Transcript RR - SHSBio1

Mendelelian
Genetics
1
Gregor Mendel
(1822-1884)
Responsible
for the Laws
governing
Inheritance of
Traits
2
Gregor Johann Mendel
Austrian monk
Studied the
inheritance of
traits in pea plants
Developed the laws
of inheritance
Mendel's work was
not recognized until
the turn of the
20th century
3
Gregor Johann Mendel
Between 1856 and
1863, Mendel
cultivated and
tested some 28,000
pea plants
He found that the
plants' offspring
retained traits of
the parents
Called the “Father
of Genetics"
4
Site of
Gregor
Mendel’s
experimental
garden in the
Czech
Republic
5
Particulate Inheritance
Mendel stated that
physical traits are
inherited as “particles”
Mendel did not know
that the “particles”
were actually
Chromosomes & DNA
6
Types of Genetic Crosses
 Monohybrid cross - cross
involving a single trait
e.g. flower color
 Dihybrid cross - cross involving
two traits
e.g. flower color & plant height
7
Punnett Square
Used to help
solve genetics
problems
8
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Genetic Terminology
 Trait - any characteristic that
can be passed from parent to
offspring
 Heredity - passing of traits
from parent to offspring
 Genetics - study of heredity
10
 Alleles - two forms of a gene
(dominant & recessive)
 Dominant - stronger of two genes
expressed in the hybrid;
represented by a capital letter (R)
 Recessive - gene that shows up less
often in a cross; represented by a
lowercase letter (r)
11
 Genotype - gene combination
for a trait (e.g. RR, Rr, rr)
 Phenotype - the physical
feature resulting from a
genotype (e.g. red, white)
12
Genotypes
 Homozygous genotype - gene
combination involving 2 dominant
or 2 recessive genes (e.g. RR or
rr); also called pure or purebred
 Heterozygous genotype - gene
combination of one dominant &
one recessive allele
(e.g. Rr);
also called hybrid
13
Genotype & Phenotype in Flowers
Genotype of alleles:
R = red flower
r = yellow flower
All genes occur in pairs, so 2
alleles affect a characteristic
Possible combinations are:
Genotypes
RR
Rr
rr
Phenotypes
RED
RED
YELLOW
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stop
15
Genes and Environment
Determine Characteristics
16
Mendel’s Pea Plant
Experiments
17
Why peas, Pisum sativum?
Can be grown in a
small area
Produce lots of
offspring
Produce pure plants
when allowed to
self-pollinate
several generations
Can be artificially
cross-pollinated
18
Reproduction in Flowering Plants
Pollen contains sperm
Produced by the
stamen
Ovary contains eggs
Found inside the
flower
Pollen carries sperm to the
eggs for fertilization
Self-fertilization can
occur in the same flower
Cross-fertilization can
occur between flowers
19
Mendel’s Experimental
Methods
Mendel hand-pollinated
flowers using a
paintbrush
He could snip the
stamens to prevent
self-pollination
He traced traits
through the several
generations
20
How Mendel Began
Mendel
produced
pure
strains by
allowing the
plants to
selfpollinate
for several
generations
21
Eight Pea Plant Traits
Seed shape --- Round (R) or Wrinkled (r)
Seed Color ---- Yellow (Y) or Green (y)
Pod Shape --- Smooth (S) or wrinkled (s)
Pod Color --- Green (G) or Yellow (g)
Seed Coat Color ---Gray (G) or White (g)
Flower position---Axial (A) or Terminal (a)
Plant Height --- Tall (T) or Short (t)
Flower color --- Purple (P) or white (p)
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23
24
Mendel’s Experimental Results
25
Did the observed ratio match
the theoretical ratio?
The theoretical or expected ratio of
plants producing round or wrinkled seeds
is 3 round :1 wrinkled
Mendel’s observed ratio was 2.96:1
The discrepancy is due to statistical
error
The larger the sample the more nearly
the results approximate to the
theoretical ratio
26
Generation “Gap”
Parental P1 Generation = the parental
generation in a breeding experiment.
F1 generation = the first-generation
offspring in a breeding experiment. (1st
filial generation)
From breeding individuals from the P1
generation
F2 generation = the second-generation
offspring in a breeding experiment.
