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Honors Biology,

Period 5
Chapter 9 Notes

Patterns of Inheritance

Section 9.1: The Science of Genetics Has Ancient Roots

Hippocrates – proposed theory called Pangensis.


**key – acquired traits are inherited

Aristotle – proposed that we inherit the potential to produce features

19th Century Biologists – Uniformity accepted the Blending Theory of inheritance.


**Traits from both parents “mix” and become inseparable.

Section 9.2: Experimental Genetics Began in an Abbey Garden

Gregor Mendel – ‘The Father of Genetics’


- An Augustinian monk
- Lived and worked in an Abbey in Brunn, Austria
- Did all of his research on pea plants
- Published research paper (in 1866) outlining the mechanism of inheritance

Advantages of Pea Plants


- Mendel was very familiar with pea plants from rural upbringing
- They are very easy to grow
- They come in many easily distinguishable varieties
- It is easy to strictly control their mating

About Pea Plants


- They contain male (stamen) and female (carpel)
*Figure 9.2B
- They tend to self-fertilize in nature
- Mendel could promote cross-fertilization if desired
*Figure 9.2C

Mendel’s Success was based on three key factors


1. His experimental approach (application of mathematics)
2. Choice of organism
3. Limited study to dichotomous traits

Key Terms Part I

1. Dichotomous Trait – trait with only 2 distinct alternative forms


2. Self-fertilize – organism’s sperm fertilizes same organism’s egg
3. Cross-fertilize – one organism’s sperm fertilizes a second organism’s egg
4. True-breeding (pure-breeding) – organisms for which self-fertilization produces
offspring identical to the parent
5. Hybrid – offspring of two varieties
6. Hybridization (cross) – mating between parents of different verieties
7. Filial – Latin term meaning ‘son’
8. Phenotype – physical appearance

Section 9.3: Mendel’s Law of Segregation Describes the Inheritance of a Single Trait

- Figure 9.2D - The 7 pea plant characteristics studied by Mendel


- Figure 9.3A – Mendel’s pea plant experiment

Mendel’s Observations Resulted in 4 Hypothesis:

1. There are alternative forms of genes that account for variations in inherited
characteristics. These versions of a gene are called alleles.

2. For each characteristic, an organism inherits 2 alleles, one from the mother
and one from the father. These alleles may be the same or different.
o homozygous – when both alleles for a gene are the same
o heterozygous – when the two alleles for a gene are different
*pure-breeding = homozygous (lol, hot potato)

3. If the two alleles are different, than one determines the organism’s phenotype
(appearance) and the other has no noticeable effect on the organism’s
appearance.
o Dominant – describes the allele that is expressed
o Recessive – describes the allele this is not expressed

4. The Law of Segregation –


A gamete carries only one allele for each inherited trait because allele pairs
separate (segregate) during the production of gametes (meiosis).

During what meiotic stage does this happen? – Anaphase I

Figure 9.3B – Explanation of Mendel’s observations

Using a Punnet Square

- Punnet Square – tool used to calculate genotypes and phenotypes of potential


offspring
Dihybrid Cross

- A cross that involves two different traits.

Example #1:

A pea plant that is heterozygous for flower color and heterozygous for flower height is
allowed to self-fertilize.

A. What is the expected phenotypic ratio of the offspring?


B. What is the probability that the offspring will be pure-breeding for both purple
flowers and dwarf height?

Alleles:

P – Purple flower color


p – White flower color

T – tall plants
t – dwarf plants

Genotypes Possible Gametes

Male – P p T t PT Pt pT pt

Female – P p T t PT Pt pT pt

Punnett Square

PT Pt pT pt

PPTT PPTt PpTT PpTt

PPTt PPtt PpTt Pptt

PpTT PpTt ppTT ppTt

PpTt Pptt ppTt pptt

PT

Pt

pT
pt

# Tall Purple: 9/16


# Tall White: 3/16
# Dwarf Purple: 3/16
# Dwarf White: 1/16

Phenotypic ratio: 9 tall purple : 3 tall white : 3 dwarf purple : 1 dwarf white

Answers:
A. Phenotypic ratio: 9 tall purple : 3 tall white : 3 dwarf purple : 1 dwarf white
B. 1/16

Section 9.6: Using A Test Cross to Determine an Unknown Genotype

Test cross – mating between an individual of unknown genotype and an individual that is
homozygous recessive

- When using a test cross, you have to observe the offspring to determine the
unknown parental genotype.

