BIOLOGY II

SBU 3023
TOPIC 3
OBSERVING PATTERNS AND
INHERITED TRAITS

CONTENT
Mendels insight into inheritance patterns
Mendels theory of segregation
Independent assortment
More patterns
Complex variations
Genes and environment.

MEIOSIS
Meiosis consists of two segregation: I and II.
First segregation - homologous chromosomes segregate.
Second segregation - sister chromatids segregate.
Occurs during gamete formation.

MENDELS INSIGHT INTO INHERITANCE

PATTERNS
Factor = allele
Mendels experimental procedure
Used garden pea, Pisum sativa
Easy to cultivate, short generation time
Normally self-pollinate but can be crosspollinated by hand
Chose true-breeding varieties offspring were like
the parent plants and each other.
Kept careful records of large number of
experiments
His understanding of mathematical laws of
probability helped interpret results.
Particulate theory of inheritance based on the
existence of minute particles (genes)

Figure 1: Garden pea

anatomy and traits

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stigma
anther
ovary

Pollen grains containing sperm are

produced in the anther . When pollen
grains are brushed onto the stigma,
sperm fertilizes eggs in the ovary .
Fertilized eggs are located in ovules,
which develop into seeds.

a. Flower structure

Figure 1 (continued..)

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Cut away anthers.

Brush on pollen from

another plant.

The results of cross from a

parent that produces round,
yellow seeds parent that
produces wrinkled
yellow seeds.
b. Cross pollination

MENDELS THEORY OF SEGREGATION

Factors are inherited from parents
Alleles or factors segregate during gamete formation.
Each gamete has one set of factors.
One-trait inheritance
Original parents called P generation
First-generation offspring F1 generation
Second-generation offspring F2 generation
Crossed tall pea plants with short pea plants
All F1 are tall
Had shortness disappeared?

Figure 2: One-trait cross

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P generation

P gametes

F1 generation
All plants are tall.

TT

tt

Tt

Punnett square
Shows all possible combinations of egg and sperm
offspring may inherit
When F1 allowed to self-pollinate, F2 were 3/4 tall and
1/4 short
F1 had passed on shortness.
Mendel reasoned 3:1 ratio only possible if:
F1 parents contained 2 separate copies of each
heritable factor (1 dominant and 1 recessive).
Factors separate when gametes form and each
gamete carries only 1 copy of each factor.
Random fusion of all possible gametes occurred at
fertilization.

Figure 2 (Continued)
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eggs
F1 gametes

TT

Tt

Tt

tt

F2 generation

sperm

offspring

F2 Phenotypic Ratio
3 tall : 1 short

Key:
T = tall plant
t = short plant

One-trait testcross
To see if the F1 carries a recessive factor, Mendel
crossed his F1 generation tall plants with truebreeding, short plants.
He reasoned that half the offspring would be tall
and half would be short.
His hypothesis that factors segregate when
gametes are formed was supported..
Testcross
Used to determine whether or not an individual
with the dominant trait has two dominant factors
for a particular trait

One-trait testcross
If a parent with the dominant phenotype has only
one dominant factor, the results among the
offspring are 1:1.
If a parent with the dominant phenotype has two
dominant factors, all offspring have the dominant
phenotype.

Figure 3: One-trait testcross

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Parents

Parents

Possible
genotypes

Tt

tt

Tt

tt

Phenotypes

Phenotypic Ratio
a.

TT
Possible
genotype

tt

Tt

Phenotype

1 tall : 1 short

All tall plants

b.

MENDELS THEORY OF SEGREGATION

The

law of segregation states the following:

Each individual has two factors for each trait.

The factors segregate (separate) during the
formation of the gametes.
Each gamete contains only one factor from each pair
of factors.
Fertilization gives each new individual two factors
for each trait.

The modern genetics view

Scientists note parallel between Mendels
particulate factors and chromosomes.
Chromosomal theory of inheritance
Chromosomes are carriers of genetic information.
Traits are controlled by discrete genes that occur on
homologous pairs of chromosomes at a gene locus.
Each homologue holds one copy of each gene pair.
Meiosis explains Mendels law of segregation and
why only one gene for each trait is in a gamete.
When fertilization occurs, the resulting offspring
again have two genes for each trait, one from each
parent.

Figure 4: Homologous chromosomes

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sister
chromatids

alleles of a
gene at a
gene locus

a. Various alleles are

located at specific loci.

b. Duplicated chromosomes
show that sister chromatids
have identical alleles.

GENOTYPE VERSUS PHENOTYPE

Genotype alleles individual receives at fertilization
Homozygous 2 identical alleles
Homozygous dominant
Homozygous recessive
Heterozygous 2 different alleles
Phenotype physical appearance of individual
Mostly determined by genotype

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Allele A
Allele B
Allele C

Additive effect of dominant

alleles on phenotype

MENDEL'S LAW OF INDEPENDENT

ASSORTMENT

Two-trait inheritance
Mendel crossed tall plants with green pods (TTGG)
with short plants with yellow pods (ttgg).
F1 plants showed both dominant characteristics
tall and green pods
2 possible results for F2
If the dominant factors always go into gametes
together, F2 will have only 2 phenotypes.
Tall plants (TT) with green pods (GG)
Short plants (tt) with yellow pods (gg)
If four factors segregate into gametes
independently, 4 phenotypes would result.

