Genetics

Chapter 1

Genetics

DNA is a thing -- a chemical that sticks to your fingers. Genes have a

physical nature, too; in fact, they’re made of long stretches of DNA. But
in some way genes are better viewed as conceptual, not material. A
gene is really information -- more like a story, with DNA as the language
the story is written in. DNA and genes combine to form larger
structures called chromosomes, DNA-rich volumes that house most of
the genes of living things. Chromosomes in turn reside in the cell
nucleus, a library with instructions that run our entire bodies

- Sam Kean “The Violinist’s Thumb”

Section 1
Mendel’s Experiments
LEARNING TARGETS
1. Trace the technological developments from Mendel to
current day advancements
2. Mendel’s discoveries formed the basis of genetics,
the science of heredity.
3. Cross-pollination produces hybrids.
4. After his first set of experiments, Mendel researched
two characteristics at a time. This led to his law of
independent assortment. This law states that the
factors controlling different characteristics are inherited
independently of each other.
What's so interesting about pea plants?
These purple-flowered plants are not just pretty to look at. Plants like these led to
a huge leap forward in biology. The plants are common garden pea plants, and
they were studied in the mid-1800s by an Austrian monk named Gregor Mendel.
With his careful experiments, Mendel uncovered the secrets of heredity, or how
parents pass characteristics to their offspring.
You may not care much about heredity in pea plants, but you probably care about
your own heredity. Mendel’s discoveries apply to you as well as to peas—and to all
other living things that reproduce sexually.
Mendel and His Pea Plants
People have long known that the characteristics of living things are similar in
parents and their offspring. Whether it’s the flower color in pea plants or nose
shape in people, it is obvious that offspring resemble their parents. However, it
wasn’t until the experiments of Gregor Mendel that scientists understood how
characteristics are inherited. Mendel’s discoveries formed the basis of genetics ,
the science of heredity. That’s why Mendel is often called the "father of genetics."
It’s not common for a single researcher to have such an important impact on
science. The importance of Mendel’s work was due to three things: a curious
2
mind, sound scientific methods, and good luck. You’ll see why Mendel to question the blending theory. He wondered if there was
when you read about Mendel’s experiments. a different underlying principle that could explain how
characteristics are inherited. He decided to experiment with pea
Gregor Mendel was born in 1822 and grew up on his parent’s
plants to find out. In fact, Mendel experimented with almost
farm in Austria. He did well in school and became a monk. He
30,000 pea plants over the next several years!
also went to the University of Vienna, where he studied science
and math. His professors encouraged him to learn science
Interactive 1.1 Animation
through experimentation and to use math to make sense of his in which Mendel explains
results. Mendel is best known for his experiments with the pea how he arrived at his
decision to study
plant Pisum sativum (see Figure below ). inheritance in pea plants -
doesn’t work on ipads.

Gregor Mendel. The Austrian monk Gregor Mendel

experimented with pea plants. He did all of his
research in the garden of the monastery where he
lived.

http://www.dnalc.org/view/16170-
Animation-3-Gene-s-don-t-
blend-.html .

Blending Theory of Inheritance

During Mendel’s time, the blending theory of inheritance was
popular. This is the theory that offspring have a blend, or mix, of
the characteristics of their parents. Mendel noticed plants in his
own garden that weren’t a blend of the parents. For example, a
tall plant and a short plant had offspring that were either tall or
short but not medium in height. Observations such as these led
Why Study Pea Plants?
Why did Mendel choose common, garden-variety pea plants for
his experiments? Pea plants are a good choice because they are
fast growing and easy to raise. They also have several visible
characteristics that may vary. These characteristics, which are
shown in figure on next page, include seed form and color, flower
3
color, pod form and color, placement of pods and flowers on
stems, and stem length. Each characteristic has two common Interactive 1.2 Interactive
animation of Mendel’s first
values. For example, seed form may be round or wrinkled, and set of experiments -
flower color may be white or purple (violet). doesn’t work on ipads

http://www2.edc.org/weblabs/
Mendel/mendel.html

Mendel investigated seven different characteristics in pea plants. In this

chart, cotyledons refer to the tiny leaves inside seeds. Axial pods are located This diagram shows

along the stems. Terminal pods are located at the ends of the stems. Mendel's first experiment
with pea plants. The F1
Mendel’s First Set of Experiments generation results from
cross-pollination of two
Mendel first experimented with just one characteristic of a pea parent (P) plants, and
plant at a time. He began with flower color. As shown in the next contained all purple
figure, Mendel cross-pollinated purple- and white-flowered parent flowers. The F2 generation

plants. The parent plants in the experiments are referred to as the results from self-

P (for parent) generation. pollination of F1 plants,

and contained 75% purple
flowers and 25% white
flowers.

4
F1 and F2 Generations controlled by two factors, which separate and go to different
gametes when an organism reproduces. These factors. one of
The offspring of the P generation are called the F1 (for filial, or
which dominates the other (Law of Dominance), separate and go
“offspring”) generation. As you can see in the previous Figure, all
to different gametes when a parent reproduces.
of the plants in the F1 generation had purple flowers. None of
them had white flowers. Mendel wondered what had happened to
the white-flower characteristic. He assumed some type of
inherited factor produces white flowers and some other inherited Mendel’s Second Set of Experiments

factor produces purple flowers. Did the white-flower factor just
disappear in the F1 generation? If so, then the offspring of the F1
generation—called the F2 generation —should all have purple
flowers like their parents.
To test this prediction, Mendel allowed the F1 generation plants
to self-pollinate. He was surprised by the results. Some of the F2
generation plants had white flowers. He studied hundreds of F2
generation plants, and for every three purple-flowered plants,
After observing the results of his first set of experiments, Mendel
wondered whether different characteristics are inherited together.
For example, are purple flowers and tall stems always inherited
together? Or do these two characteristics show up in different
combinations in offspring? To answer these questions, Mendel
next investigated two characteristics at a time. For example, he
crossed plants with yellow round seeds and plants with green
wrinkled seeds. The results of this cross, which is a dihybrid

there was an average of one white-flowered plant. cross, are shown in the next figure.

