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CHAPTER XIV: MENDELIAN GENETICS

Lesson 1: Genetics Studies, Similarities and
Differences
Genetics is the study of heredity.

Heredity is a biological process whereby a

parent passes certain genes onto their
children or offspring.

Every child inherits genes from both

of their biological parents and these genes,
in turn, express specific traits. Some of
these traits may be physical for example hair
and eye color etc.

On the other hand, some genes may

also carry the risk of certain diseases and
disorders that may be passed on from
parents to their offspring.

Genes in the Cell

The genetic information lies within the cell nucleus of each living cell in the
body. The information can be considered to be retained in a book for example. Part of
this book with the genetic information comes from the father while the other part
comes from the mother.

Chromosomes

The genes lie within the chromosomes. Humans have 23 pairs of these small
thread-like structures in the nucleus of their cells. 23 or half of the total 46 comes
from the mother while the other 23 comes from the father.

The chromosomes contain genes just like pages of a book. Some chromosomes
may carry thousands of important genes while some may carry only a few.

The chromosomes, and therefore the genes, are made up of the chemical
substance called DNA (Deoxyribonucleic Acid). The chromosomes are very long thin
strands of DNA, coiled up tightly.
 At one point along their
length, each chromosome has a
constriction, called the centromere.
The centromere divides the
chromosomes into two ‘arms’: a long
arm and a short arm.

Chromosomes are numbered

from 1 to 22 and these are common
for both sexes and called
autosomes. There are also two
chromosomes that have been given
the letters X and Y and termed sex
chromosomes. The X chromosome
is much larger than the Y
chromosome.

Males and Females

Women have 46 chromosomes (44 autosomes plus two copies of the X

chromosome) in their body cells. They have half of this or 22 autosomes plus an X
chromosome in their egg cells.

Men have 46 chromosomes (44 autosomes plus an X and a Y chromosome) in

their body cells and have half of these 22 autosomes plus an X or Y chromosome in
their sperm cells.

When the egg joins with the sperm, the resultant baby has 46 chromosomes
(with either an XX in a female baby or XY in a male baby).

Lesson 2: It all Began at Garden Peas

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 Johann
Mendel. With his careful experiments, Mendel uncovered the secrets of heredity, or
how parents pass characteristics to their offspring.

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 mind, sound scientific methods, and
good luck. You’ll see why when you read about Mendel’s experiments.

Why Study Pea Plants?

Why did Mendel choose common, garden-variety pea plants

for his experiments? Pea plants are a good choice because of the
following reasons:

• They are fast growing and easy to raise.

 • Produces many offspring.

• Ease in manipulating pollination (cross-pollination).

• They also have several visible characteristics with

contrasting forms. These characteristics, which are shown in
Figure below, include seed form and color, flower color, pod
form and color, placement of pods and flowers on stems, and
stem length. Each characteristic has two common values. For
example, seed form may be round or wrinkled, and flower color
may be white or purple (violet).

Mendel investigated seven different characteristics in pea plants. In this chart, cotyledons refer
to the tiny leaves inside seeds. Axial pods are located along the stems. Terminal pods are
located at the ends of the stems.

There are a few important vocabulary terms we should iron-out

before diving into Mendel's Laws.

GENOTYPE = The genes present in the DNA of an organism. We will use a pair of
letters (ex: Tt or YY or ss, etc.) to represent genotypes for one particular trait.
There are always two letters in the genotype because (as a result of sexual
reproduction) one code for the trait comes from mama organism & the other
comes from papa organism, so every offspring gets two codes (two letters).

• Now, turns out there are three possible GENOTYPES—two big letters (like
"TT"), one of each ("Tt"), or two lowercase letters ("tt"). Since WE LOVE
VOCABULARY, each possible combo has a term for it.
 • When we have two capital or two lowercase letters in the GENOTYPE (ex: TT or
tt) it's called homozygous ("homo" means "the same"). Sometimes the term
"PURE" is used instead of homozygous.

• When the GENOTYPE is made up of one capital letter & one lowercase letter
(ex: Tt) it's called heterozygous ("hetero" means "other"). Just to confuse you, a
heterozygous genotype can also be referred to as HYBRID.

Let's Summarize:

Genotype = genes present in an organism (usually abbreviated as two letters)

TT = homozygous = pure Tt = heterozygous = hybrid tt = homozygous = pure

PHENOTYPE = How the trait physically shows-up in the organism. Do you want to
know the simplest way to determine an organism's phenotype? Look at it. Examples of
phenotypes: blue eyes, brown fur, striped fruit, yellow flowers.