Figure 5: Two-trait cross done by Mendel

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P generation

P gametes

F1 generation
All plants are tall
with green pods.

TTGG

ttgg

TG

tg

TtGg

Figure 5 (continued)
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eggs
F1 gametes

TG

Tg

tG

tg

TTGG

TTGg

TtGG

TtGg

TTGg

TTgg

TtGg

Ttgg

TtGG

TtGg

ttGG

ttGg

TtGg

Ttgg

ttGg

ttgg

TG

F2 generation

sperm

Tg

tG

tg

offspring
F2 Phenotypic Ratio
9 tall plant, green pod
3 tall plant, yellow pod
3 short plant, green pod
1 short plant, yellow pod

Key:
T = tall plant
t = short plant
G = green pod
g = yellow pod

Based on the results, Mendel formulated his second

law of heredity:
Law of independent assortment
Each pair of factors segregates (assorts)
independently of the other pairs.
All possible combinations of factors can occur in
the gametes.
When all possible sperm have an opportunity to
fertilize all possible eggs, the expected phenotypic
results of a two-trait cross are always 9:3:3:1.

Two-trait testcross
Fruit fly Drosophila melanogaster
Used in genetics research
Wild-type fly has long wings and gray body.
Some mutants have vestigial wings and ebony
bodies.
L=long, l=short, G= gray, g=ebony
Cant determine genotype of long-winged graybodies fly (L_G_)
Cross with short-winged ebony-bodied fly (llgg)

Figure 7: Two-trait testcross

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P generation
LlGg

llgg
eggs
lg

LG
LlGg

Lg

F1 generation

sperm

In this example, 1:1:1:1 ratio

of offspring indicates L_G_ fly
was LlGg (dihybrid).

Llgg

lG
llGg

lg
llgg
offspring
F1 Phenotypic Ratio
1
1
1
1

long wings, gray body

long wings, black body
short wings, gray body
short wings, black body

Key:
L = long wings
l = short wings
G = gray body
g = black body

MENDEL'S LAW OF PROBABILITY

Punnet square assumes
Each gamete contains one allele for each trait.
Law of segregation
Collectively the gametes have all possible
combinations of alleles.
Law of independent assortment
Male and female gametes combine at random.
Use rules of probability to calculate expected
phenotype ratios.
Rule of multiplication - chance of two (or more)
independent events occurring together is the product
of their chances of occurring separately.
Coin flips odd of getting tail is 1/2, odds of getting
tails when you flip 2 coins 1/2 x 1/2= 1/4.

MORE PATTERNS OF INHERITANCE

Follow Mendel or modified!!

Figure 8: Mendels laws and

1. Mendels laws and
meiosis
meiosis
Dominant
Recessive
Gene for earlobes
and hairline on
different
chromosomes
Gametes have all
possible combination
Unattached earlobes: EE or Ee Attached earlobes: ee
of alleles.

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Widows peak: WW or Ww Straight hairline: ww

(earlobes, both): The McGraw-Hill Companies, Inc./John Thoeming, photographer; (widow's peak):
SuperStock; (straight): Michal Grecco/Stock Boston

Figure 8 (continued..potential gametes produced by a

person who is EeWw)
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Key:
W = widows peak
w = straight hairline
E = unattached earlobes
e = attached earlobes

Parent cell has two pairs

of homologues.

E
one
pair

one
pair

w
e

either

or

Meiosis I
E

W w

w W

Homologues can
align either way
during metaphase I.

Meiosis II

W
EW

w
ew

Ew

W
eW

All possible combinations

of chromosomes and
alleles result.

2. Beyond Mendels Laws

1. Incomplete dominance
Heterozygote has
intermediate
phenotype.
Four-oclock flowers
Red, pink and white
NOT blending
inheritance pink
flowers can have red,
white or pink
offspring.
Human wavy hair is
intermediate between
curly and straight hair.

Figure 9: Incomplete
dominance in four-oclocks
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required for reproduction or display.

C RC R

CRCW

CWCW

2. Multiple-allele traits

ABO blood group inheritance has 3 alleles.

IA = A antigen on red blood cells
IB = B antigen on red blood cells
i = neither A or B antigen on red blood cells
Each person has only 2 of the 3 alleles.
Both IA and IB are dominant to i
IA and IB are codominant both will be expressed
equally in the heterozygote.