Law of Segregation

Mendel did the same experiment for all seven characteristics. In

each case, one value of the characteristic disappeared in the F1
plants and then showed up again in the F2 plants. And in each
case, 75 percent of F2 plants had one value of the characteristic
and 25 percent had the other value. Based on these observations,
Mendel formulated his laws of inheritance. This law is called the
Law of Segregation. This law states that each characteristic is

5
 F1 and F2 Generations

In this set of experiments, Mendel observed that plants in the F1

generation were all alike. All of them had yellow and round seeds
like one of the two parents. When the F1 generation plants self-
pollinated, however, their offspring—the F2 generation—showed
all possible combinations of the two characteristics. Some had
green round seeds, for example, and some had yellow wrinkled
seeds. These combinations of characteristics were not present in
the F1 or P generations.

Law of Independent Assortment

Mendel repeated this experiment with other combinations of

characteristics, such as flower color and stem length. Each time,
the results were the same as those in Figure above . The results
of Mendel’s second set of experiments led to an additional law.
This is the Law of Independent Assortment. It states that
factors controlling different characteristics are inherited
This chart represents Mendel's second set of experiments. It shows the
independently of each other.
outcome of a cross between plants that differ in seed color (yellow or green)
and seed form (shown here with a smooth round appearance or wrinkled
appearance). The letters R, r, Y, and y represent genes for the characteristics
Mendel was studying. Mendel didn’t know about genes, however. Genes
would not be discovered until several decades later. This experiment
demonstrates that in the F2 generation, 9/16 were round yellow seeds, 3/16
were wrinkled yellow seeds, 3/16 were round green seeds, and 1/16 were
wrinkled green seeds.

6
Review 1.1 Mendel’s experiments

Question 1 of 3
The law or theory that offspring have a mix of
the characteristics of their parents.

A. Blending Theory of Inheritance

B. Mendel’s Theory of Genetics

C. Law of Segregation

D. Law of Independent Assortment

Check Answer

7
 Section 2

Mendelian Genetics
L E A R N I N G TA R G E T S Do you look like your parents?

1. Mendel’s work was rediscovered in 1900. Soon You probably have some characteristics or traits in common with each of your par-
after that, genes and alleles were discovered.
This allowed Mendel’s laws to be stated in ents. Mendel's work provided the basis to understand the passing of traits from
terms of the inheritance of alleles. one generation to the next.
2. The gene for a characteristic may have
different versions. These different versions of
a gene are known as alleles.

3. The alleles an individual inherits make up the
individual’s genotype. The individual may be
homozygous (two of the same alleles) or
heterozygous (two different alleles).
4. When only one of two alleles is expressed, the
expressed allele is the dominant allele, and the
allele that isn’t expressed is the recessive
allele.
Mendel’s Laws and Genetics
You might think that Mendel's discoveries would have made a big impact on sci-
ence as soon as he made them. But you would be wrong. Why? Because Men-
del's work was largely ignored. Mendel was far ahead of his time and worked in a
remote monastery. He had no reputation among the scientific community and no
previously published work.

5. Probability is the chance that a certain event

will occur. For example, the probability of a
head turning up on any given coin toss is 50
percent.
6. A Punnett square allows the prediction of the
percentages of phenotypes in the offspring of a
cross from known genotypes.
7. From studying a pedigree, scientists can
determine if a trait is sex-linked or autosomal.
Mendel’s work, titled Experiments in Plant Hybridization, was published in 1866,
and sent to prominent libraries in several countries, as well as 133 natural science
associations. Mendel himself even sent carefully marked experiment kits to Karl
von Nageli, the leading botanist of the day. The result - it was almost completely
ignored. Von Nageli instead sent hawkweed seeds to Mendel, which he thought
was a better plant for studying heredity. Unfortunately hawkweed reproduces
asexually, resulting in genetically identical clones of the parent.

8
Charles Darwin published his landmark book on evolution in
1869, not long after Mendel had discovered his laws. Unfortu-
nately, Darwin knew nothing of Mendel's discoveries and didn’t
understand heredity. This made his arguments about evolution
less convincing to many people. This example demonstrates the
importance for scientists to communicate the results of their inves-
tigations.
Rediscovering Mendel’s Work
Mendel’s work was virtually unknown until 1900. In that year,
three different European scientists—named DeVries, Correns, and
Tschermak—independently arrived at Mendel’s laws. All three had
done experiments similar to Mendel’s. They came to the same
conclusions that he had drawn almost half a century earlier. Only
then was Mendel’s actual work rediscovered.
As scientists learned more about heredity - the passing of traits
from parents to offspring - over the next few decades, they were
able to describe Mendel’s ideas about inheritance in terms of
genes. In this way, the field of genetics was born.
Interactive 1.3 Mendel’s
Law of Independent
Assortment and Gamete
Diversity - works on ipads
http://www.sumanasinc.com/
webcontent/animations/content/
mendelindassort.html
Genetics of Inheritance
Today, we known that characteristics of organisms are controlled
by genes on chromosomes (figure on next page). The position of
a gene on a chromosome is called its locus. In sexually reproduc-
ing organisms, each individual has two copies of the same gene,
as there are two versions of the same chromosome ( homolo-
gous chromosomes ). One copy comes from each parent. The
gene for a characteristic may have different versions, but the dif-
ferent versions are always at the same locus. The different ver-
sions are called alleles . For example, in pea plants, there is a
purple-flower allele ( B ) and a white-flower allele ( b ). Different al-
leles account for much of the variation in the characteristics of or-
ganisms.
9
 Table below , an organism with two alleles of the same type ( BB
or bb ) is called a homozygote (purebred) . An organism with
two different alleles ( Bb ) is called a heterozygote (hybrid) . This
results in three possible genotypes.

