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Mendelian Patterns of

Inheritance

Chapter 11
Genetics Vocabulary Practice
QOD:

c 1. Heredity a. The alleles of a particular gene are


i 2. Genotype different
e 3. Phenotype b. Not expressed when the dominant
d 4. Dominant form of the trait is present
b 5. Recessive c. Passing of trait from parents to
h 6. Alleles offspring
f 7. Homozygous d. The expressed form of a trait (cover up
(Pure) other forms)
a 8. Heterozygous e. Physical appearance of a trait
(Hybrid) f. When the two alleles of a particular
g 9. Genetics gene are the same
g. Branch of a biology that studies
heredity
h. Different versions of a gene
i. Set of alleles that an individual has
Sexual Reproduction and Genetics
Ch 11
Genetics: the study of heredity

Heredity the passing of traits to the


:

next generation. (from parent to child)

§ Trait: a physical feature (blue eyes)


Dominant trait: a trait that always shows,
can cover the other allele.
- represented by a Capital letter
EX: Brown eye: B
Recessive trait: a trait that only shows of
both alleles are present.
- represented by lower case letter
EX: blue eye: b
Codominant: both alleles are expressed
(shown) .

EX: Bb: Brown (B) and Blue (b) eyes are


both expressed
Sexual Reproduction and Genetics

§ Homozygous:
Homozygous: two of the same alleles
for a particular trait
§ ex: BB or bb also called pure
§ Heterozygous
Heterozygous: two different alleles for
a particular trait
§ Ex: Bb also called hybrid

Gregor Mendel: the father of genetics,


studies the traits of pea plants
11.1 Gregor Mendel
“Father of Genetics”
• Developed the fundamental laws of
heredity
• He studied science and mathematics
-chose to study genetics in garden peas (Pisum
sativum)as as they are easily grown and their
pollination is easily controlled. He controlled
pollination by manually moving pollen between
plants Developed True-breeding plants by self-
pollination Funfact: Mendel originally
wanted to breed mice, but
wasn't allowed to because it
was considered scandalous

http://science.howstuffworks.com/life/29784-100-greatest-
discoveries-genetics-and-gregor-mendal-video.htm
Mendel examined varieties of peas for heritable characters
and traits for his study. (stem length, pod shape, seed shape,
seed color..etc) Developed hybrid plants by crossbreeding two plants of differing characteristics

Tall v Short
Sexual Reproduction and Genetics

Mendel

P generation F1 F2
parents offspring 1 offspring 2
kids grandkids
11.2 Mendel's Law of Segregation
(MONOHYBRID CROSS)
• A monohybrid cross
involves one (mono)
character and different
(hybrid) traits.
• 
The F1 seeds were all purple;
the white flower trait failed to
appear at all.

Because the purple flower trait completely masks


the white flower trait when true-breeding plants are
crossed, the purple flower trait is called dominant,
and the white flower trait is called recessive.
Creating the F2
generation

*Cross the F1 generation


together to create F2

*Ratio is always 3:1

Mendel proposed that


the units responsible for
inheritance were discrete
particles - particulate
theory of inheritance
In 1865, Mendel published his
findings in a paper
called
Experiments on Plant
Hybridization, which was
mostly ignored at the time due
to a number of reasons. First,
Mendel was not well known in
scientific community. Second,
his theory ran against the
popular model of blended
inheritance.
As Viewed by Modern Genetics
• During production of gametes, only one of the pair
members for a given parent passes to the gamete. (LAW
OF SEGREGATION)
• 
Mendel's units of inheritance are now called genes.
• 
Different forms of a gene are called alleles.
• 
Each allele is given a symbol:
Parental Cross
PP x pp
purple x white
Mendel’s Three Laws

1. Dominance & Recessiveness

2. Segregation: the two alleles for a trait separate (or


segregate) during the formation of gametes

3. Independent Assortment: during gamete formation,


alleles pair independently, meaning a particular allele
for one character can be paired with either allele of
another character
•  Two copies of same allele = homozygous. Homo means "the
same"

• Therefore both PP and pp are considered homozygous, just


one is purple and the other is white.

• Some purple-flowered plants could be Pp. Individuals that


are purple, but had a white parent, are heterozygous: Pp.
Hetero means "different".

