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LESSON 1
THE CHROMOSOMAL BASIS OF HEREDITY

Instructions: Read and answer the following questions based on your prior knowledge
about the Basic Genetic Vocabulary. Write the corresponding letter of your answer on the
space provided.

___1. If you wanted to determine the phenotype of an organism, which procedure would
you follow?
a. DNA sequence the parents
b. DNA fingerprint the organism
c. Look at the physical characteristics of the organism
d. Do a dihybrid cross

___2. Who is considered the father of Genetics?

a. Charles Darwin
b. Gregor Mendel
c. James Watson
d. Francis Crick

___3. Which of the following describes an organism that has two different alleles for a
trait?
a. heterozygous
b. homozygous
c. dominant
d. recessive

___4. Brown hair is an example of which of the following?

a. genotype
b. phenotype
c. both
d. neither

___5. Which of the following is the correct definition of genotype?

a. The physical expression of a gene. (Characteristics)
b. A strand of DNA made up of multiple mutations.
c. The expression of one of your parents’ traits.
d. The set of genes in our DNA which is responsible for a particular trait.

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LESSON OBJECTIVES:

Upon accomplishing this module, students will be able to:

A. Define, memorize and illustrate Genetics and other important vocabularies used all
throughout the course

B. Illustrate the timeline of events in the history of Genetics

C. Identify and Appraise the Scientists with major contributions in Genetics

D. Value practical importance of Genetics

TIME FRAME:
This module will be accomplished approximately in 10 hours within 2 weeks to complete
all the activities recommended. This is a distance learning program, thus the time frame is
flexible and largely self-directed.

LEARNING ACTIVITY: AN INVENTORY OF MY TRAITS

Instructions: Your Instructor will group you into six members. Each of you will make
observations of your traits and how your traits differ from others. You will record your
observations in the data tables below and make a bar graph to show the most and least
common traits in the group. You will choose one member from the group to report to the
class the results of your findings.

Table 1.1 AN INVENTORY OF MY TRAITS- Survey

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Complete the survey to find out what combinations of traits you have.

Table 1.2 AN INVENTORY OF MY TRAITS- Data Table

Count how many people in your group have each trait? Fill in the data table below by
counting the number of people who marked “yes” and “no” for each trait.

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AN INVENTORY OF MY TRAITS- Bar Graph

Make a bar graph showing how many people in your group answered “yes” and “no” for
each trait. Be sure to label each trait under the bar you draw for it.

Source: Armstrong, M. (2021) Retrieved from: https://www.medicalnewstoday.com/articles/are-black-babies-born-white

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Figure 1.1 What accounts for family resemblance?

We all know that babies look alike their parents more than they do to unrelated
individuals. A close look to the picture shown above shows some similar features of the
baby from their parent. The passing of traits from one generation to the next is called
INHERITANCE, or HEREDITY (from Latin word, heres, heir). However, an offspring is
not an identical copy of either of the parent or siblings. Along with heredity, there is also
VARIATION. VARIATION is the differences among individuals of the same species.
GENETICS is the study of Heredity and variation. In this course, you will discover
genetics at different levels from organisms, to cells to molecules.

Inorder to understand well the subject, let us first learn some important vocabulary
and concepts:

A GENE is a segment of the DNA that encodes a trait. The accurate sequence of
nucleotides in a gene can differ between copies of the same gene. This means that a gene
can exist in different forms across organisms. These different forms are called ALLELES.
The exact fixed position on a chromosome where the gene is found is called LOCUS.

Figure 1.2 Alleles and Locus of a specific gene in a homologous

chromosome

Source: reudhreghs (2016) Retrieved from: https://socratic.org/questions/how-are-the-terms-gene-locus-and-

allele-related

A diploid organism either has two copies of the same allele or one copy of two
different alleles from the parents. If an individual has two identical alleles, the individual’s
genotype is HOMOZYGOUS. However, if an individual has two different alleles, the
genotype is HETEROZYGOUS for that particular gene. These alleles of a particular gene
can either be dominant or recessive. A DOMINANT allele will always be expressed over a
recessive allele.

The resulting combination of alleles an individual has for a specific gene is called
GENOTYPE. It is the set of genes in the DNA which is responsible for a particular trait.

Consider this classic example. A gene of an individual for eye color has two
different alleles, either brown or blue, one inherited from the mother and the other from
the father. The brown allele is Dominant (B) while the blue allele is recessive (b). If the
child inherits two brown allele (BB) or if a child inherits the two different alleles (Bb)
(heterozygous), then he will have brown eyes. For a child to have a blue eye color, the
child must be homozygous for the blue eye allele (bb).