The expression of an organism’s genotype produces its pheno-

Chromosome, Gene, Locus, and Allele. This diagram shows how the type. The phenotype refers to the organism’s characteristics,
concepts of chromosome, gene, locus, and allele are related. What is the such as purple or white flowers. As you can see from Table
different between a gene and a locus? Between a gene and an allele? above, different genotypes may produce the same phenotype.
For example, BB and Bb genotypes both produce plants with pur-
During meiosis, homologous chromosomes separate and go to
ple flowers. Why does this happen? In a Bb heterozygote, only
different gametes. Thus, the two alleles for each gene also go to
the B allele is expressed, so the b allele doesn’t influence the phe-
different gametes (Law of Segregation). At the same time, differ-
notype. In general, when only one of two alleles is expressed in
ent chromosomes assort independently (Law of Independent As-
the phenotype, the expressed allele is called the dominant allele.
sortment). As a result, alleles for different genes assort independ-
The allele that isn’t expressed is called the recessive allele (Law
ently as well. In these ways, alleles are shuffled and recombined
of Dominance)
in each parent’s gametes.

How Mendel Worked Backward to Get Ahead

Genotype and Phenotype
Mendel used hundreds or even thousands of pea plants in each
When gametes unite during fertilization, the resulting zygote inher-
experiment he did. Therefore, his results were very close to those
its two alleles for each gene. One allele comes from each parent.
you would expect based on the rules of probability. For example,
The alleles an individual inherits make up the individual’s geno-
in one of his first experiments with flower color, there were 929
type. The two alleles may be the same or different. As shown in
plants in the F2 generation. Of these, 705 (76 percent) had purple

10
flowers and 224 (24 percent) had white flowers. Thus, Mendel’s
results were very close to the 75 percent purple and 25 percent
white you would expect by the laws of probability for this type of
cross.
Of course, Mendel had only phenotypes to work with. He knew
nothing about genes and genotypes. Instead, he had to work
backward from phenotypes and their percents in offspring to un-
derstand inheritance. From the results of his first set of experi-
ments, Mendel realized that there must be two factors controlling
each of the characteristics he studied, with one of the factors be-
ing dominant to the other. He also realized that the two factors
separate and go to different gametes and later recombine in the
offspring. This is an example of Mendel’s good luck. All of the
characteristics he studied happened to be inherited in this way.
Mendel also was lucky when he did his second set of experi-
ments. He happened to pick characteristics that are inherited in-
dependently of one another. We now know that these characteris-
tics are controlled by genes on non-homologous chromosomes.
What if Mendel had studied characteristics controlled by genes
on homologous chromosomes? Would they be inherited to-
gether? If so, how do you think this would have affected Mendel’s
conclusions? Would he have been able to develop his second law
of inheritance?
Interactive 1.4 Animation
of Mendel explaining how
he came to understand
heredity - doesn’t work on
iPads
http://www.dnalc.org/view/16154-
Animation-2-Genes-Come-in-
Pairs.html
Probability
Assume you are a plant breeder trying to develop a new variety of
plant that is more useful to humans. You plan to cross-pollinate
an insect-resistant plant with a plant that grows rapidly. Your goal
is to produce a variety of plant that is both insect resistant and
fast growing. What percentage of the offspring would you expect
to have both characteristics? Mendel’s laws can be used to find
out. However, to understand how Mendel’s laws can be used in
this way, you first need to know about probability.
Probability is the likelihood, or chance, that a certain event will
occur. The easiest way to understand probability is with coin
tosses (see figure on next page). When you toss a coin, the
chance of a head turning up is 50 percent. This is because a coin
11
has only two sides, so there is an equal chance of a head or tail ample, if you tossed a coin 1000 times, you might get 510 heads
turning up on any given toss. and 490 tails.

Probability and Inheritance

The same rules of probability in coin tossing apply to the main

events that determine the genotypes of offspring. These events
are the formation of gametes during meiosis and the union of
gametes during fertilization.

Probability and Gamete Formation

How is gamete formation like tossing a coin? Consider Mendel’s

Tossing a Coin. Competitions often begin with the toss of a coin. Why is this purple-flowered pea plants again. Assume that a plant is heterozy-
a fair way to decide who goes first? If you choose heads, what is the chance gous for the flower-color allele, so it has the genotype Bb (see fig-
that the toss will go your way? ure on next page ). During meiosis, homologous chromosomes,
and the alleles they carry, segregate and go to different gametes.
Therefore, when the Bb pea plant forms gametes, the B and b al-
leles segregate and go to different gametes. As a result, half the
If you toss a coin twice, you might expect to get one head and
gametes produced by the Bb parent will have the B allele and half
one tail. But each time you toss the coin, the chance of a head is
will have the b allele. Based on the rules of probability, any given
still 50 percent. Therefore, it’s quite likely that you will get two or
gamete of this parent has a 50 percent chance of having the B al-
even several heads (or tails) in a row. What if you tossed a coin
lele and a 50 percent chance of having the b allele.
ten times? You would probably get more or less than the ex-
pected five heads. For example, you might get seven heads (70
percent) and three tails (30 percent). The more times you toss the
coin, however, the closer you will get to 50 percent heads. For ex-

12
 different combination of alleles than the parents (either BB or bb)?
To answer these questions, geneticists use a simple tool called a
Punnett square, which is the focus of the next concept.