(2nd filial generation)
From breeding individuals from the F1
generation
27
Following the Generations
Cross 2
Pure
Plants
TT x tt
Results
in all
Hybrids
Tt
Cross 2 Hybrids
get
3 Tall & 1 Short
TT, Tt, tt
28
stop
29
Monohybrid
Crosses
30
P1 Monohybrid Cross
Trait: Seed Shape
Alleles: R – Round
r – Wrinkled
Cross: Round seeds
x Wrinkled seeds
RR
x
rr
r
r
R
Rr
Rr
R
Rr
Rr
Genotype: Rr
Phenotype: Round
Genotypic
Ratio: All alike
Phenotypic
Ratio: All alike
31
P1 Monohybrid Cross Review
 Homozygous dominant x Homozygous
recessive
 Offspring all Heterozygous
(hybrids)
 Offspring called F1 generation
 Genotypic & Phenotypic ratio is ALL
ALIKE
32
F1 Monohybrid Cross
Trait: Seed Shape
Alleles: R – Round
r – Wrinkled
Cross: Round seeds
x Round seeds
Rr
x
Rr
R
r
R
RR
Rr
r
Rr
rr
Genotype: RR, Rr, rr
Phenotype: Round &
wrinkled
G.Ratio: 1:2:1
P.Ratio: 3:1
33
F1 Monohybrid Cross Review
 Heterozygous x heterozygous
 Offspring:
25% Homozygous dominant RR
50% Heterozygous Rr
25% Homozygous Recessive rr
 Offspring called F2 generation
 Genotypic ratio is 1:2:1
 Phenotypic Ratio is 3:1
34
What Do the Peas Look Like?
35
…And Now the Test Cross
Mendel then crossed a pure & a
hybrid from his F2 generation
This is known as an F2 or test
cross
There are two possible
testcrosses:
Homozygous dominant x Hybrid
Homozygous recessive x Hybrid
36
F2 Monohybrid Cross
st
(1 )
Trait: Seed Shape
Alleles: R – Round
r – Wrinkled
Cross: Round seeds
x Round seeds
RR
x
Rr
R
r
R
RR
Rr
R
RR
Rr
Genotype: RR, Rr
Phenotype: Round
Genotypic
Ratio: 1:1
Phenotypic
Ratio: All alike
37
F2 Monohybrid Cross (2nd)
Trait: Seed Shape
Alleles: R – Round
r – Wrinkled
Cross: Wrinkled seeds x Round seeds
rr
x
Rr
R
r
r
Rr
Rr
r
rr
rr
Genotype: Rr, rr
Phenotype: Round &
Wrinkled
G. Ratio: 1:1
P.Ratio: 1:1
38
F2 Monohybrid Cross Review
 Homozygous x heterozygous(hybrid)
 Offspring:
50% Homozygous RR or rr
50% Heterozygous Rr
 Phenotypic Ratio is 1:1
 Called Test Cross because the
offspring have SAME genotype as
parents
39
Practice Your Crosses
Work the P1, F1, and both F2
Crosses. Pick 2 of the Pea
Plant Traits that Mendel
used. In your answer show
the cross, the punnett
square, and the Genotypic
and Phenotypic ratios for all
three crosses.
40
Mendel’s Laws
41
Results of Monohybrid Crosses
Inheritable factors or genes are
responsible for all heritable
characteristics
Phenotype is based on Genotype
Each trait is based on two genes,
one from the mother and the
other from the father
True-breeding individuals are
homozygous ( both alleles) are the
same
42
Law of Dominance
In a cross of parents that are
pure for contrasting traits, only
one form of the trait will appear in
the next generation.
All the offspring will be
heterozygous and express only the
dominant trait.
RR x rr yields all Rr (round seeds)
43
Law of Dominance
44
Law of Segregation
During the formation of gametes
(eggs or sperm), the two alleles
responsible for a trait separate
from each other.
Alleles for a trait are then
"recombined" at fertilization,
producing the genotype for the
traits of the offspring.
45
Applying the Law of Segregation
46
Law of Independent
Assortment
Alleles for different traits are
distributed to sex cells (&
offspring) independently of one
another.