The F1 cross

Pp x Pp
purple x purple
Review Terms
F1 vs F2

True Breeding vs Hybrid

Self Pollination vs Cross Pollination

Homozygous vs Heterozygous

Particulate Theory vs Blending Theory

Segregation
The physical appearance of an organism is its phenotype.
Purple-flowered would be a phenotype.

The actual composition of the organism's alleles for a gene is


its genotype: Pp is a genotype.

GENOTYPE PHENOTYPE
Organisms have many
different genes some
Pp purple flowers have thousands, and
rr wrinkled seeds complex organisms
have 10 times that
number.
TT tall
tt short
BY CONVENTION:

The dominant trait is given a capitol letter, the lowercase of that


same letter is the recessive trait. DO NOT MIX LETTERS. Pick
one and stick to it.
Also, some letters are better than others. Capital S looks a lot
like a lowercase (s). Pick a different letter...
Okay Better (use H for hair)
Short hair = SS HH
Short hair = Ss Hh
Long hair = ss hh
Steps to solving genetics problems
1.  Key
2.  Parents cross
3.  Punnett Square
4.  Genotype and ratio
5.  Phenotype and ratio
Punnett Square: to predict outcome of offspring
Steps to solving genetics
Cross heterozygous green pea problems
1.  Key
(Gg) with heterozygous green pea 2.  Parents cross
3.  Punnett Square
plant (Gg). Yellow is recessive. 4.  Genotype and ratio
5.  Phenotype and ratio

Key: GG: Gg: gg


P = Gg x Gg green yellow
G g
Genotype: ¼ GG; 2/4 Gg; ¼ gg
G GG Gg
Genotype ratio: 1:2:1
g Gg gg
Phenotype: ¾ green; ¼ yellow
F1 Phenotype ratio: 3:1
In dragons...

Wings are a dominant


trait, but some dragons
are born wingless.

1. If a wingless dragon is
crossed with one that is
heterozygous, how many
of its offspring will also be
wingless?

2. What are the chances that


two heterozygous dragons
have a whelp that is wingless?
If a wingless dragon is crossed with one that
is heterozygous, how many of its offspring will
also be wingless?
Key: FF: Ff: ff
P = ff x Ff wings wingless
f f
Genotype: 2/4= ½ Ff; ½ ff
F Ff Ff
Genotype ratio: 1:1
f ff ff
Phenotype: ½ wing; ½ wingless
F1 Phenotype ratio: 1:1
What is a test cross? I can help you!
Let's have
Help, help! I don't know offspring!
what my genotype is!!

Am I Ff or FF?

Key:
F= winged
f=wingless
Practice with Punnett Squares
1. A round seeded plant (RR) is crossed with a wrinkle seeded
plant (rr). What are the phenotypes of the offspring?

2. Two heterozygous purple flowered pea plants are crossed.


What are the phenotypes of their offspring and in what
proportion?

3. A plant with green seeds (yy) is crossed with a


heterozygous plant. What percentage of their offspring have
yellow seeds?
Why does the punnett square work?

It all goes back to meiosis.. each side represents a sperm or


egg. The boxes filled out simply give you the statistical chance
that a certain sperm will fertilize a certain egg.
Probability: The chance that an event will occur

- It is a prediction, and it could be wrong.


Mendel’s Laws of Probability
-  Can use probability and math to solve genetic problems.

Ex: If two parents are heterozygous for nostril flaring.

P= Ee X Ee

Chance of E =½
Chance of e = ½

1.  Chance of EE = ½ x ½ =¼
2.  Chance of Ee = ½ x ½ =¼
3.  Chance of eE = ½ x ½ =¼ Ee= ¼ + ¼ = ½
4.  Chance of ee = ½ x ½ =¼
If a wingless dragon is crossed with one that is
heterozygous, how many of its offspring will also be
wingless?

Key: FF: Ff: ff


P = ff x Ff wings wingless
½½ ½½
1

fF= 1 X ½ = ½

ff=1 x ½ = 1/2
Incomplete Dominance
In Make believe flowers…….
Incomplete Dominance
Key: RR = red
Rr = purple (BLENDING)
rr = blue

CoDominance
Key: RR = red
Rr = red and blue (both are expressed)
rr = blue

Chapter menu Resources

Copyright © by Holt, Rinehart and Winston. All rights reserved.


