Quarter 2 – Unit 2:

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This module has the following parts and corresponding icons:

This refers to the target deliverables that must be

achieved to ensure a successful transfer of knowledge.
Objectives

This part includes an activity that aims to check what you

already know about the lesson to take. If you get all the
answers correct (100%), you may decide to skip this
Pretest
module.

This provides a high-level overview of the topic. It will

lead you to ask for more to understand the prescribed
Introduction
topics in this module.

This section provides a brief discussion of the lesson.

Discussion
This aims to help you discover and understand new
concepts and skills.

This comprises activities for independent practice to

solidify your understanding and skills of the topic. You
may check the answers to the exercises using the Answer
Practice Exercise
Key at the end of the module.

This task aims to ensure the continuity of learning by

providing additional tasks which will eventually lead to
Assignment
bridging to understanding the upcoming new lesson.

In this module, you will also find…

References This is a list of all sources used in developing this

module.

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 Objectives

To ensure that you will benefit from using this module, the following objectives were set and
must be achieved at the end of this lesson:

a. describe and explain gene segregation and integration,

b. understand the concept of heredity and variation among different types of organisms
and;
c. discuss the different types of gene interaction and its relationship to species variation.

Pretest

Directions: Choose the letter of the best answer on each item. Write your answer on a
separate sheet of paper.

1. Who laid the mathematical foundation of the science of genetics?

a. Gregor Mendel c. Dorothy Hodgkin
b. Carl Correns d. Erich Seysenegg

2. Suppose a white-furred rabbit breeds with a black-furred rabbit and all of their offspring have
a phenotype of gray fur. What does the gene for fur color in rabbits appear to be an example of?
a. Mosaicism
b. Codominance
c. Incomplete Dominance
d. Complete Dominance

3. In the ABO blood group system in humans, if a person of type-B blood has children with a
person of type-AB blood, what blood types could their children have?
a. Type-AB, type-A, and type-B c. Type-AB, type-A, type-B and Type O
b. Type-B, type-AB d. Type-A, type-B

4. A gene for corn has two alleles, one for yellow kernels and one for white kernels. Cross
pollination of yellow corn and white corn results in ears of corn that have an approximately even
mix of yellow and white kernels. Which term best describes the relationship between the two
alleles?
a. Genetic Recombination c. Incomplete Dominance
b. Codominance d. Chimerism

5. In a cross of AaBb x AaBb, what fraction of the offspring can be expected to express one of
the two dominant alleles, but not both?
a. 9/16 b. 1/2 c. 3/8 d. 3/16

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6. Which of the following is an example of Multiple Allelism?
a. Sickle cell anemia
b. Achondroplasia
c. Gigantism
d. All answers are correct.

7. ________ refers to alleles causing the end of an entity which carries it. Basically, lethal genes
are lethal to the organism carrying it.
a. Multiple Alleles c. Gene Interaction
b. Alleles d. Lethal Genes

8. Huntington’s disease is Saint John Paul II’s cause of death.

a. True b. False

9. _________ is a phenotype that is concerned with the unique visual appearance of an organism
as compared with its parents
a. Duplicate Gene c. Dominant Epistasis
b. Recessive Epistasis d. Novel Phenotypes

10. Which of the following is an example of dominant epistasis?

a. Sickle cell anemia c. Albinism
b. Human Blood types (ABO) d. None of the above

11. If there are multiple alleles for a gene which of the following is true?
a. All the alleles same expressed at the same time.
b. Among the multiple copies resent only the most dominant one is expressed.
c. Only two alleles are present at a time.
d. Only one allele is dominant rest all are recessive.

12. If there are 4 alleles for a gene, then what would be the number of genotypes?
a) 5 b) 10 c) 15 d) 20

13. f a woman is homozygous normal and her husband is heterozygous for a genetically
inherited recessive disease and they decide to become parents, what is the probability that they
will have a healthy child?
a. 1 out of 4 b. 2 out of 4 c. 3 out of 4 d. 4 out of 4

14. If two people who are both carriers for a genetically inherited fatal recessive disease decide
to become parents, what will be the odds that their children will also be carriers?
a. 1 out of 4 b. 2 out of 4 c. 3 out of 4 d. 4 out of 4

15. If two parents are heterozygous for a genetically inherited dominant trait, what is the
probability that they will have a child together who has this trait in his or her phenotype?
a. 25% b. 50% c. 75% d. 100%

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 Introduction

Genetics is an enthralling field that investigates the transmission of features from one
generation to the next. It sheds light on the ways through which living creatures transmit their
genetic information. Mendelian inheritance, established by Gregor Mendel in the mid-
nineteenth century, is a key principle in genetics. Mendelian genetics addresses inheritance
patterns for qualities determined by a single gene with two alleles.