ALLELES =
alternative

forms of the same gene.

Alleles for a trait are located
at corresponding positions
on homologous
chromosomes.

Remember, just a second ago

when explaining genotypes
that “one code (letter) comes
♂
from the male ( ) & one
code (letter) comes from male
♀
( )”.

An example of alleles for flower color in pea plants are the dominant purple
allele, and the recessive white allele

Lesson 3: Principle of Dominance and Recessiveness

Alleles Can Be Dominant or Recessive

Most familiar animals and some plants have paired chromosomes and are
described as diploid. They have two versions of each chromosome: one contributed by
the female parent in her ovum and one by the male parent in his sperm. These are
joined at fertilization. The ovum and sperm cells (the gametes) have only one copy of
each chromosome and are described as haploid.

Mendel’s Law of Dominance states that in a cross of parents that are pure for
contrasting traits, only one form of the trait will appear in the next generation. Offspring
that are hybrid for a trait will have only the dominant trait in the phenotype. The recessive
allele will remain “hidden,” but will be transmitted to offspring by the same manner in
which the dominant allele is transmitted. The recessive trait will only be expressed by
offspring that have two copies of this allele; these offspring will breed true when self-
crossed.

Now, in our modern wisdom, we use "allele" or "gene" instead of what Mendel
called "factors". There is a gene in the DNA of pea plants that controls plant height
(makes them either tall or short). One form of the gene (allele) codes for tall, and the
other allele for plant height codes for short. For abbreviations, we use the capital "T"
for the dominant tall allele, and the lowercase "t" for the recessive short allele.

Let's revisit the three possible genotypes for pea plant height & add some MORE
VOCABULARY.

Genotype Note: the only way the

Genotype Vocabulary Phenotype
Symbol recessive trait shows-
up in the phenotype is
homozygous DOMINANT if the genotype has 2
TT tall
or pure tall lowercase letters (i.e. is
Heterozygous DOMINANT homozygous recessive).
Tt tall
or hybrid Also note: hybrids
homozygous RECESSIVE always show the
tt short dominant trait in
or pure short
their phenotype.

The PUNNETT SQUARE (P-Square for short)

OK Patricians, now is as good of time to introduce you to a new friend, the

Punnett Square. This little thing helps us illustrate the crosses Mendel did, and will
assist you in figuring out a multitude of genetics problems.

We will start by using a P-Square to illustrate Mendel’s Law of Dominance.

Recall that he "discovered" this law by crossing a pure tall pea plant & a pure short
pea plant. In symbols, that cross looks like this:

Parents (P): TT x tt

Where: T = the dominant allele for tall stems t

= recessive allele for short stems

SOLUTION:
Legend: _____T = tall stems_____

_____t = short stems_____

Cross: ___TT_____ X ___tt_____

Gametes: ___T___; ___T___ X ___t___; ___t___

Inside the 4 boxes are the possible

genotypes (with respect to plant height) of the
offspring from these parent pea plants. In this case,
the only possible genotype is Tt (heterozygous). In
hybrids, the dominant trait (whatever the capital
letter stands for) is the one that appears in the
phenotype, so all the offspring from this cross will
have tall stems.

To "fill in the boxes" of the Punnett Square,

say to yourself "letter from the left & letter from the
top". The "t" from the left is partnered with the "T"
from the top to complete each of the four squares.

A summary of this cross would be:

Parent Pea Plants Offspring

(P Generation) (F1 Generation)

Genotypes: Phenotypes: Genotypes: Phenotypes:

TT x tt tall x short 100% Tt 100% tall

BPHS LM 8|Page
 Now, a helpful thing to recognize is this:

Any time two parent organisms look different for a trait, and
all their offspring resemble only one of the parents, you are
dealing with Mendel's Law of Dominance.

All the offspring are heterozygous for the trait, one parent is
homozygous dominant, and the other is homozygous recessive.

Check Your Understanding!