Incomplete
Dominance

Traits appear to
"blend" in offspring
RR x WW

RW (pink)

Show:

Pink x Red

Pink x Pink

White x White
Figure 11.14

This illustrates
another style of
"letters" to denote
genotypes

R1 and R2

Coloration in Rodents
Black x White = Gray

BB x WW = BW
Sickle Cell Trait in Humans
Genotypes & Phenotypes

Pleiotropic Effect: a single mutant gene affects two or


more seemingly unrelated traits
- Sickle cell shape, and resistant to malaria parasite
Prevalence of Malaria

In tropical Africa, where


malaria is common:
homozygous dominant
individuals die of malaria
homozygous recessive
individuals die of sickle cell
anemia
heterozygote carriers are
relatively free of both
reproductive advantage

Prevalence of
Sickle
Cell Anemia
Pleiotropic Effect: a single mutant gene affects
two or more seemingly unrelated traits
Wavy hair is an example of incomplete dominance
Codominance
ROAN COW -
What happens when you cross a white and a red cow?

Roan is codominant - both alleles R and W are expressed


What happens when two Roan Cows
are Crossed?
R r
R RR Rr
r Rr rr
In Make believe flowers…….
Incomplete Dominance
Key: RR = red
Rr = purple (BLENDING)
rr = blue

CoDominance
Key: RR = red
Rr = red and blue (both are expressed)
rr = blue
Ex: A brown bird crosses with a white
one and all the offspring produced are Key: BB= Brown
tan. If these offspring were crossed Bb = Tan
and produced 16 birds, how many
would be tan? bb = White

P = Bb x Bb
B b
Genotype: ¼ BB; ½ Bb; ¼ bb
B BB Bb Genotype ratio: 1:2:1
b Bb bb Phenotype: ¼ Brown ; ½ Tan ; ¼ White

Phenotype ratio: 1:2:1


F2
If these offspring produced 16 birds how many would be expected
to be tan? 8
Keep in mind: in most real organisms, it is not that simple. More
than one gene will code for a trait.
QOD: Mendel’s Properties
1. What does INDEPENDENT ASSORTMENT mean?
In your own words, describe what it means with
regard to Mendelian genetics.

2. Mendel would have never developed this law if


he'd chosen traits located on the same
chromosome. Why do you think that would have
altered his results?

3. What is the difference in complete dominance,


codominance, and incomplete dominance and
which did Mendel study? Why?
Dihybrid Cross
Mendel's Law of Independent Assortment –
Illustrated by the DIHYBRID cross

law describes the outcome of dihybrid (two


character) crosses, or hybrid crosses involving
additional characters.

A dihybrid is an individual that is a double


heterozygote (e.g., with the genotype RrYy - round
seed, yellow seed).

What are the gametes that can be produced by this


individual?
Dihybrid Cross: RrYy x RrYy
cross two traits at same time: remember independent assortment
1a. Key: In pigs,
T = curly tail B =brown coat
t = straight tail b = white coat
Complete dominance Complete dominance

P = TtBb x TtBb
G TB, Tb , tB, tb X TB, Tb, tB, tb Phenotype
Genotype:
1/16 TTBB 9/16 curly tail & brown coat
TB, Tb , tB, tb
2/16 TTBb

TB TTBB TTBb TtBB TtBb 2/16 TtBB 3/16 curly tail & white coat
4/16 TtBb
Tb TTBb TTbb TtBb Ttbb 1/16 TTbb 3/16 straight tail & brown coat
2/16 Ttbb
tB TtBB TtBb ttBB ttBb 1/16 straight tail & white coat
1/16 ttBB
tb TtBb Ttbb ttBb ttbb 2/16 ttBb
1/16 ttbb

Pheno ratio: 9 : 3 : 3 : 1
1a. Continued….