In contrast to Mendelian genetics, there are occasions where trait inheritance does not
follow Mendel's straightforward laws. Non-Mendelian genetics refers to circumstances
involving a more complicated interplay of genetic variables. Non-Mendelian inheritance
patterns can occur because of a number of variables, including the presence of numerous
genes, the interaction of genes with the environment, and the occurrence of genetic variants
such as mutations.

Understanding Mendelian and non-Mendelian genetics is critical for unlocking the

mysteries of heredity and genetic variation. Non-Mendelian genetics expands our
understanding of how traits can be inherited in more intricate ways than Mendelian genetics.

We shall look at the main concepts and principles of both Mendelian and non-
Mendelian genetics in this essay. We'll look at Mendel's laws of heredity and how they relate
to different features. We will also investigate non-Mendelian inheritance patterns such as
incomplete dominance, codominance, polygenic inheritance, and epistasis. We may get a full
grasp of how genetic information is passed on and the various mechanisms that govern
inheritance in living creatures by investigating these opposing genetic principles.

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 Lesson
GENE SEGREGATION AND
1 INTEGRATION

Genetics is the scientific study of genes and heredity

—of how certain qualities or traits are passed from parents to
offspring as a result of changes in DNA sequence. A gene is a
segment of DNA that contains instructions for building one or
more molecules that help the body work.

KEY POINTS
Gregor Mendel studied the inheritance of traits in pea plants. He
proposed a model where pairs of "heritable elements," or genes, specified
traits.

Genes come in different versions, or alleles. A dominant

allele hides a recessive allele and determines the organism's
appearance.

A Punnett Square can be used to predict genotypes (allele

combinations) and phenotypes (observable traits) of offspring from
genetic crosses.

A test cross can be used to determine whether

an organism with a dominant phenotype is homozygous or
heterozygous.

Allele is one of two or more versions of DNA

sequence (a single base or a segment of bases) at a given genomic
location. An individual inherits two alleles, one from each parent, for
any given genomic location where such variation exists. If the two
alleles are the same, the individual is homozygous for that allele.

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A. LAW OF SEGREGATION

- It states that everyone that is a diploid has a pair of alleles (copy) for a particular trait. Each
parent passes an allele at random to their offspring resulting in a diploid organism. The allele
that contains the dominant trait determines the phenotype of the offspring.

- When an organism makes gametes, each gamete

receives just one gene copy, which is selected
randomly. This is known as the law of
segregation.

EXAMPLES:

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B. LAW OF INDEPENDENT ASSORTMENT

- 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.

EXAMPLES:

During meiosis, the pairs of homologous

chromosomes are divided in half to form haploid
cells, and this separation, or assortment, of homologous chromosomes is random. This means
that all of the maternal chromosomes will not be separated into one cell, while all paternal
chromosomes are separated into another.

C. LAW OF DOMINANCE RELATIONSHIP

Dominant refers to the relationship between two versions of a gene. Individuals receive two
versions of each gene, known as alleles, from each parent. If the alleles of a gene are
different, one allele will be expressed; it is the dominant gene.

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LAW OF DOMINANCE RELATIONSHIP CONSISTS OF 4 SUBTOPICS NAMELY:

1. COMPLETE DOMINANCE
2. INCOMPLETE OR NO DOMINANCE
3. OVER DOMINANCE
4. CO- DOMINANCE

Complete dominance is a form of dominance wherein

the dominant allele completely masks the effect of the
recessive allele in heterozygous conditions. A gene (or
allele) shows dominance when it suppresses the
expression — or dominates the effects — of the
recessive gene (or allele).

 Incomplete dominance is a form of Gene

interaction in which both alleles of a gene at
a locus are partially expressed, often
resulting in an intermediate or different
phenotype.
 It is also known as partial dominance.

Over Dominance is a type of dominance characterized by a

phenotype that is more pronounced in a heterozygote relative to that
of the counterpart homozygote.

Codominance, as it relates to
genetics, refers to a type of inheritance in which two
versions (alleles) of the same gene are expressed separately
to yield different traits in an individual.

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 Lesson

2 MULTIPLE ALLELES

Alleles

One of two or more versions of DNA sequence (a single base or a segment of bases) at a
given genomic location. An individual inherits two alleles, one from each parent, for any
given genomic location where such variation exists.

Multiple Alleles

Allelism refers to any of the several forms of a gene. These genetic variations arise usually
through mutation and therefore are responsible for hereditary variations.