Imagine that you are a rabbit breeder with two purebred rabbits, a male with
black fur and a female with tan fur. When you cross your rabbits, all of the F1 kits
(baby rabbits) have tan fur.
SOLUTION:
Legend: ________________________
________________________
Cross: _________ x _________
Gametes: ______; ______ x ______; ______

Genotypes: _____________________
_____________________
_____________________
_____________________
Phenotypes: _____________________
_____________________
_____________________
_____________________
Name: _____________________________________ Year/Sec: __________________

Activity 1
Monohybrid Cross

1. In cats, long hair (s) is recessive to short hair (S). A true-breeding (homozygous)
short-haired male is mated to a long-haired female. What will their kittens look like? (5
points)
SOLUTION
Legend: ________________________
________________________
Cross: _________ x _________
Gametes: ______; ______ x ______; ______
Genotypes: _____________________
_____________________
_____________________
_____________________
Phenotypes: _____________________
_____________________ ___________________________
_____________________ ___________________________
_____________________ ___________________________
2. In pea plants, spherical seeds (S) are dominant to dented seeds (s). In a genetic
cross of two plants that are heterozygous for the seed shape trait, what fraction of the
offspring should have spherical seeds? (5 points)
SOLUTION:
Legend: ________________________
________________________
Cross: _________ x _________
Gametes: ______; ______ x ______; ______
Genotypes: _____________________
_____________________
_____________________
_____________________
Phenotypes: _____________________
_____________________ ___________________________
_____________________ ___________________________
_____________________ ___________________________

Lesson 4: Mendel’s Law of Segregation

Mendel’s Law of Segregation states that during the formation of gametes (eggs or
sperm), the two alleles responsible for a trait separate from each other. Alleles for a trait
are then "recombined" at fertilization, producing the genotype for the traits of the
offspring.

Recall that his original cross for the tall & short pea plants was:

Parents F1 Offspring
Genotype(s) TT x tt 100% Tt
Phenotype(s) tall x short 100% tall

So, he takes two of the "F1" generation (which are tall) & crosses them. I would
think that he is figuring that he's going get all tall again (since tall is dominant). But
no! Low & behold he gets some short plants from this cross! His new batch of pea
plants (the "F2" generation) is about 3/4 tall & 1/4 short.

It's easier to picture this law by using a p-square. Our cross is two hybrid
parents, Tt x Tt. The Punnett square would look like this:
 Now, when completing a Punnett Square, we model this "Law of Segregation"
every time. When you "split" the genotype letters & put one above each column & one
in front of each row, you have SEGREGATED the alleles for a specific trait.

You can see from the p-square that any time you cross two hybrids, 3 of the 4
boxes will produce an organism with the dominant trait (in this example "TT", "Tt", &
"Tt"), and 1 of the 4 boxes ends up homozygous recessive, producing an organism with
the recessive phenotype ("tt" in this example).

Our summary:

Parent Pea Plants Offspring

(Two Members of F1 Generation) (F2 Generation)
Genotypes:
Phenotypes:
Genotypes: Phenotypes: 25% TT
75% tall
Tt x Tt tall x tall 50% Tt
25% short
25% tt

A helpful thing to recognize:

Any time two parents have the same phenotype for a trait
but some of their offspring look different with respect to that
trait, the parents must be hybrid for that trait.

Lesson 5: Mendel’s Law of Independent Assortment

Foundational to the law of independent assortment is the law of segregation.
Mendel's earlier experiments led him to formulate this genetics principle. The law of
segregation is based on four main concepts. The first is that genes exist in more

than one form or allele. Secondly, organisms inherit two alleles (one from each parent)
during sexual reproduction. Thirdly, these alleles separate during meiosis, leaving
each gamete with one allele for a single trait. Finally, heterozygous alleles exhibit
complete dominance, as one allele is dominant and the other is recessive. It is the
segregation of alleles that allows for the independent transmission of traits.

Mendel's Law of Independent Assortment states that the alleles of two (or more)
different genes get sorted into gametes independently of one another. In other words,
the allele a gamete receives for one gene does not influence the allele received for
another gene.

Patricians, so far, we've been dealing with one trait at a time. For example,
height (tall or short), seed shape (round or wrinkled), pod color (green or yellow), etc.
Mendel noticed during all his work that the height of the plant and the shape of the
seeds and the color of the pods had no impact on one another. In other words, being
tall didn't automatically mean the plants had to have green pods, nor did green pods
have to be filled only with wrinkled seeds, the different traits seem to be inherited
INDEPENDENTLY.

Please note my emphasis on the word "different". Nine times out of ten, in a
question involving two different traits, your answer will be "independent assortment".
There is a big Punnett square that illustrates this law so I guess we should take a look
at it. It involves what's known as a "dihybrid cross", meaning that the parents are
hybrid for two different traits.

The genotypes of our parent pea plants will be:

 RrGg x RrGg

Where: "R" = dominant allele for round seeds

"r" = recessive allele for wrinkled seeds
"G" = dominant allele for green pods
"g" = recessive allele for yellow pods

Notice that we are dealing with two different traits: (1) seed texture (round or wrinkled)

& (2) pod color (green or yellow). Notice also that each parent is hybrid for each trait
(one dominant & one recessive allele for each trait).