What percentage of the offspring will be purebred


dominant for both traits? 1/16 or 6%

What percentage of the offspring will be hybrid for


both traits? 4/16 or 25%
Genotype: Phenotype
1/16 TTBB

Key: In pigs, 2/16 TTBb 9/16 curly & brown


T = curly tail 2/16 TtBB
B =brown coat
4/16 TtBb
t = straight tail 1/16 TTbb 3/16 curly & white
b = white coat
2/16 Ttbb
1/16 ttBB 3/16 straight & brown
2/16 ttBb
1/16 ttbb 1/16 straight & white
All of these type of crosses will follow the same ratio

AaBb x AaBb both heterozygous for both traits

9 - (two dominant traits)

3 - (one dominant, one recessive)

3 - (one recessive, one dominant)

1 - (two recessive traits)


1b.
Key: In pigs,
T = curly tail B =brown coat
t = straight tail b = white coat
Complete dominance Complete dominance

P = TTbb x ttbb
G Tb X tb
Phenotype
Tb Genotype:
100% curly tail and white coat
100% Ttbb
tb Ttbb

Pheno ratio: 0 : 1 : 0 : 0
3.
Key: In Drosophila fruit flies
W = long wings H = hairless body
w = vestigial wings h = hairy body
Complete dominance Complete dominance

P = Wwhh x WWHh
G Wh, wh X WH, Wh

Genotype: Phenotype
Wh wh
1/4 WWHh 50% long wings and hairless body
WH WWHh WwHh 1/4WwHh 50% long wings and hairy body
Wh 1/4 WWhh
WWhh Wwhh 1/4 Wwhh

Pheno ratio: 1 : 1 : 0 : 0

What percentage of the offspring will have long wings and hairless bodies?

50%
2.
Key: In pea plants
L = long stems G =green pods
l = short stems g = yellow pods
Complete dominance Complete dominance

P = LLgg x llGG
G Lg X lG

Lg
Genotype: Phenotype:
lG LlGg 100% LlGg 100% long stems and green pods

Pheno ratio: 1 : 0 : 0 : 0
It may be faster to solve problems mathematically.
This one is NOT 9:3:3:1

HhBb x hhBb
How many off the offspring will be short haired and red
eyed?
Try another mathematical model..
Winged, Fire breathing dragon DdFf
x
Wingless, Fire breathing dragon ddFf

Consider the cross between a plant with round seeds, purple


flowers to one with wrinkled seeds and white flowers ...

RrPp x rrpp
Multiple Alleles
Multiple Alleles: more than two alleles in the population
ex: Blood Types
Blood Type
There are 3 alleles that code for what type of blood you
have. A, B, and O. A and B are Co-Dominant and O is
recessive.
Phenotype Genotype Blood Donor % of population
Type A IAIA, IAiO Donate to Type A/AB 42%

Type B IBIB, IBiO Donate to Type B/AB 10%

Type AB IA IB Universal recipient/Donate to AB 4%

Type O iOiO Universal Donor/ only receive O 44%


Practice #1
Cross: Type A (AA) father with a type 0 mother. What
are the possible blood types of the offspring?

P = AA x OO

A A
O AO AO
O AO AO Genotype: 4/4 AO
Phenotype: 4/4 Type A
Practice #3
Suppose two newborn babies were accidentally mixed up in a
hospital, something that rarely happens. In an effort to determine
the parents of each baby, the blood types of the parents and the
babies were determined.
Baby 1-type B Mrs. Davisson-type B Mrs. Morgan - type O
Baby 2-type O Mr. Davisson- type B Mr. Morgan - type AB

A B

O AO BO
Name Genotype
Mrs. D BO
BB, BO O AO BO
Mr. D BO BB, BO
Mrs. M OO OO 1.  Which baby belongs to Mr. &
Mrs. Davisson?
Mr. M AB AB Baby 2
Baby 1 BO BB, BO 2. Which baby belongs to Mr. and
Baby 2 Mrs. Morgan? Baby 1
OO OO
Chapter 9

blood type is located on chromosome #9


•  Type A, B, AB or O

RH factor is a separate gene that codes for


another protein. This is the positive or negative
part of the blood type, on chromosome #1.
Many Genes Have Multiple Alleles
• 
A population might have more than two alleles for a given gene.
• 
In Labrador retriever, coat color is determined by one gene with four
different alleles. Five different colors result from the combinations of these
alleles. (More on labradors later)