Punnett Squares

A Punnett square is a chart that allows you to easily determine

the expected percentage of different genotypes in the offspring of
two parents. An example of a Punnett square for pea plants is
shown in Figure below. In this example, both parents are heterozy-
gous for flower color ( Bb ). The gametes produced by the male
parent are at the top of the chart, and the gametes produced by
the female parent are along the side. The different possible combi-
nations of alleles in their offspring are determined by filling in the
cells of the Punnett square with the correct letters (alleles).
Formation of gametes by meiosis. Paired alleles always separate and go to
different gametes during meiosis.
This Punnett square shows a cross
between two heterozygotes, Bb. Do
you know where each letter (allele)
Probability and Fertilization in all four cells comes from? Two
pea plants, both heterozygous for
Which of these gametes joins in fertilization with the gamete of an- flower color, are crossed. The
other parent plant? This is a matter of chance, like tossing a coin. offspring will show the dominant
Thus, we can assume that either type of gamete—one with the B purple coloration in a 3:1 ratio. Or,
allele or one with the b allele—has an equal chance of uniting with about 75% of the offspring will be
any of the gametes produced by the other parent. Now assume purple.
that the other parent is also Bb . If gametes of two Bb parents
unite, what is the chance of the offspring having one of each al-
lele like the parents ( Bb )? What is the chance of them having a

13
Predicting Offspring Genotypes with white flowers. Because the b allele is recessive, you know
that the white-flowered parent must have the genotype bb . The
In the cross shown in the figure on the previous page, you can purple-flowered parent, on the other hand, could have either the
see that one out of four offspring (25 percent) has the genotype BB or the Bb genotype. The Punnett square in Figure below
BB, one out of four (25 percent) has the genotype bb, and two out shows this cross. The question marks (?) in the chart could be ei-
of four (50 percent) have the genotype Bb. These percentages of ther B or b alleles.
genotypes are what you would expect in any cross between two
heterozygous parents. Of course, when just four offspring are pro-
duced, the actual percentages of genotypes may vary by chance
from the expected percentages. However, if you considered hun-
dreds of such crosses and thousands of offspring, you would get
very close to the expected results, just like tossing a coin.

Predicting Offspring Phenotypes

You can predict the percentages of phenotypes in the offspring of

this cross from their genotypes. B is dominant to b , so offspring
with either the BB or Bb genotype will have the purple-flower phe-
notype. Only offspring with the bb genotype will have the white-
flower phenotype. Therefore, in this cross, you would expect
three out of four (75 percent) of the offspring to have purple flow-
ers and one out of four (25 percent) to have white flowers. These
are the same percentages that Mendel got in his first experiment.
Determining Missing Genotypes
A Punnett square can also be used to determine a missing geno-
type based on the other genotypes involved in a cross. Suppose
you have a parent plant with purple flowers and a parent plant
Punnett Square: Cross Between White-Flowered and Purple-Flowered Pea
Plants. This Punnett square shows a cross between a white-flowered pea
plant and a purple-flowered pea plant. Can you fill in the missing alleles?
What do you need to know about the offspring to complete their genotypes?
Can you tell what the genotype of the purple-flowered parent is
from the information in the Punnett square? No; you also need to
know the genotypes of the offspring in row 2. What if you found
out that two of the four offspring have white flowers? Now you
know that the offspring in the second row must have the bb geno-
type. One of their b alleles obviously comes from the white-
flowered ( bb ) parent, because that’s the only allele this parent
has. The other b allele must come from the purple-flowered par-

14
ent. Therefore, the parent with purple flowers must have the geno-
type Bb .
Punnett Square for Two Characteristics: Dihybrid
When you consider more than one characteristic at a time, using
a Punnett square is more complicated. This is because many
more combinations of alleles are possible. For example, with two
genes each having two alleles, an individual has four alleles, and
these four alleles can occur in 16 different combinations. This is
illustrated for pea plants in Figure below . In this cross, known as
a dihybrid cross, both parents are heterozygous for pod color
(Gg) and pod form (Ff).
Test Cross
A test cross is a valuable tool in predicting the genotype of the
organism in question. The test cross method was developed by
the father of genetics, Mendel. The goal in a test cross is to
discover if the genotype is homozygous dominant (PP) or
heterozygous (Pp). Both genotypes produce the dominant
phenotype (characteristic) so it is impossible to tell just by
looking. This is where the test cross comes into play. A test cross
is simple and extremely helpful in discovering if a organism is true
breeding.
To perform a test cross, a homozygous recessive individual (pp)
must be crossed with the the individual with an unknown
genotype (PP or Pp). If the unknown (P?) dominant genotype
happens to be homozygous dominant (PP) than all of the
offspring produced will be Pp. If the unknown (P?) happens to be
Aa than the offspring will be half PP and half Pp. See figure on
next page.

Punnett Square for Two Characteristics: Dihybrid. This Punnett square

represents a cross between two pea plants that are heterozygous for two
characteristics. G represents the dominant allele for green pod color, and g
represents the recessive allele for yellow pod color. F represents the
dominant allele for full pod form, and f represents the recessive allele for
constricted pod form.
15
Summary Chart of the two paths test crossing can take using
the pea plant flower:
Explanation: A homozygous recessive genotype used is pp in
this test cross. The phenotype for pp is a white flower. The
dominant phenotype will be a purple flower (P-), but the
actual genotype is unknown until the cross is performed. The
two possible outcomes are shown.
What's a pedigree?
When you are talking about a pedigree dog, it means the dog is
purebred. Through selective breeding, the dog has all the traits of
that particular breed. When talking about genetics, however, a
pedigree is a chart that helps show family relationships.
Pedigree Analysis
A pedigree is a chart that shows the inheritance of a trait over
several generations. A pedigree is commonly created for families,
and it outlines the inheritance patterns of genetic disorders. Pic-
tured below is a pedigree displaying recessive inheritance of a dis-
order through three generations (Figure on next page). From study-
ing a pedigree, scientists can determine the following:
• If the trait is sex-linked (on the X or Y chromosome) or autoso-
mal (on a chromosome that does not determine sex).
• If the trait is inherited in a dominant or recessive fashion.
Sometimes pedigrees can also help determine whether individu-
als with the trait are heterozygous or homozygous.
16
Introduction to Pedigree Symbols

Here’s a larger pedigree collected from an extended family all living in a small
• Males are represented by squares. town.
• Females are represented by circles.