Figure 10: Inheritance of ABO blood type

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Type A = IAIA, IAi

Type B = IBIB, IBi
Type AB = IAIB
Type O = ii

Parents

IBi

IAi

eggs
i

IB

IAlB

IBi

IAi

ii

sperm

IA

offspring
Phenotypic Ratio
1 :1 :1 :1

Key:
Blood type A
Blood type B

Blood type AB
Blood type O

GENES AND ENVIRONMENT

Polygenic inheritance
Trait is governed by 2 or more sets of alleles.
Each dominant allele has a quantitative effect
on phenotype and effects are additive.
Result in continuous variation bell-shaped
curve
Multi-factorial traits polygenic traits subject
to environmental effects
Cleft lip, diabetes, schizophrenia, allergies,
cancer
Due to combined action of many genes plus
environmental influences

Figure 11: Height in humans, a polygenic trait

Number of Men

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most
are
this
height

few
62
short

64

few
66

68

70
Height in Inches

72

74
tall

Courtesy University of Connecticut, Peter Morenus, photographer

GENES AND ENVIRONMENT

Environment and the phenotype

Relative importance of each can vary.
Temperature can effect coat color.
Rabbits homozygous for ch have black fur where
the skin temperature is low.
Enzyme encoded by gene is active only at low
temperatures.

Figure 12: Coat color in Himalayan rabbits

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GENES AND ENVIRONMENT

Pleiotropy
Single genes have more than one effect.
Marfan syndrome is due to production of abnormal
connective tissue.

Figure 13: Marfan syndrome, multiple effects of a single

human gene

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Connective tissue defects

Skeleton

Chest wall deformities

Long, thin fingers, arms, legs
Scoliosis (curvature of the spine)
Flat feet
Long, narrow face
Loose joints

Heart and blood vessels

Mitral valve
prolapse

Enlargement
of aorta

Eyes

Lungs

Skin

Lens dislocation
Severe nearsightedness

Collapsed lungs*

Stretch marks in skin

Recurrent hernias
Dural ectasia: stretching
of the membrane that
holds spinal fluid

Aneurysm
Aortic wall tear*

(tissue): Ed Reschke; (athlete): AP/Wide World Photos

SEX-LINKED INHERITANCE
Females are XX.
All eggs contain 1 X.
Males are XY.
Sperm contain either an X or a Y.
Y carries SRY gene determines maleness.
X is much larger and carries more genes.
X-linked gene on X chromosome

Figure 14: Inheritance of gender in human beings

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44 autosomes
+ XX

44 autosomes
+ XY

egg

22 + X

sperm

22 + X

44 + XX

22 + X

44 + XY
Ryan McVay/Getty RF

X-linked alleles
Fruit flies have same sex chromosome pattern as
humans.
When red-eyed female mated white mutant whiteeyed male, all offspring were red-eyed.
In the F2, the 3:1 ratio was found but all of the
white-eyed flies were males.
Y chromosome does not carry alleles for X-linked
traits.
Males always receive X from female parent, Y from
male parent.
Carrier female who carries an X-linked trait but
does not express it.

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Figure 15: X-linked

inheritance

P generation
XRXR

XrY

P gametes

Xr

XR

F1 generation
XRY

XRXr

eggs

F1 gametes

XR

Xr

XRXR

XRXr

XRY

XrY

F2 generation

sperm

XR

offspring
F2 Phenotypic Ratio
females: all red-eyed
males: 1 red-eyed
1
white-eyed

Key:
XR = red eyes
Xr = white eyes

INHERITANCE OF LINKED GENES

Some fruit fly crosses violated the law of independent
assortment.
Offspring simply resembled one of the parents.
2 traits on same chromosome gene linkage
2 traits on same chromosome do NOT segregate
independently.
Recombination between linked genes

Linked alleles stay together heterozygote forms only 2

types of gametes, produces offspring only with 2
phenotypes.

Figure 16: Linked alleles and crossing-over

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sister
chromatids

G g

G g

G G g g

R r

R r

R R r r

tetrad

alleles
are linked

a. Linked alleles usually stay together

resulting
daughter
chromosomes

Occasionally crossing-over produces new combinations.

Nonsister chromatids exchange genes.
Recombinant gametes have a new combination of
alleles.

Figure 16 (continued)
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nonsister
chromatids

G g

Gg G g

R r

RR r r

linked alleles
sometimes cross-over

resulting
tetrad
daughter
chromosomes
b. Crossing-over results in recombination of alleles

Distance between genes

The closer 2 genes are on a chromosome, the less
likely they are to cross-over.
You can use the percentage of recombinant
phenotypes to determine the distance between
genes.
1% crossing-over = 1 map unit.
In a black-body and purple-eye cross, 6% of
offspring are recombinant = genes are 6 map units
apart.
Results can make a chromosome map.

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P generation

Offspring

GgRr

ggrr

Predicted

Observed

25%

47%

25%

47%

25%

3%

25%

3%

GgRr

ggrr

Ggrr

ggRr

F1 Phenotypic Ratio
1
1
1
1

gray body, red eyes

black body, purple eyes
gray body, purple eyes
black body, red eyes

Key:
G = gray body
g = black body
R = red eyes
r = purple eyes

Figure 17: Linked alleles

do not assort
independently

Figure 18: Mapping chromosomes

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black
body

purple
eyes

6 map units

vestigial
wings

12.5 map units

18.5 map units