Example: In Labrador Retrievers, black coat color is dominant to chocolate coat


color. You adopt a black lab from Animal Friends.
A. What is the genotype of this lab?
B. Perform a test cross to determine the unknown genotype.

B – black coat color


b – chocolate coat color

Genotypes Possible Gametes


Male: B _ B?
Female: bb bb

Punnett Square
Option #1 Option #2
b b b b

B Bb Bb B Bb Bb

Bb Bb bb bb
B b

100% black 1 : 1 ; 50% black, 50% chocolate


Result – when mated, the labs produced a litter of puppies: 5 black, 4 chocolate
- Genotype of black lab: Bb

Section 9.7: Mendel’s Laws Reflect the Rules of Probability

Rule of multiplication – the probability of compound events is the product of the separate
Probabilities of the independent events
*Also referred to as “AND” problems
Example: A pea plant is heterozygous for 3 traits: A, B, and C. This plant is
allowed to self-fertilize.

Genotypes of parents:
Male: AaBbCc
Female:AaBbCc

1. What is the chance that the offspring would have the genotype AABBCC?
- 1/64
2. What is the chance that the offspring would have the genotype AaBBcc?
- 1/32

Rule of addition – probability that an event can occur in two or more separate occasions
is the sum.
*Also referred to as “OR” problems

Example: A pea plant is heterozygous for two traits: A and B. This plant is
allowed to self-fertilize.

Genotypes:
Male: AaBb
Female:AaBb

1. What is the probability that the offspring will have a genotype of AABB?
- ¼ + ¼ = ½ or 50%

Section 9.8: Pedigrees

Pedigree – a family tree

(unshaded circle) – female


(unshaded square) – male

(shaded circle showing defect/disease) – female


(shaded square showing defect/disease) – male

carrier – an individual that is heterozygous for a recessive genetic disorder. (half-shaded


circle or square). They appear normal.

Example – in humans, the hearing gene has two alleles. There is a dominant allele
produces normal hearing while the recessive allele deafness.

D – normal hearing
d – deafness

**See Figure 9.8B

Section 9.9: Many Inherited Disorders Are Controlled By A Single Gene

Testing Your Knowledge

What is the difference between an infectious disease and a genetic disease?


- infectious are caused by living organisms, genetic are inherited

Inherited Disorders

- Disorders arising from a defective allele.


- Inherited disorders can be either dominant or recessive.

Recessive Disorders

1. Albinism
2. Cystic Fibrosis
3. Sickle Cell Anemia
4. Tay-Sach’s Disease

About Cystic Fibrosis:


- Most common lethal genetic disease in the United States.
- Affects different ethnic groups unequally:
1/17000 African
1/90000 Asian
1/2500 European
*about 1/25 Caucasians carry the allele
Why does the frequency of the disease vary between cultures?
- Intrabreeding

About Sickle Cell Anemia


- What is it?
- Who is at risk?
- Carriers are said to have sickle cell trait
- Evolutionary connection – the heterozygous advantage
Dominant Disorders
1. Achondroplasia (the homozygous condition is fatal to the embryo)
2. Alzheimer’s Disease
3. Huntington’s Disease
4. Hypercholesterolemia
5. Polydactylism
6. Syndactylism (Christ and Da Vinci)
7. Ectrodactylism (lobster boy)

Section 9.10 – 9.11


*read in book

Section 9.12: Incomplete Dominance

Variations and Exceptions to Mendel’s Laws

Exception #1

Incomplete Dominance – A situation where neither allele is dominant. The result is the
offspring show phenotypes in between the parental varieties.
Example: A pure-breeding RED snapdragon is crossed with a pure-
breeding WHITE snapdragon

R – red flower color


r – white flower color

P Generation – RR x rr
F1 – 100% pink flower
F2 – What phenotype ratio do you expect?
Actual results: 11 RED : 20 PINK : 9 WHITE
Reduced: 1 RED : 2 PINK : 1 WHITE

Section 9.13: Multiple Alleles and Codominance

Exception #2

Multiple Alleles – situation where a single gene has more than two possible forms

Codominance – situation where more than one allele for a certain gene is dominant

Example:
Blood type in humans is controlled by a single gene.
This gene has three different alleles
Alleles A and allele B are codominant
Allele O is recessive

Writing alleles:
IA – the A allele
IB – the B allele
i – the O allele
Blood Phenotypes and Genotypes:
Phenotypes Genotypes
Blood type A IA IA or IAi
Blood type B IB IB or IBi
Blood type AB IA IB
Blood type O ii