• Filled symbols show individuals who exhibit the trait in question. Half-shaded
symbols show individuals who are carriers. Q2. This disease is very severe and strikes early in childhood.

• A horizontal line between two symbols represents a mating. A) True

• A vertical line descends from parents to a horizontal line shared by all their B) False
offspring.
Q3. This large pedigree shows a dominant trait because:
• A diagonal line through a symbol indicates that person is deceased.
A) Mostly males are affected.
• Roman numerals (I, II, III,…) represent generations.
B) The family is very large.
• Arabic numerals (1, 2, 3,…) represent the birth order of siblings.
C) The trait shows up every generation.
• Specific combinations of numerals (like II-3) uniquely identify each individual
in the pedigree. Many pedigrees do not include numerals
D) Filled symbols always show dominance
Q1. Individual II-5 in the pedigree shown is:

A) A male who does not exhibit the trait.

B) A father.

C) Has three affected siblings.

D) All of the above.

17
Review 1.2 Mendelian Genetics

Question 1 of 3
Different versions of the
same chromosome are
called

A. genes

B. alleles

C. phenotypes

D. gametes

Check Answer

18
Section 3
Non-Mendelian Genetics
LEARNING TARGETS
1. Many characteristics have more complex
inheritance patterns than those studied by
Mendel. They are complicated by factors such
as codominance, incomplete dominance,
multiple alleles, and environmental influences.
2. Pleiotropy is when one gene may affect more
than one trait
3. Epistasis is the when one gene affects the
expression of another gene.
Green, blue, brown, black, hazel, violet, or grey. What color are your eyes?
Of course human eyes do not come in multi-color, but they do come in many col-
ors. How do eyes come in so many colors? That brings us to complex inheritance
patterns, known as non-Mendelian inheritance. Many times inheritance is more
complicated than the simple patterns observed by Mendel.
Non-Mendelian Inheritance
The inheritance of characteristics is not always as simple as it is for the characteris-
tics that Mendel studied in pea plants. Each characteristic Mendel investigated
was controlled by one gene that had two possible alleles, one of which was com-
pletely dominant to the other. This resulted in just two possible phenotypes for
each characteristic. Each characteristic Mendel studied was also controlled by a
gene on a different (non-homologous) chromosome. As a result, each characteris-
tic was inherited independently of the other characteristics. Geneticists now know
that inheritance is often more complex than this.
A characteristic may be controlled by one gene with two alleles, but the two alleles
may have a different relationship than the simple dominant-recessive relationship
that you have read about so far. For example, the two alleles may have a codomi-
nant or incompletely dominant relationship.
19
Codominance
Codominance occurs when both alleles are expressed equally in
the phenotype of the heterozygote. The red and white flower in
the figure has codominant alleles for red petals and white petals.
Codominance. The flower
has red and white petals
because of codominance
of red-petal and white-
petal alleles.
Incomplete Dominance
Incomplete dominance occurs when the phenotype of the off-
spring is somewhere in between the phenotypes of both parents;
a completely dominant allele does not occur. For example, when
red snapdragons (CR CR ) are crossed with white snapdragons (CW
CW ), the F1 hybrids are all pink heterozygotes for flower color (CR
CW ). The pink color is an intermediate between the two parent col-
ors. When two F1 (CR CW ) hybrids are crossed they will produce
red, pink, and white flowers. The genotype of an organism with
incomplete dominance can be determined from its phenotype (Fig-
ure below).
Incomplete Dominance. The flower has pink petals because of incomplete
dominance of a red-petal allele and a recessive white-petal allele.
Multiple Alleles
Many genes have multiple alleles. An example is ABO blood
type in humans. There are three common alleles for the gene that
controls this characteristic. The alleles IA and IB are dominant over
i. A person who is homozygous recessive ii has type O blood. Ho-
mozygous dominant IA IA or heterozygous dominant IA i have type
A blood, and homozygous dominant IB IB or heterozygous domi-
nant IB i have type B blood. IA IB people have type AB blood, be-
cause the A and B alleles are codominant. Type A and type B par-
ents can have a type AB child. Type A and type B parents can
also have a child with Type O blood, if they are both heterozygous
( IB i , IA i ).
20
 Type A blood: IA IA , IA i
Type B blood: IB IB , IB i
Type AB blood: IA IB
Type O blood: ii
Polygenic Characteristics
Polygenic characteristics are controlled by more than one gene,
and each gene may have two or more alleles. The genes may be
on the same chromosome or on non-homologous chromosomes.
If the genes are located close together on the same chromo-
some, they are likely to be inherited together. However, it is pos-
sible that they will be separated by crossing-over during meio-
sis, in which case they may be inherited independently of one
another.
If the genes are on non-homologous chromosomes, they may
be recombined in various ways because of independent assort-
ment.
For these reasons, the inheritance of polygenic characteristics is
very complicated. Such characteristics may have many possible
phenotypes. Skin color and adult height are examples of poly-
genic characteristics in humans. Do you have any idea how many
phenotypes each characteristic has?
Human Adult
Height. Like many
other polygenic
traits, adult height
has a bell-shaped
distribution.
Effects of Environment on Phenotype
Genes play an important role in determining an organism’s charac-
teristics. However, for many characteristics, the individual’s pheno-
type is influenced by other factors as well. Environmental factors,
such as sunlight and food availability, can affect how genes are
expressed in the phenotype of individuals. Here are just two exam-
ples:
Genes play an important part in determining our adult height.
However, factors such as poor nutrition can prevent us from
achieving our full genetic potential.
21
 Review 1.3 Non-Mendelian Genetics
Genes are a major determinant of human skin color. However,
exposure to ultraviolet radiation can increase the amount of pig- Question 1 of 3
ment in the skin and make it appear darker. When both alleles are expressed equally.