We need to "split" the genotype letters & come up with the possible gametes for each
parent. Keep in mind that a gamete (sex cell) should get half as many total letters (alleles)
as the parent and only one of each letter. So, each gamete should have one "are" and one
"gee" for a total of two letters. There are four possible letter combinations: RG, Rg, rG, and
rg. These gametes are going "outside" the p-square, above 4 columns & in front of 4 rows.
We fill things in just like before—"letters from the left, letters from the top". When we
finish each box gets four letters total (two "are's" & two "gees").

This is what it looks like:

RrGgxRrGg

RG Rg rG rg x RG Rg rG rg

♂ RG Rg rG rg

♀
RRGG RRGg RrGG RrGg

RG round/ round/ round/ round/

green green green green
RRGg RRgg RrGg Rrgg
Rg round/ round/ round/ round/
green yellow green yellow
RrGG RrGg rrGG rrGr
rG round/ round/ wrinkled/ wrinkled/
green green green green
RrGg Rrgg rrGg rrgg
rg round/ round/ wrinkled/ wrinkled/
green yellow green yellow

The results from a dihybrid cross are always the same:

9/16 boxes (offspring) show dominant phenotype for both traits (round & green),
3/16 show dominant phenotype for first trait & recessive for second (round &
yellow),

3/16 show recessive phenotype for first trait & dominant form for second
(wrinkled & green), &

1/16 show recessive form of both traits (wrinkled & yellow).

 So, as you can see from the results, a green pod can have round or wrinkled
seeds, and the same is true of a yellow pod. The different traits do not influence the
inheritance of each other. They are inherited INDEPENDENTLY.

General Summary
Let’s summarize Mendel's Laws by listing the cross that illustrates each.

LAW PARENT CROSS OFFSPRING

TT x tt 100% Tt
DOMINANCE
tall x short tall
Tt x Tt 75% tall
SEGREGATION
tall x tall 25% short
RrGg x RrGg 9/16 round seeds & green pods
INDEPENDENT round & green 3/16 round seeds & yellow pods
ASSORTMENT x 3/16 wrinkled seeds & green pods
round & green 1/16 wrinkled seeds & yellow pods

There you have them, Mendel's huge contributions to the world of science. A
very smart cookie. His work has stood the test of time, even as the discovery &
understanding of chromosomes & genes has developed in the 140 years after he
published his findings. New discoveries have found "exceptions" to Mendel's basic
laws, but none of Mendel's things have been proven to be flat-out wrong.

Hail to the "Father of Genetics"!

Name: _____________________________________ Year/Sec: __________________

Activity 2
Solving a Genetic Mystery
 Lesson 6: Monohybrid Inheritance
When Mendel crossed a pure-breeding lines of plants and recorded the traits
of the hybrid progeny. He found that all of the first-generation (F1) hybrids looked like
one of the parent plants. For example, all the progeny of a purple and white flower
cross were purple (not pink, as blending would have predicted). However, when he
allowed the hybrid plants to self-pollinate, the hidden traits would reappear in the
second-generation (F2) hybrid plants.

Dominant and Recessive Traits

Mendel described each of the trait variants as dominant or recessive. Dominant

traits, like purple flower color, appeared in the F1 hybrids, whereas recessive traits,
like white flower color, did not.

Mendel did thousands of cross-breeding experiments. His key finding was that
there were 3 times as many dominant as recessive traits in F2 pea plants (3:1 ratio).

Inheriting traits
in peas

Mendel crossed pure

lines of pea plants.
Dominant traits, like
purple flower color,
appeared in the first-
generation hybrids
(F1), whereas
recessive traits, like
white flower color,
were masked.
However, recessive
traits reappeared in
second-generation
(F2) pea plants in a
ratio of 3:1 (dominant
to recessive).
 Again, try this!
A pure breed tall plant is crossed with pure breed short plant. All the F1 were tall.
When the F1 were crossed, the offspring were ¾ tall and ¼ short. How would you
represent this in a diagram? Refer to our previous Punnett square diagram for guidance.