Section 9.14: Pleiotropy

Exception #3

Pleiotropy – when a single gene influences more than one trait

Example: Sickle Cell Anemia


The sickle cell gene can cause:
A. Anemia
B. Heart failure
C. Brain damage
D. Spleen damage

Exception #4 - **NOT IN TEXTBOOK

Epistasis – when multiple genes influence the same trait

Section 9.15: Polygenic Inheritance

Exception #5

Polygenic Inheritance – the additive effects of two or more genes on a single trait

Examples:
1. human skin color
2. human height

Example of skin color:


**In humans, skin color is controlled by at least 3 different genes, but for
this sample problem, use only two different genes.
In humans, skin color is controlled by 2 different genes: A, B. Each allele
contributes a unit of darkness to skin color.

very light skin aabb


light skin Aabb or aaBb
medium skin AAbb or aaBB or AaBb
dark skin AABb or AaBB
very dark skin AABB

If a man with light skin marries a woman with very light skin, what is the
expected phenotypic ratio of their offspring?

Very light: aabb ½ × 4/4 = ½ very light skin, ½ light skin


Light: Aabb

a a b b
Aa Aa Bb Bb
A B
X

A aa aa b bb bb

Sections 9.16 – 9.18


*read in book

Section 9.19: Linked Genes

Exception #6

Linked Genes – genes that are located close together on the same chromosome

Example: In sweet peas, Purple flower color (P) is dominant to red (p) flower
color and long seeds (L) are dominant to round seeds (l).
If two heterozygous plants are crossed, what phenotypic ratio would you expect in
the offspring?

Expected Phenotypic ratio:


9/16 Purple Long : 3/16 Purple round : 3/16 red Long : 1/16 red round

Actual Phenotypic Ratio:


20 Purple Long : 7 red round
Ratio – 3 Purple Long : 1 red round

How do you explain these results?


- The gene for flower color and the gene for seed shape are on the
same chromosome. This means they DO NOT assort
independently during Meiosis.
*See figure 9.19

Recombination Frequency - percentage of recombinants ( = recombinants/total offspring)

Example: Drosophila melanogaster – common fruit fly

G – gray body L – long wings


g – black body l – vestigial wings

GgLl (male) x ggll (female)  test cross: one parent is pure-breeding


(homozygous)

If genes assort independently, what phenotypic ratio is expected?


- 1 gray long : 1 gray vestigial : 1 black long : 1 black vestigial

If linked:
GL gl

GL GGLL GgLl
3 Long Gray : 1 black vestigial
expected

GgLl ggll
Gl

Actual results: (See figure 9.19 C)


Using Recombination Frequency to Map Genes

Example:
G – Gray body P – Purple eyes L – Long wings
g – black body p – red eyes l – vestigial wings

GPL – linked on the same chromosome


gpl – linked on the same chromosome

The Recombination Frequency:


Gray body and red eyes – 17%
Purple eyes and vestigial wings – 31%
Gray body and vestigial wings – 14%

What is the sequence of genes on this chromosome?


31 map units

P G L

14 map
17 map units
units

Recombination frequency is given below for several gene pairs. Create a linkage map for
these genes, showing the map unit distance between loci.

j, k – 12% k, l – 6% j, m – 9% l, m – 15%

9 map units 12 map units

M J L K

6 map units
15 map units

21 map units

Section 9.22 – 9.24: Sex-Linked Genes

Exception #7

Sex-linked genes – genes that are found on either of the sex chromosomes rather than the
autosomes

Why/How does this change the inheritance pattern of these traits?

Chromosomal Make-up
Males – XY  males only have one X (hemizygous)
Females – XX  females do not have a Y

Examples of sex-linked gene disorders:


1. colorblindness (recessive)
2. Hemophilia (recessive)
3. Duchenne Muscular Dystrophy (recessive)
Example Problem:
Joe (normal vision) marries Layla (normal vision). They have a son, Chad, who is
colorblind.

What is the chance their next child will be colorblind?  ¼


If their next child is a boy, what is the chance he will be colorblind?  ½
What is the chance their next child will be a boy with normal vision?  ¼

Alleles – Genotypes:
B – normal vision Joe - XBY
b – colorblindness Layla – XBXb
Chad - XbY

XB Xb

XB XB XB XB Xb

B
YX Y XbY

Joe x Layla

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