Pleiotropy

Sometimes a single gene may affect more than one trait. This is
called pleiotropy. An example is the gene that codes for the main
protein in collagen, a substance that helps form bones. The gene
A. multiple alleles
for this protein also affects the ears and eyes. This was discov-
ered from mutations in the gene. They result in problems not only
B. incomplete dominance
in bones but also in these sensory organs.
C. codominance
Epistasis

In other cases, one gene affects the expression of another gene.

D. polygenic traits
This is called epistasis. Epistasis is similar to dominance, except
that it occurs between different genes rather than between differ-
ent alleles for the same gene. An example is the gene coding for
widow’s peak. A gene that codes for baldness would “hide” the
widow’s peak trait if it occurred in the same person.
Check Answer

22
 Section 4

Chi - Square Test

LEARNING TARGETS

1. Students can determine whether the

predicted pattern of inheritance is probable Movie 1.1 Example of a Chi-Square Goodness of Fit Test
using the Chi-Square Goodness of Fit test

2. Students can share and explain their data

and outcomes to peers

23
Guidance
To analyze patterns between distinct categories, such as genders,
political candidates, locations, or preferences, we use the chi-
square goodness-of-fit test.
This test is used when estimating how closely a sample matches
the expected distribution (also known as the goodness-of-fit test)
and when estimating if two random variables are independent of
one another.
In this lesson, we will learn more about the goodness-of-fit test
and how to create and evaluate hypotheses using this test.
The Chi-Square Distribution
The chi-square distribution can be used to perform the goodness-
of-fit test, which compares the observed values of a categorical
variable with the expected values of that same variable.
Example A
We would use the chi-square goodness-of-fit test to evaluate if
there was a preference in the type of lunch that grade students
bought in the cafeteria. For this type of comparison, it helps to
make a table to visualize the problem. We could construct the fol-
lowing table, known as a contingency table, to compare the ob-
served and expected values.
Research Question: Do students prefer a certain type of lunch?
Using a sample of 100 students, we recorded the following infor-
mation:
Frequency of Type of School Lunch Chosen by Students
If there is no difference in which type of lunch is preferred, we
would expect the students to prefer each type of lunch equally. To
calculate the expected frequency of each category when assum-
ing school lunch preferences are distributed equally, we divide the
number of observations by the number of categories. Since there
are 100 observations and 4 categories, the expected frequency of
each category is 100/4 , or 25.
The Chi-Square Statistic
The value that indicates the comparison between the observed
and expected frequency is called the chi-square statistic . The
idea is that if the observed frequency is close to the expected fre-
quency, then the chi-square statistic will be small. On the other
24
hand, if there is a substantial difference between the two frequen- Using our example about the preferences for types of school
cies, then we would expect the chi-square statistic to be large. lunches, we calculate the degrees of freedom as follows:

To calculate the chi-square statistic, x2 , we use the following for- degrees of freedom = number of categories - 1
mula:
3=4-1

There are many situations that use the goodness-of-fit test, includ-
ing surveys, taste tests, and analysis of behaviors. Interestingly,
goodness-of-fit tests are also used in casinos to determine if
where:
there is cheating in games of chance, such as cards or dice. For
example, if a certain card or number on a die shows up more than
x2 is the chi-square test statistic.
expected (a high observed frequency compared to the expected
frequency), officials use the goodness-of-fit test to determine the
O is the observed frequency value for each event.
likelihood that the player may be cheating or that the game may
not be fair.
E is the expected frequency value for each event.

Evaluating Hypotheses Using the Goodness-of-Fit Test

We compare the value of the test statistic to a tabled chi-square
value to determine the probability that a sample fits an expected
Example B
pattern.
Let’s use our original example to create and test a hypothesis us-
Features of the Goodness-of-Fit Test ing the goodness-of-fit chi-square test. First, we will need to state
the null and alternative hypotheses for our research question.
As mentioned, the goodness-of-fit test is used to determine pat-
Since our research question asks, “Do grade students prefer a
terns of distinct categorical variables. The test requires that the
certain type of lunch?” our null hypothesis for the chi-square test
data are obtained through a random sample. The number of de-
would state that there is no difference between the observed and
grees of freedom associated with a particular chi-square test is
the expected frequencies. Therefore, our alternative hypothesis
equal to the number of categories minus one. That is, .

25
would state that there is a significant difference between the ob- Frequency Which Student Select Type of School Lunch
served and expected frequencies.

Null Hypothesis

Ho : O = E (There is no statistically significant difference between

observed and expected frequencies.)

Alternative Hypothesis
Since our chi-square statistic of 10.96 is greater than 7.815, we
Ha: O = (not equal sign) E (There is a statistically significant differ-
reject the null hypotheses and accept the alternative hypothesis.
ence between observed and expected frequencies.)
Therefore, we can conclude that there is a significant difference
between the types of lunches that grade students prefer.
Also, the number of degrees of freedom for this test is 3.

Using an alpha level of 0.05, we look under the column for 0.05
and the row for degrees of freedom, which, again, is 3. According
to the standard chi-square distribution table, we see that the criti-
cal value for chi-square is 7.815. Therefore, we would reject the
null hypothesis if the chi-square statistic is greater than 7.815.

Note that we can calculate the chi-square statistic with relative

ease.

26
www.ck12.org

Chi-Square Test Practice

True False Questions

Indicate True or False for the following Statements.

1. For a 3 ⇥ 3 contingency table, the number of degrees of freedom will be 5. ( True/False )

2. If the p-value is less than 0.05, then we do not accept the null hypothesis. ( True/False )
3. The goodness-of-fit test is used to determine the patterns of distinct categorical variables. ( True/False )
4. Both the chi-square distribution and the t-distribution are always symmetrical distributions. ( True/False )
5. The value of chi square for the given die problem is 11.76.