Eye color is also controlled by multiple alleles


The simulation is a bit simplified, but the idea is that MULTIPLE
ALLELES control a single trait (eye color)

It is likely that more than 2 alleles


control eye color, this is simplified just
made it simple to understand.
Polygenic Traits

• Individual heritable characters found to be controlled by groups of


several genes, called polygenes.
• Each allele intensifies or diminishes the phenotype.
• Variation is continuous or quantitative (adding up) - also called
quantitative inheritance
• Seed Color in wheat - aabbcc, Aabbcc, AaBbcc, AaBbCc, AABbCc,
AABBCC (light, intermediate colors, dark)
• In humans - hair color, height, skin color
Pg 197

Polygenic Inheritance
AABBCC x aabbcc (P)

AaBbCc x AaBbCc (F1)

Seven Possible Phenotypes in the F2

The more “dominant” alleles for dark pigmentation (caused by melanin), the darker the skin
Figure 11.16
Example polygenetic trait question:

In a cross AaBbCc AaBbCc, what is the


probability of producing the genotype
AABBCC?
a. ¼
b.1/8
c.1/16
d.1/32
e.1/64
ANSWER:
E
Environment and Phenotype
Temperature, water, food sources can have an affect on how a gene is
expressed = “multifactoral”

Rabbits have a gene that codes for darker


pigments - this gene is more active at low
temperatures. Parts of the body that are
colder will develop the darker pigmentation -
ears and feet
• SIAMESE CATS
Multiple Alleles control the combs of
chickens. Assignment:

Multiple Alleles in
Chickens

LEGHORN
CHICKEN –
SINGLE COMB
BUTTERCUP CHICKEN - BUTTERCUP COMB
Buckeye Chicken – Pea Comb
Wyandotte Chicken - Rose Comb
Lethal Genes (Not in book, added)

• Some genes are lethal when both


alleles are present. Lethality can
occur before or after birth
• 
Huntington's disease in humans is
caused by a lethal allele, death
occurs later in life
• 
Other examples: Mouse coat color
(yellow), Creeper legs in chickens,
Manx Cats (no tails)

An example is the "creeper" allele in


chickens, which causes the legs to be
short and stunted.

Manx cat
X- linked traits
X-linkedComplex Inheritance
traits: traits and Human Heredity
on the X chromosome

•  Colorblindness
•  Hemophilia
•  Muscular Dystrophy

More common in males


Colorblindness
sex-linked recessive condition in which
people can’t see certain colors
don’t make some of the pigments in the eye
that are necessary for color vision.
The most common form is red-green colorblindness
Normal color vision : 29
Red green color blind : a bunch of spots!
Normal color vision : 56
Red green color blind : 56
Normal color vision : 8
Red green color blind : spots
Hemophilia: condition that impairs the blood’s
ability to clot.

Hemophilia is a recessive sex-linked trait.

Also known as bleeders


disease
Hemophilia: Royal Disease
Muscular Dystrophy (MD): disease that results in
progressive wasting away of skeletal muscle. 

Caused by a defective protein known as
dystrophin
Ex: Colorblindness
Key:
XX = female normal vision XY = male normal
XXe = female carrier (normal vision
vision) XeY = male colorblind
XeXe = female colorblind

Cross carrier female


with normal male
P = XY x X Xe
X Y Genotype Phenotype
X XX XY 1/4XX: female normal vision
1/4 XXe : female carrier
Xe XXe XeY 1/4 XY: male normal vision
¼ XeY: male color blind
What % of their boys will be expected to be colorblind?
50%
Hemophilia
Key:
XX = normal female XY = male normal
XXh = female carrier XhY = male hemphiliac
XhXh = female hemophiliac

MD
Key:
XX = normal female XY = male normal
XXm = female carrier XmY = male with MD
XmXm = female with MD
Carrier

1. XY male normal 7. XeY male colorblind


2, XXe female carrier 8. XXe female carrier
3. XY male normal 9. XX or XXe
4. XXe female carrier 10. XeY male colorblind
5. XXe female carrier 11. XY male normal
6, XY male normal 12. XeXe female colorblind
Complex Inheritance and Human Heredity
Pedigrees:
A diagram that traces the inheritance of
a particular trait through several
generations
Human Disorders
Pg 192