This law can be illustrated using
dihybrid crosses.
47
Dihybrid Cross
A breeding experiment that tracks
the inheritance of two traits.
Mendel’s “Law of Independent
Assortment”
a. Each pair of alleles segregates
independently during gamete formation
b. Formula: 2n (n = # of heterozygotes)
48
Question:
How many gametes will be produced
for the following allele arrangements?
Remember: 2n (n = # of heterozygotes)
1. RrYy
2. AaBbCCDd
3. MmNnOoPPQQRrssTtQq
49
Answer:
1. RrYy: 2n = 22 = 4 gametes
RY
Ry
rY ry
2. AaBbCCDd: 2n = 23 = 8 gametes
ABCD ABCd AbCD AbCd
aBCD aBCd abCD abCD
3. MmNnOoPPQQRrssTtQq: 2n = 26 = 64
gametes
50
Dihybrid Cross
Traits: Seed shape & Seed color
Alleles: R round
r wrinkled
Y yellow
y green
RrYy
RY Ry rY ry
x
RrYy
RY Ry rY ry
All possible gamete combinations
51
Dihybrid Cross
RY
Ry
rY
ry
RY
Ry
rY
ry
52
Dihybrid Cross
RY
RY RRYY
Ry RRYy
rY RrYY
ry
RrYy
Ry
rY
ry
RRYy
RrYY
RrYy
RRyy
RrYy
Rryy
RrYy
rrYY
rrYy
Rryy
rrYy
rryy
Round/Yellow:
Round/green:
9
3
wrinkled/Yellow: 3
wrinkled/green:
1
9:3:3:1 phenotypic
ratio
53
Dihybrid Cross
Round/Yellow: 9
Round/green:
3
wrinkled/Yellow: 3
wrinkled/green: 1
9:3:3:1
54
Test Cross
A mating between an individual of unknown
genotype and a homozygous recessive
individual.
Example: bbC__ x bbcc
BB = brown eyes
Bb = brown eyes
bb = blue eyes
CC = curly hair
Cc = curly hair
cc = straight hair
bC
b___
bc
55
Test Cross
Possible results:
bc
bC
b___
C
bbCc
bbCc
or
bc
bC
b___
c
bbCc
bbcc
56
Summary of Mendel’s laws
LAW
DOMINANCE
SEGREGATION
INDEPENDENT
ASSORTMENT
PARENT
CROSS
OFFSPRING
TT x tt
tall x short
100% Tt
tall
Tt x Tt
tall x tall
75% tall
25% short
RrGg x RrGg
round & green
x
round & green
9/16 round seeds & green
pods
3/16 round seeds & yellow
pods
3/16 wrinkled seeds & green
pods
1/16 wrinkled seeds & yellow
pods
57
Incomplete Dominance
and
Codominance (Exception to
Mendel’s Law)
58
Incomplete Dominance
F1 hybrids have an appearance somewhat
in between the phenotypes of the two
parental varieties.
Example: snapdragons (flower)
red (RR) x white (rr)
r
r
RR = red flower
rr = white flower
R
R
59
Incomplete Dominance
r
r
R Rr
Rr
R Rr
Rr
produces the
F1 generation
All Rr = pink
(heterozygous pink)
60
Incomplete Dominance
61
Codominance
Two alleles are expressed (multiple
alleles) in heterozygous individuals.
Example: blood type
1.
2.
3.
4.
type
type
type
type
A
B
AB
O
=
=
=
=
IAIA or IAi
IBIB or IBi
IAIB
ii
62
Codominance Problem
Example: homozygous male Type B (IBIB)
x
heterozygous female Type A (IAi)
IA
i
IB
IAIB
IBi
IB
IAIB
IBi
1/2 = IAIB
1/2 = IBi
63
Another Codominance Problem
• Example: male Type O (ii)
x
female type AB (IAIB)
IA
IB
i
IAi
IBi
i
IAi
IBi
1/2 = IAi
1/2 = IBi
64
Codominance
Question:
If a boy has a blood type O and
his sister has blood type
AB,
what are the genotypes
and
phenotypes of their
parents?