Examples of Multiple Alleles

For thousands of years, domestic cats have been

bred to achieve a variety of coat colors. The gene
that determines the coat color of the cat appears
to have multiple variants as the coats could range
from black, orange, brown, etc., to white. This
means that there are multiple alleles responsible
for the coat color.

Multiple Alleles in Humans

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There are traits in humans and other organisms that have three or more different types of
alleles (genes). When a trait has three or more distinct alleles, we refer to it as having
multiple alleles inheritance. The human ABO blood type alleles/trait is an example of a trait
with multiple alleles. Three distinct alleles exist: allele A (IA), allele B (IB), and allele i
(IO or i).

Lethal Genes

Lethal genes or lethal alleles are alleles causing the end of an entity which carries it.
Basically, lethal genes are lethal to the organism carrying it.

Lethal
Genes

Recessive Dominant
Lethals Lethals

Recessive lethal genes can A dominant lethal

code for either dominant or mutation is one which
recessive traits, Abut they occurs in a germ cell and
do not actually cause death results in the death of the
unless an organism carries fertilized egg or
two copies of the lethal developing embryo.
allele. Examples of human
Dominant lethal genes
diseases caused by
recessive lethal alleles are expressed in both
include cystic fibrosis, homozygotes and
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sickle-cell anemia, and heterozygotes. An
achondroplasia. example of it is
Huntington’s disease.
Modifier Gene
Modifier genes are defined as genes that affect the phenotypic and/or molecular expression of
other genes. Such genes are not directly linked to a genetic disease but influence the disease
expression and severity, influence a number of genetic diseases.

Gene Interaction
Gene interaction is the process by which the expression of two or more genes influences one
another in different ways as an organism develops a single characteristic. Many of the traits
that comprise living beings are coordinated by various genes.

Gene Interaction

Allelic Non-Allelic

Novel Recessive Dominant Complementary

Duplicate Genes
Phenotypes Epistasis Epistasis Genes

Novel Phenotypes

A phenotype that is concerned with the

unique visual appearance of an organism
as compared with its parents.

Example: Biracial People.

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Dominant and Recessive Epistasis
A dominant epistasis occurs when a dominant gene at one location controls the expression of
a gene at another location. A recessive epistasis occurs when a recessive gene at one location
controls the expression of a gene at another location.

A dominant epistasis is when the dominant

allele of one gene hides the expression of
all alleles of another gene. For example,
the albinism gene is dominant and hides
the expression of the pigment in the eyes,
skin, and hair.

In recessive epistasis, the recessive alleles of one gene

mask the phenotypic expression of a second gene. In
other words, when one gene is homozygous recessive,
it hides the phenotype of the other. A well-known
example of recessive epistasis is pigmentation in mice.
The wild type coat colour, agouti (AA) is dominant to
coloured fur (aa). Anyhow, a separate gene (C) is
necessary for pigmentation production. A mouse with recessive c allele at this locus is unable
to produce pigment and is albino regardless of the allele present in locus A. Therefore, the
genotypes AAcc, Aacc, and aacc all produce an albino phenotype. In this case, the C gene is
epistatic to the A gene. The classical F2 segregation ratio of 9:3:3:1 becomes modified into
9:3:4 in recessive epistasis.

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Complementary Genes
Two or more different genes that work together to contribute to a particular trait.
Complementary genes are two genes that are simultaneously expressed in the phenotype.
Complementary genes are genes that “mix” together to produce a new, distinct phenotype.

Duplicate Genes

Duplicated genes are also called paralogs. They descend from a common ancestor via a
duplication event rather than a speciation event. The type IA form of Charcot-Marie-Tooth
disease is an example of an inherited human genetic disease that's caused by a gene
duplication. Individuals with Charcot-Marie-Tooth disease have damage to their peripheral
nerves, resulting in muscle weakness. The most common cause of this disease is duplication
of the PMP22 gene, located on chromosome 17. This particular gene duplication results in the
production of too much PMP22 protein which causes breakdown of the protective myelin
sheath around the nerve, resulting in nerve damage and muscle weakness.

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 Lesson

3 PSEUDOALLELES

Pseudoalleles

 The term (pseudoallele) was given by MORGAN

in 1928 & by LEWIS in 1948.
 Pseudoalleles are closely linked and functionally
related genes. i.e, they govern different
expressions of the same character.
 A cluster of pseudoalleles is known as
pseudoallele series or a complex locus or a
complex region.

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Environment Influence on Gene Expression

Gene expression is the process by which the information encoded in a gene is turned into a
function.

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Twin Studies: Concordance & Discordance
Concordance is the probability that a pair of individuals will both have a certain
characteristic (phenotypic trait) given that one of the pair has the characteristic.
Discordance occurs when a similar trait is not shared by the persons.