( True/False )
6. In c2 test, degrees of freedom is equal to c 2. ( True/False )
7. The formula used to calculate chi-square statistic is

(O E)2 . ( True/False ) . ( True/False )

c2 = Â
E
8. Goodness-of-fit test is always a right tail test. ( True/False )
9. The c2 test is NOT non-parametric test. ( True/False )
10. The chi-square value from the given table is 6.7.

( True/False )
11. If the difference between the observed and expected frequency is 0 for all outcomes, then the chi-square test
statistic will have a value of 1. ( True/False )
12. David randomly tossed a die 180 times and recorded the results in the given table. The calculated value of c2
is 1.932

27
 Section 5

MEIOSIS
LEARNING TARGETS
1. Meiosis is the type of cell division that
produces gametes.
2. Meiosis involves two cell divisions and
produces four haploid cells.
3. Sexual reproduction has the potential to
produce tremendous genetic variation in
offspring. This is due in part to crossing-over
during meiosis.
How do you make a cell with half the DNA?
Meiosis. This allows cells to have half the number of chromosomes, so two of
these cells can come back together to form a new organism with the complete
number of chromosomes. This process not only helps produce gametes, it also en-
sures genetic variation.
Movie 1.2 Mitosis, Meiosis and Sexual Reproduction

4. Sexual reproduction has the potential to

produce tremendous genetic variation in
offspring.

5. This variation is due to independent

assortment and crossing-over during meiosis,
and random union of gametes during
fertilization.

Khan Academy video

28
Meiosis
The process that produces haploid gametes is meiosis. Meiosis
is a type of cell division in which the number of chromosomes is
reduced by half. It occurs only in certain special cells of the organ-
isms. During meiosis, homologous chromosomes separate, and
haploid cells form that have only one chromosome from each
pair. Two cell divisions occur during meiosis, and a total of four
haploid cells are produced. The two cell divisions are called meio-
sis I and meiosis II. The overall process of meiosis is summarized
in the Figure below .
Overview of Meiosis. During meiosis, homologous chromosomes separate
and go to different daughter cells. This diagram shows just the nuclei of the
cells. Notice the exchange of genetic material that occurs prior to the first
cell division.
Phases of Meiosis
Meiosis I begins after DNA replicates during interphase of the cell
cycle. In both meiosis I and meiosis II, cells go through the same
four phases as mitosis - prophase, metaphase, anaphase and te-
lophase. However, there are important differences between meio-
sis I and mitosis. The flowchart in the Figure below shows what
happens in both meiosis I and II.
Phases of Meiosis. This flowchart of meiosis shows meiosis I in greater detail
than meiosis II. Meiosis I—but not meiosis II—differs somewhat from mitosis.
Compare meiosis I in this flowchart with the earlier figure featuring mitosis.
How does meiosis I differ from mitosis?
29
Compare meiosis I in this flowchart with the figure from the Mito-
sis and Cytokinesis concept. How does meiosis I differ from mito-
sis? Notice at the beginning of meiosis (prophase I), homologous
chromosomes exchange segments of DNA. This is known as
crossing-over , and is unique to this phase of meiosis.
Meiosis I
1. Prophase I: The nuclear envelope begins to break down, and
the chromosomes condense. Centrioles start moving to oppo-
site poles of the cell, and a spindle begins to form. Importantly,
homologous chromosomes pair up, forming tetrads, which is
unique to prophase I. In prophase of mitosis and meiosis II, ho-
mologous chromosomes do not form pairs in this way.
Crossing-over occurs during this phase (see the Genetic Varia-
tion concept).
2. Metaphase I: Spindle fibers attach to the paired homologous
chromosomes. The paired chromosomes line up along the
equator (middle) of the cell. This occurs only in metaphase I. In
metaphase of mitosis and meiosis II, it is sister chromatids that
line up along the equator of the cell. Independent Assortment
occurs here.
3. Anaphase I: Spindle fibers shorten, and the chromosomes of
each homologous pair start to separate from each other. One
chromosome of each pair moves toward one pole of the cell,
and the other chromosome moves toward the opposite pole.
4. Telophase I and Cytokinesis: The spindle breaks down, and
new nuclear membranes form. The cytoplasm of the cell di-
vides, and two haploid daughter cells result. The daughter
cells each have a random assortment of chromosomes, with
one from each homologous pair. Both daughter cells go on to
meiosis II. The DNA does not replicate between meiosis I and
meiosis II.
Meiosis II
1. Prophase II: The nuclear envelope breaks down and the spin-
dle begins to form in each haploid daughter cell from meiosis I.
The centrioles also start to separate.
2. Metaphase II: Spindle fibers line up the sister chromatids of
each chromosome along the equator of the cell.
3. Anaphase II: Sister chromatids separate and move to opposite
poles.
4. Telophase II and Cytokinesis: The spindle breaks down, and
new nuclear membranes form. The cytoplasm of each cell di-
vides, and four haploid cells result. Each cell has a unique com-
bination of chromosomes.
30
 Movie 1.3 Meiosis Animation
Genetic Variation
Sexual reproduction results in infinite possibilities of genetic
variation. In other words, sexual reproduction results in offspring
that are genetically unique. They differ from both parents and also
from each other. This occurs for a number of reasons.
When homologous chromosomes form pairs during prophase I
of meiosis I, crossing-over can occur. Crossing-over is the ex-
change of genetic material between homologous chromo-
somes. It results in new combinations of genes on each chro-
mosome.
When cells divide during meiosis, homologous chromosomes
are randomly distributed to daughter cells, and different chro-
mosomes segregate independently of each other. This called is
called independent assortment. It results in gametes that
have unique combinations of chromosomes.
In sexual reproduction, two gametes unite to produce an off-
spring. But which two of the millions of possible gametes will it
be? This is likely to be a matter of chance. It is obviously an-
other source of genetic variation in offspring. This is known as
random fertilization.
All of these mechanisms working together result in an amazing
amount of potential variation. Each human couple, for example,
has the potential to produce more than 64 trillion genetically
unique children. No wonder we are all different!
Crossing-Over
Crossing-over occurs during prophase I, and it is the exchange of
genetic material between non-sister chromatids of homologous
chromosomes. Recall during prophase I, homologous chromo-
somes line up in pairs, gene-for-gene down their entire length,
forming a configuration with four chromatids, known as a tetrad .
At this point, the chromatids are very close to each other and
some material from two chromatids switch chromosomes, that is,
the material breaks off and reattaches at the same position on the
homologous chromosome (Figure on the next page). This ex-
change of genetic material can happen many times within the
31
same pair of homologous chromosomes, creating unique combi-
nations of genes. This process is also known as recombination .
people than the number of individuals alive today. Sexual repro-
duction is the random fertilization of a gamete from the female us-
ing a gamete from the male. In humans, over 8 million (2 23 ) chro-
mosome combinations exist in the production of gametes in both
the male and female. A sperm cell, with over 8 million chromo-
some combinations, fertilizes an egg cell, which also has over 8
million chromosome combinations. That is over 64 trillion unique
combinations, not counting the unique combinations produced by
crossing-over. In other words, each human couple could produce
a child with over 64 trillion unique chromosome combinations!