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Source: Sack, J. (2021) Retrieved from: https://study.com/academy/lesson/punnet-square-definition-example-quiz.html

Figure 1.3 Inheritance chart detailing how an individual may

inherit blue or brown eyes depending on the alleles

The overall observable characteristics of an organism is called PHENOTYPE. An

important distinguishing factor between phenotype ad genotype is that, while genotype is
purely inherited from organism’s parents, the phenotype is not. The phenotype of an
organism is influenced not only by genotype but also with other factors including
Epigenetic modifications (changes in gene expression), environmental and lifestyle
factors.

Factors in the environment that can influence the phenotype of an organism

include nutrition, temperature, humidity and stress. Flamingos are good example of how
environment influences phenotype. Flamingos are classic example of how environment
influences phenotype. While flamingos are known for being vibrantly pink, their natural
color is white. The pink color is caused by the pigments in the organisms in their diet.
Another example is our skin color. Although our genes control the amount of melanin our
body can produce, it is the exposure to ultraviolet light in sunny climate causes the
darkening of the melanin in our skin. The more we expose ourselves to sunlight, the darker
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our skin becomes. Identifying phenotype is easy and simple. We only take a look at the
organism’s physical features and make conclusion about them. Observing the genotype on
the other hand is complex. One must undergo genotyping using a variety of biological
assays.

THE RICH HISTORY OF GENETICS

Archeological evidences like pictoral representation, preserved bones and skulls

and dried seeds documents successful domestication of animals and cultivation of plants
thousands of years using artificial selection of genetic variants from wild populations.
Between 800 and 100 B.C, animals such as camels, oxen, and wolves were domesticated
which allowed selective breeding of these species. Cultivation of maize, wheat, rice and
date palm began around 500 B.C. These evidences strongly suggest that our ancestors are
successful in their attempt to manipulate the genetic composition of species.

In the Golden Age of Greek Culture, manuscripts of the Hippocratic School of

Medicine (500 BC) and of Aristotle (324-322 BC) talked about heredity in relation to
human. The Hippocratic treatise “On the Seed” argued that “humors” in different parts of
the human body serves as bearers of hereditary traits. These humors are drawn from
different parts of the body to the semen of the male and are passed on to the offspring. The
humors can either be healthy or diseased. Diseased humors are the reason for deformities
of the offspring. In addition, these humors although acquired from the parents, can be
altered in response to the environment.

Aristotle extended Hippocrates’ thinking and proposed that the male semen
contained a “vital heat” with the capacity to produce offspring of the same “form” (i.e.,
basic structure and capacities) as the parent. Aristotle believed that this heat cooked and
shaped the menstrual blood produced by the female, which was the “physical substance”
that gave rise to an offspring. The embryo developed not because it already contained the
parts of an adult in miniature form (as some Hippocratics had thought) but because of the
shaping power of the vital heat. Although the ideas of Hippocrates and Aristotle sound
primitive and naive today, we should recall that prior to the 1800s neither sperm nor eggs
had been observed in mammals.

Few significant new ideas were introduced between 300 BC to 1600 AD.
However, major ideas were formulated between 1600 and 1850 providing insights for
biological basis of life. William Harvey investigated reproduction and development in
response to the theory of epigenesist, which states that an organism develops from a
fertilized egg following developmental events that transform the egg into an adult. This
theory conflict with another theory called the Theory of Perforation which states that the
fertilized egg contains a complete mature adult called a Homunculus (Figure 1.4) In 1830,
Theodore Scwann and Matthias Schleiden proposed the Cell Theory. This states that all
organisms are composed of basic structural unit called cell which are derived from pre-
existing cells. Louis Pasteur disproved the spontaneous generation theory. From this time
on, living organism were then considered to be derived from pre-existing organisms and
to consist of cells.

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Source: Klug, et al
Klug,
(2014)et al (2014)