boy - type O (ii)
AB (IAIB)
X
girl - type
65
Codominance
Answer:
IA
IB
i
i
IAIB
ii
Parents:
genotypes = IAi and IBi
phenotypes = A and B
66
Genetic Practice
Problems
67
Breed the P1 generation
tall (TT) x dwarf (tt) pea plants
t
t
T
T
68
Solution:
tall (TT) vs. dwarf (tt) pea plants
t
t
T
Tt
Tt
produces the
F1 generation
T
Tt
Tt
All Tt = tall
(heterozygous tall)
69
Breed the F1 generation
tall (Tt) vs. tall (Tt) pea plants
T
t
T
t
70
Solution:
tall (Tt) x tall (Tt) pea plants
T
t
T
TT
Tt
t
Tt
tt
produces the
F2 generation
1/4 (25%) = TT
1/2 (50%) = Tt
1/4 (25%) = tt
1:2:1 genotype
3:1 phenotype
71
More Exceptions
To Mendelian Genetics
72
Sex-linked Traits
Traits (genes) located on the sex
chromosomes
Sex chromosomes are X and Y
XX genotype for females
XY genotype for males
Many sex-linked traits carried on
X chromosome
73
•
Sex Linked Traits
The genes for these traits are on the X
chromosome, because boys only receive one
X chromosome they are more likely to
inherit disorders passed to them from
their mother who would be a carrier.
•
Hemophilia and Colorblindness are sex
linked traits, the punnet square below
shows how a woman who is a carrier passes
the trait to her son, but not her daughters.
74
75
Sex-linked Traits
Example: Eye color in fruit flies
Sex Chromosomes
fruit fly
eye color
XX chromosome - female
Xy chromosome - male
76
Sex-linked Trait Problem
Example: Eye color in fruit flies
(red-eyed male) x (white-eyed female)
XRY
x
XrXr
Remember: the Y chromosome in males
does not carry traits.
Xr
Xr
RR = red eyed
Rr = red eyed
R
X
rr = white eyed
XY = male
Y
XX = female
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Sex-linked Trait Solution:
Xr
XR
XR
Xr
Y
Xr Y
Xr
XR
Xr
Xr Y
50% red eyed
female
50% white eyed
male
78
Female Carriers
79
Multiple Allele Traits
Traits that are
controlled by more
than two alleles.
Blood type in
humans is
controlled by
three alleles: A, B,
and O
Phenotype
Genotype
A
AA or AO
B
BB or BO
AB
AB only
O
OO only
80
Examples of Blood Type Crosses
81
•
Blood Transfusions
Blood can only be transferred to a body
of a person who's immune system will
"recognize" the blood.
•
••
A and B are antigens on the blood that
will be recognized.
If the antigen is unfamiliar to the body,
your body will attack and destroy the
transfused blood as if it were a hostile
invader (which can cause death).
82
•
•
•
AB is the universal acceptor.
A person with AB blood has both the A
and B antigens already in the body.
A and B blood can be transfused to the
person (as well as O) and the body will
recognize it and not attack.
83
•
•
•
O is like a blank, it has no antigens.
O is called the universal donor.
A person can receive a transfusion from
O blood without having an immune response
84
•
•
Polygenic Traits
Traits controlled by many genes: hair
color, height weight, intelligence
While one gene may make only one
protein, the effects of those proteins
usually interact (for example widow's
peak may be masked by expression of
the baldness gene).
85
Polygenic Traits
Novel phenotypes often result from the
interactions of two genes, as in the case of
the comb in chickens.
The single comb is produced only by the
rrpp genotype.
Rose comb (b) results from R_pp. (_
can be either R or r).
Pea comb (c) results from rrP_.
Walnut comb, a novel phenotype, is
produced when the genotype has at
least one dominant of each gene (R_P_).
–
–
––
86
Chicken Combs
87
Sex Influenced Traits
Traits are influenced by
the environment. Pattern
baldness affects men
because testosterone
activates the gene.
88
Environmentally Influenced
Traits
Siamese cats have dark
ears and feet due to the
temperature at birth.
Height in humans is
influenced by the
environment (diet).
•
•
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