Yellow
4 9
RrYY rrYY RrYy rrYy 16 round
Eggs
3 Green
1 Ry round
16
4 RrYy
RRYy RRyy Rryy 3 Yellow
1 ry 16 wrinkled
4 1 Green
RrYy rrYy Rryy rryy 16 wrinkled
The hypothesis of independent assortment
Actual results; hypothesis supported

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 Test Cross
• Determine the genotype of unknown
individuals in the F2 gen
• unknown individual X homozygous recessive individual
– If unknown is homozygousè
100% offspring express dominant
traits
– If unknown is heterozygousè1/2 of
offspring will express recessive traits

Pedigrees
can determine whether a trait is sex-
linked or autosomal and whether the
trait’s phenotype is dominant or
recessive
for example, hemophilia is a sex-linked
trait
.

Straight hairline Widow’s peak

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 Female Male
Widow’s peak hairline trait H: widow’s peak allele
Mating Straight hairline trait h: straight allele

1ST
GENERATION
Al Beth Charles Debbie

Children 2ND
GENERATION

Evelyn Frank Gary Henry Isabel Julia

Straight hairline 3RD Widow’s peak

GENERATION

Kristin Libby

Female Male
Widow’s peak hairline trait H: widow’s peak allele
Straight hairline trait h: straight allele

1ST
GENERATION
Al Beth Charles Debbie
Hh Hh hh Hh

2ND
GENERATION

Evelyn Frank Gary Henry A parent with a widow’s Isabel Julia

peak who has a child
Hh hh hh Hh with a straight hairline Hh hh
or must be Hh.
Hh
Straight hairline 3RD Widow’s peak
GENERATION

Kristin has a straight

Kristin hairline but her parents Libby
hh do not, so straight hairline HH
must be homozygous or
recessive (hh). Hh

Female Male
Widow’s peak hairline trait H: widow’s peak allele
Straight hairline trait h: straight allele

1ST
GENERATION
Al Beth Charles Debbie
Hh Hh hh Hh

2ND
GENERATION

Evelyn Frank Gary Henry Isabel Julia

Hh hh hh Hh Hh hh
or
Hh
Straight hairline 3RD Widow’s peak
GENERATION

Not all genotypes can be

determined. Libby could be
Kristin HH or Hh and there is no Libby
hh way to know (unless she HH
has some children and the or
pedigree is extended). Hh

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 Some Autosomal disorders in
humans

Dominant Traits Recessive Traits

Many traits
in humans
are
Freckles No freckles
controlled
by a single
gene.

Normal More common

Albinism
pigmentation Less common

New technologies
• Genetic Testing
• Fetal Testing
–CVS
–Fetal Imaging
–Amniocentesis
–Newborn Screeing

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 Amniocentesis Chorionic Villus Sampling (CVS)
Ultrasound Needle extracts Suction tube
transducer amniotic fluid. Ultrasound extracts tissue
transducer from chorionic villi.

Fetus Fetus
Placenta
Placenta
Chorionic
Uterus Cervix villi Cervix
Uterus
Centrifugation
Amniotic fluid
Fetal cells Fetal cells
Several Biochemical
hours and genetic
Cultured cells tests
Several Several
weeks hours

Several Several
weeks hours
Karyotyping

Figure 9.10b

MOST GENES DO NOT

FOLLOW MENDEL’S
LAWS

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Not all alleles are
dominant or recessive in
heterozygotes
some alleles exhibit
incomplete dominance:

• produce a heterozygous
phenotype (intermediate
between 2 parents)

Codominance:
often, in heterozygotes, there is not a
dominant allele but, instead, both alleles are
expressed
• these alleles are said to be codominant

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Pleiotropic effects
–an allele that has more
than one effect on a
phenotype
– Sickle cell & NON sickle
cell alleles are
CODOMINANT

Eukaryocytes (RBCs)
SEM 1,045×

Sickle Cell Disease

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 An individual homozygous for the sickle-cell allele

Produces sickle-cell (abnormal) hemoglobin

The abnormal hemoglobin crystallizes,

causing red blood cells to become sickle-shaped

The mutiple effects of sickled cells

Damage to organs Other effects

Kidney failure Pain and fever
Heart failure Joint problems
Spleen damage Physical weakness
Brain damage (impaired Anemia
mental function, paralysis) Pneumonia and other
infections

Some Traits Don’t Show

Mendelian Inheritance

• Polygenic Inheritance:
– characters can show a range of small
differences when multiple genes act
jointly to influence a character

Phenotypes show Continuous

Variation:

Skin Color is an example of

Polygenic Inheritance.

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 Polygenic P generation
×
Inheritance
aabbcc AABBCC
of Skin (very light) (very dark)

Color

F1 generation

AaBbCc AaBbCc
(medium (medium
shade) shade)

Sperm
1 1 1 1 1 1 1 1
8 8 8 8 8 8 8 8
F2 generation 1
8
1
8
1
8
1
A model Eggs 8
1
for the 8
1
polygenic 8
1
inheritance 8
1

of skin 8

color
1 6 15 20 15 6 1
64 64 64 64 64 64 64

20
64

15
64
Fraction of population

6
64

1
64
Skin color

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some alleles
are heat-
sensitive

Linkage violates the law of

Independent Assortment

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 Linkage: the tendency of close-
together genes to separate together
– the further two genes are from each other
on the same chromosome,
– the more likely crossing over is to occur
between them
– the closer two genes are to each other on
the same chromosome,
– the less likely that crossing over will
occur between them

Linkage Example
Red Hair/Green eyes
Fair Skin

Crossing over produces new

combinations of alleles
• Crossing over between homologous
chromosomes produces new combinations
of alleles in gametes.
• Linked genes can be separated by
crossing over, forming recombinant
gametes.
• The percentage of recombinant offspring
among the total is the recombination
frequency.
© 2018 Pearson Education, Inc.

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Chromosomes determine sex in
many species
• In mammals, a male has XY sex
chromosomes, and a female has XX.
– Y chromosome has genes for the
development of testes,
– No Y: allows ovaries to develop.
– human males and females both have 44
autosomes (nonsex chromosomes).
• Other systems of sex determination
exist in other animals and plants.
.

In some animals, environmental

temperature determines the sex.
–For some reptiles, the temperature
at which eggs are incubated
determines whether that embryo will
develop into a male or female.
–Global climate change may
therefore impact the sex ratio of
such species.

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 A gene located on either sex
chromosome is called a sex-
linked gene.
• Most X-linked human disorders are due to
recessive alleles and therefore are seen
mostly in males.
– A male receiving a single X-linked recessive
allele from his mother will have the disorder.
– A female must receive the allele from both
parents to be affected.

• Most X-linked human disorders are

due to recessive alleles and
therefore are seen mostly in males.
• A male receiving a single X-linked
recessive allele from his mother
will have the disorder.
• A female must receive the allele
from both parents to be affected.
© 2018 Pearson Education, Inc.

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