Hey Patricians! If you want to learn more about Heredity,

Inheritance, and Variation, visit these YouTube
links:

https://www.youtube.com/watch?v=cWt1RFnWNzk
https://www.youtube.com/watch?v=Mehz7tCxjSE
https://www.youtube.com/watch?v=pv3Kj0UjiLE
 Name: _____________________________________ Year/Sec: __________________

Activity 3
Dihybrid Cross

1. In pea plants, (A) axial is dominant over (a) terminal, let us combine the traits with
yellow (G) and green (g) seed color. Cross between heterozygous axial and heterozygous
yellow with another of the same kind. Find the phenotypic ratio of its offspring? (10
points)

SOLUTION:

Legend: ______________________
______________________
______________________
______________________

Cross: __________ x __________

Gametes: _______; _______; _______; _______ x _______; _______; _______; _______

Genotype: __________________
♂ _________________________
_________________________
_________________________
♀ _________________________
_________________________
_________________________
________ ________ ________ ________ _________________________
________ ________ ________ ________ _________________________
Phenotype: _______________
_________________________
________ ________ ________ ________
________ ________ ________ ________ _________________________
_________________________
_________________________
________ ________ ________ ________ _________________________
________ ________ ________ ________

________ ________ ________ ________

________ ________ ________ ________
2. Suppose you cross a pure-breeding, black-coated dog with curly fur to a pure-
breeding, yellow-coated dog with straight fur. In the F1 generation, all the puppies
have straight, black coats. Next, you interbreed the F1 dogs with one another to get an
F2 generation.

SOLUTION:
Legend: ______________________
______________________
______________________
_____________________

F1 Cross: __________ x __________

Gametes: _______; _______; _______; _______ x _______; _______; _______; _______

♂
Genotype: __________________
_________________________

♀
_________________________
_________________________
_________________________
_________________________
_________________________
________ ________ ________ ________ _________________________
________ ________ ________ ________ _________________________
Phenotype: _______________
_________________________
________ ________ ________ ________
________ ________ ________ ________ _________________________
_________________________
_________________________
________ ________ ________ ________ _________________________
________ ________ ________ ________

________ ________ ________ ________

________ ________ ________ ________
If coat color and coat texture are controlled by two genes that assort independently,
what fraction of the F2 generation puppies are expected to have yellow, straight fur?

_______________________________________________________________
_______________________________________________________________
_______________________________________________________________
_______________________________________________________________
_______________________________________________________________
_______________________________________________________________
_______________________________________________________________
_______________________________________________________________

Post-Test

Let’s Check What You Know!

###########################################################

I MULTIPLE CHOICE: Choose the letter of the best answer, write all answers on a
separate paper which is provided at the end of this pre-test. As soon as you are
done with it, please take a photo of your answer sheet and submit it in our
google classroom immediately.

1. The offspring of two parents that are heterozygous for a given trait have a __________
percent chance of being homozygous for that trait.
A. 0 B. 50
C. 25 D. 100

2. The location on a chromosome where a particular gene is located is known as the

__________.
A. allele B. dihybrid
C. locus D. diploid

3. Advantages of using the garden pea for Mendel’s experiments include all listed below,
EXCEPT:
A. true-breeding varieties were scarce
B. he could expect to observe segregation of traits among the offspring
C. they have relatively short generation time
D. sex organs of the pea are enclosed within the flower

4. What aspects of Mendel’s background gave him the necessary tools to discover the
laws of inheritance?
A. He was a monk B. He was a teacher
C. He lived in Austria D. He had studied math and probability
5. In garden peas, height is determined by a single gene with tall being dominate to
short. If two heterozygous plants are crossed, what proportion of the tall progeny
will be homozygous dominant?
A. three-fourths B. two-thirds
C. one-third D. one-fourth

6. Identical twin has many similar characteristics mainly because they:

A. developed from two eggs which contained the same number of chromosomes
B. were exposed to the same parental environment
C. represent two individuals born of the same parents
D. arose from the same fertilized egg

7. In tobacco, if the diploid number of chromosomes is 48, how many chromosomes will
be found in a pollen grain?
A. 96 B. 48
C. 12 D. 24

8. One parent has curly hair (QQ) and the other has straight hair (qq). These traits both
display incomplete dominance and their children will have wavy hair (Qq). This is
an example of two homozygous genotype producing a __________ genotype.
A. codominant B. homozygous
C. recessive D. heterozygous

9. A colorblind grows up and marries a woman with normal vision. She does not carry
the color-blind allele. What is the chance that their first child will be colorblind?
A. the chances are 75% B. the chances are 50%
C. the chances are 25% D. the chances are 0%

10. In dogs, wire hair (H) is dominant to smooth hair (h). in a cross of a homozygous
wire-haired dog with a smooth-haired dog, what will be the genotype of then F1
generation?
A. HH B. Hh
C. hh D. none of the above