Types of Twins
You’ve probably heard of the most common types of twins—identical (monozygotic) twins,
where the fertilized egg splits and develops two babies with no genetic differences, and
fraternal (dizygotic) twins, where two eggs are fertilized by two sperm and the babies are
genetically unique. But there are many other, less common, twin subtypes. These include
conjoined twins, superfetation, heteropaternal superfecundation, polar body twins, semi-
identical twins, and mirror-image twins.

Monozygotic Twins
Monozygotic (identical) twins are conceived from one fertilized egg, which separates into
two embryos and later becomes two babies. Because each baby comes from the same egg and
sperm, their genetic material (known as chromosomes) is identical. They are assigned the
same sex at birth and have the same physical features, including eye and hair color.

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Dizygotic Twins
Dizygotic (fraternal) twins each come from their own egg (released by the birthing parent’s
body at the same time) and their own sperm. Fraternal twins share the same percentage of
chromosomes as individual siblings born at different times (around 50%, per the National
Human Genome Research Institute), which explains why they don’t look identical and can be
assigned different sexes at birth.

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Probability and Statistical Testing
Probability is a measurement tool that helps us predict the chances of an offspring being
inherited with a particular trait of interest.

SAMPLE PROBLEM:
1. What is the probability that all four are normal? That three will be normal and one albino?
Two normal and two albino? One normal and three albino? All four albino?
ANSWER:
When both parents are heterozygous (Cc) carrier, in each
pregnancy there is 25% chance of birth of an albino i.e. 1 in 4.
So, in each pregnancy, there is 75% chance of birth of a
normal (phenotypic) child i.e. 3 in 4.
Probability of birth of all normal : 34X34X34X34 approx 31%
Probability of birth of all albino : 14X14X14X14 approx
0.39%
Probability of birth of two normal and two albino:
34X34X12X12 approx 3.5%

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Probability of birth of one normal and three albino:
34X14X14X14 approx 1.1%

2. What is the probability that the first son of a woman whose brother is affected will be
affected? What is the probability that the second son of a woman whose brother is affected
will be affected if her first son was affected?

ANSWER:
P(first son has DMD)=25%
P(second son has DMD∣first son has DMD)=50%

Explanation:
If a woman's brother has DMD then the woman's mother is a carrier of the gene. The woman
will get half of her chromosomes from her mother; so there is a 50% chance that the woman
will inherit the gene.
If the woman has a son, he will inherit half of his chromosomes from his mother; so there
would be a 50% chance if his mother was a carrier that he would have the defective gene.
Therefore if a woman has a brother with DMD there is a
50%XX50%=25% chance that her (first) son will have DMD.
If the woman's first son (or any son) has DMD then the woman must be a carrier and there is
a 50% chance that any other son would have DMD.

Line of Probability

Statistical Testing
Statistical geneticists develop statistical methods for understanding the genetic basis of
human diseases and traits. These methods involve large-scale data sets from candidate-gene,
genome-wide and resequencing studies, using both unrelated and related individuals.

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The level of significance is the measurement of the statistical significance. It defines whether
the null hypothesis is assumed to be accepted or rejected. It is expected to identify if the
result is statistically significant for the null hypothesis to be false or rejected.

Chi-Square (Χ²) Tests

A Pearson’s chi-square test is a statistical test for categorical data. It is used to determine
whether your data are significantly different from what you expected.

There are two types of Pearson’s chi-square tests:

The chi-square goodness of fit test is used to test whether the frequency distribution of a
categorical variable is different from your expectations.
The chi-square test of independence is used to test whether two categorical variables are
related to each other.

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When to use a chi-square test
A Pearson’s chi-square test may be an appropriate option for your data if all of the following
are true:
 You want to test a hypothesis about one or more categorical variables. If one or more
of your variables is quantitative, you should use a different statistical test.
 The sample was randomly selected from the population.
 There are a minimum of five observations expected in each group or combination of
groups.

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 Answer Key

Pretest
1. a
2. c
3. a
4. b
5. b
6. a
7. d
8. b
9. d
10. c
11. c
12. b
13. d
14. b
15. c

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 References

https://www.palomar.edu/anthro/practice/mendqui2.htm

https://www.biologyonline.com/dictionary/multiple-alleles

https://www.biologyonline.com/dictionary/law-of-segregation

https://www.khanacademy.org/science/ap-biology/heredity/mendelian-genetics-ap/a/the-law-
of-segregation

https://www.sciencedirect.com/topics/agricultural-and-biological-sciences/codominance

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