Movie 1.4 Meiosis

Crossing-over. A maternal strand of DNA is shown in red. A paternal strand

of DNA is shown in blue. Crossing over produces two chromosomes that
have not previously existed. The process of recombination involves the
breakage and rejoining of parental chromosomes (M, F). This results in the
generation of novel chromosomes (C1, C2) that share DNA from both
parents.

Independent Assortment and Random Fertilization

In humans, there are over 8 million configurations in which the

chromosomes can line up during metaphase I of meiosis. It is the
specific processes of meiosis, resulting in four unique haploid
cells, that result in these many combinations. This independent
assortment, in which the chromosome inherited from either the
father or mother can sort into any gamete, produces the potential
for tremendous genetic variation. Together with random fertiliza-
tion, more possibilities for genetic variation exist between any two
32
Review 1.4 Meiosis

Question 1 of 3
What is the importance of meiosis?

A. Allows cells with half the number of

chromosomes.

B. Ensures genetic variability

C. Produces gametes

D. All of the above

Check Answer

33
Alleles

Different versions of genes (ex. dominant and recessive, tall and short, round and wrinkled)

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Autosomal

A trait not found on the X or Y chromosome.

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Blending theory of inheritance

The theory that offspring have a blend, or mix, of the characteristics of their parents.

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Carriers

Individuals who have 1 alleles for a trait but do not show that trait

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Codominance

Occurs when both alleles are expressed equally in the phenotype of the heterozygote

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Crossing-over

When homologous chromosomes exchange segments of DNA during prophase 1 of

meiosis. Results in increased genetic variability.

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Dihybrid cross

A cross between 2 different traits (ex: height and color). When put in to a punnett square it
results in 16 results.

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Dominant

The expressed allele when only one of two alleles is expressed in the phenotype.

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Epistasis

When one gene affects the expression of another gene

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Gametes

Sex cells. Eggs and sperm in humans.

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Genes

Segments or regions on chromosomes.

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Genetics

The science of heredity.

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Genotype

The alleles or actual genetic makeup of an organism.

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Heredity

The passing of traits from parents to offspring

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Heterozygote

An organism with two different alleles of the same type ( Bb )

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Homologous chromosomes

Two versions of the same chromosome. One copy comes from each parent.

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Homozygote

An organism with two alleles of the same type ( BB or bb )

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Incomplete dominance

Occurs when the phenotype of the offspring is somewhere in between the phenotypes of
both parents; a completely dominant allele does not occur

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Independent assortment

When cells divide during meiosis, homologous chromosomes are randomly distributed to
daughter cells, and different chromosomes segregate independently of each other.

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Law of Dominance

It states that there are two factors controlling a given characteristic, one of which
dominates the other.

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Law of independent assortment

Mendel’s law that states that factors controlling different characteristics are inherited
independently of each other.

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Law of Segregation

One of the laws that states that the factors separate and go to different gametes when a
parent reproduces.

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Locus

The position of a gene on a chromosome.

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Meiosis

The process that results in the formation of haploid gametes.

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Multiple (more than two) alleles

When there are more than 2 alleles for a trait. Example: blood types.

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Pedigree

A chart that shows the inheritance of a trait over several generations. A pedigree is
commonly created for families, and it outlines the inheritance patterns of genetic disorders.

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Phenotype

The expression of an organism’s genotype.

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Pleiotropy

When a single gene may affect more than one trait.

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Polygenic characteristics

Characteristics that are controlled by more than one gene, and each gene may have two or
more alleles.

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Probability

The likelihood, or chance, that a certain event will occur.

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Punnett square

A chart that allows you to easily determine the expected percentage of different genotypes
in the offspring of two parents

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Recessive

The allele that is not expressed,

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Recombination

This exchange of genetic material can happen many times within the same pair of
homologous chromosomes, creating unique combinations of genes.

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Sex-linked

A trait found on the X or Y chromosome.

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Sexual reproduction

Results in offspring that are genetically unique. They differ from both parents and also from
each other

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Test cross

A valuable tool in predicting the genotype of the organism in question. The test cross
method was developed by the father of genetics, Mendel. The goal in a test cross is to
discover if the genotype is homozygous dominant (AA) or heterozygous (Aa)

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Tetrad

During prophase I, homologous chromosomes line up in pairs, gene-for-gene down their

entire length, forming a configuration with four chromatids.

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