Autosomal Recessive vs Autosomal Dominance

Aa Aa Aa Aa

aa aa
Figure 11.10
Figure 11.11
Hereditary Genetic Disorders
Name of Type (autosomal, Description/ Type of people
Disorder sex linked, Symptoms group/ treatment /
dominant, other
recessive)
Tay Sacks

Cystic Fibrosis

PKU

Sickle Cell
Disease
Neurofibromatosis

Huntington's
Disease

Achondroplasia
Tay Sachs
Autosomal recessive
-progressive deterioration of nerve cells and of mental and
physical abilities

Young children begin showing signs of slowed development


Severe impairment and death
strikes 1 in 3600 births
100 times greater than incidence
among non-Jews
non-functional enzyme fails to
breakdown lipids in brain cells
fats collect in cells destroying their function
symptoms begin few months
after birth
seizures, blindness &
degeneration of muscle &
mental performance
child usually dies before 5yo
Cystic Fibrosis

autosomal recessive

-More common in
Caucasians

-Mucus in
respiratory tract,
difficulty breathing
extreme salty sweat
-Mucus may cause
secondary infections
http://www.redorbit.com/news/video/health_2/1113011363/miracle-drug-for-cystic-fibrosis-11222013/
Chloride channel
Effect on Lungs transports salt through
protein channel out of cell
normal lungs
airway Osmosis: H2O follows Cl–
Cl–
Cl– channel
H 2O
cells lining lungs

cystic fibrosis

Cl–
H 2O bacteria & mucus build
up
thickened mucus
hard to secrete

mucus secreting glands


Phenylketonuria (PKU)

• Lack enzyme for normal


metabolism
• Phenylalanine builds up and
causes brain damage
• Newborns are routinely
tested
• Changes in diet lead to autosomal recessive
normal life

Phenylalanine Hydroxylase is
the enzyme needed, absent in
those with PKU

http://www.youtube.com/watch?
v=XKSoMi4U-1k
http://www.youtube.com/watch?
v=w3L2SPj7alQ
Sickle Cell Disease
• More common in Africans
(African-Americans)
• Causes blood to be sickle
shaped
• Affects oxygen flow to
organs, causing
weakness, pain, anemia,
etc
• 
Heterozygotes are
resistant to malaria

AA = normal
Aa = sickle cell trait
aa = sickle cell disease
Neurofibromatosis
-Autosomal dominate
-carry high risk of tumor
formation
-Tumors form under skin
and can cause skeletal
deformities, blindness

"The Elephant Man"


Several years ago, research teams located the exact
position of the NF1 gene on chromosome 17. The
product of the NF1 gene is a large and complex protein
called neurofibromin, which is primarily active in nervous
cells as a regulator of cell division. Intensive efforts have
let to the identification of the NF2 gene on chromosome
22. The NF2 gene product is a tumor-suppressor protein
called merlin.

http://www.bcnf.bc.ca/learn/about-the-charity/
Huntington's Disease

HH = Huntington's
Hh = Huntingtons
hh = normal

Symptoms appear later in


life, often starting with
poor muscle control

Autosomal Dominant

neurodegenerative genetic
disorder that affects muscle
coordination and leads to
cognitive decline
There are different types of dwarfism.
Achondroplasia is caused by a dominant allele.

Meet Kenadie
http://www.youtube.com/watch?
feature=player_embedded&v=_QBy8DFaLR4
Two dwarfs can have a
Primordial
normal child. Dd x Dd
Dwarfism
Genes and crossing over: the higher the crossing
over frequency, the farther apart the genes
The following crossover A and B → 35%
frequencies were noted via B and C → 15%
experimentation for a set of five A and C → 20%
genes on a single chromosome: A and D → 10%
D and B → 25%
A and E → 5%
B and E → 40%
Pick the answer that most likely
represents the relative positions
of the five genes.
29.
In a cross AaBbCc AaBbCc, what is the probability of
producing the genotype AABBCC?
a. ¼
b.1/8
c.1/16
d.1/32
e.1/64

ANSWER:
E
Goals

1.  Finish Pedigree worksheet


staple into QOD
2.  Grid in questions in Genetics FRQ packet
can check answers with yellow answer key
3.  Finish lab(s)

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