The revolutionary work of Charles Darwin and Gregor Mendel in the mid-1800s
was the pilot for the rapid advancement of genetics. In 1859, Charles Darwin published
the Origin of Species describing his idea in evolution. His geological, geographical and
biological observations convinced that existing species came from a descent with changes
and modification from ancestral species. His journey on the HMS Beagle (1831-1836) led
him to formulate the Theory of Natural Selection. Alfred Wallace was in line with Darwin
in the theory and he further stated that natural selection is based on the observation that
populations tend to contain more offspring than the environment can support, leading to a
struggle for survival among individuals. Those individuals with heritable traits that allow
them to adapt to their environment are better able to survive and reproduce than those with
less adaptive traits. Over a long period of time, advantageous variations, even very slight
ones, will accumulate. If a population carrying these inherited variations becomes
reproductively isolated, a new species may result. Darwin, however, lacked an
understanding of the genetic basis of variation and inheritance, a gap that left his theory
open to reasonable criticism well into the twentieth century. In 1866, Gregor Mendel
published a paper showing how traits are passed on from one generation to the next. His
investigation was little popular until it was partially copied and duplicated and brought to
light by Carl Correns, Hugo de Vries and Erich Tsermak in the 1900s. In the early part of
the twentieth century, it became clear that heredity and development is dependent on the
genetic information carried by the genes that are found in the chromosomes which were
then contributed to each individual by their gemetes- according to the chromosomal theory
of inheritance. This closed and answered all the questions in Darwin’s theory.
Gregor Mendel, an Augustinian monk, conducted a decade-long series of
experiments using pea plants. He applied quantitative data analysis to his results and
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showed that traits are passed from parents to offspring in predictable ways. He further
concluded that each trait in the plant is controlled by a pair of factors (which we now call
genes) and that during gamete formation (the formation of egg cells and sperm), members
of a gene pair separate from each other. His work was published in 1866 but was largely
unknown until it was cited in papers published by others around 1900. Once confirmed,
Mendel’s findings became recognized as explaining the transmission of traits in pea plants
and all other higher organisms. His work forms the foundation for genetics, which is
defined as the branch of biology concerned with the study of heredity and variation.
Mendelian genetics will be discussed later.
Mendel did his experiments before the structure and role of chromosomes were
known. About 20 years after his work was published, advances in microscopy allowed
researchers to identify chromosomes (Figure 1.5) and establish that, in most eukaryotes,
members of each species have a characteristic number of chromosomes called the diploid
number (2n) in most of their cells. For example, humans have a diploid number of 46
(Figure 1.6 ). Chromosomes in diploid cells exist in pairs, called homologous
chromosomes.

Source: Klug, et al
(2014)

Reserachers in the later part of the Ninteenth Century described the behavior of
Chromosomes during cell division. Mitosis is when chromosomes are copied and
distributed where each daughter cell are diploid and are identical to the mother cell. In
meiosis, gamete cells are formed where cell produced are haploid cells. Early in the
Ninteenth Century, Walter Sutton and Theodor Boveri in separate works noted that the
behavior of genes during gamete formation by Mendel. From their work, the chromosome

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theory of inheritance was formulated stating that that inherited traits are controlled by
genes residing on chromosomes faithfully transmitted through gametes, maintaining
genetic continuity from generation to generation.
Almost the same time that the chromosome theory of inheritance was proposed,
scientists started to study the inheritance of traits of fruit fly, Drosophila melanogaster.
White- eyed fly was found among the normal red- eyed fly. This is a mutationin one of the
gene in eye color. Mutations are defined as any heritable change in the DNA sequence and
are the source of all genetic variation. The white-eye variant discovered in Drosophila is
an allele of a gene controlling eye color. Alleles are defined as alternative forms of a gene.
Different alleles may produce differences in the observable features, or phenotype, of an
organism. The set of alleles for a given trait carried by an organism is called the genotype.
Using mutant genes as markers, geneticists can map the location of genes on
chromosomes. In 1920s, scientists discovered that proteins and DNA are the major
composition of chromosomes. The large amount of proteins and its wide distribution
throughout cell led the scientists to speculate that protein are the carrier of the genetic
information of the cell. IN 1944, Oswald Avery, Colin Mcleod and Maclyn McCarty
published their works showing that it is the DNA that carries the genetic information of
the cell.
In 1953, James Watson and Francis Crick successfully described the structure of
DNA as a long, ladderlike macromolecule that twists to form a double helix. They also
described the four different nucleotodes containing nitrogenous base namely Adenine (A),
Guanine (G), Cytosine (C) and Thymine (T). These four bases in varios secquences
encode the genetic information. Together with Maurice Wilkins, Watson and Crick were
awarded Nobel Prize for their discovery in 1962.
In 1970s, researchers discovered the restriction enzyme used by bacteria to cut
DNA of attacking viruses. They found out that this enzyme can be used to cut any
organism’s DNA at a specific nucleotide sequence to make fragments. This discovery was
followed by the discovery of other researchers of ways on how to insert the DNA
fragments into carrier DNA molecules called vectors. When bacterial cells are used, these
modified genes can be copied or cloned a thousand times and can be isolated from
bacterial host cells. This is called Recombinant DNA Technology.
The use of recombinant DNA technology and other molecular techniques to make
products is called biotechnology In the United States, biotechnology has quietly
revolutionized many aspects of everyday life; product made by biotechnology are now
found in the supermarket, in health care, in agriculture, and in the court system. A later
chapter contains a detailed discussion of biotechnology, but for now, let’s look at some
everyday examples of biotechnology’s impact.
The use of recombinant DNA technology to genetically modify crop plants has
revolutionized agriculture. Genes for traits including resistance to herbicides, insects, and
genes for nutritional enhancement have been introduced into crop plants. The transfer of
heritable traits across species using recombinant DNA technology creates transgenic
organisms. Herbicide-resistant corn and soybeans were first planted in the mid-1990s, and
transgenic strains now represent about 88 percent of the U.S. corn crop and 93 percent of
the U.S. soybean crop. It is estimated that more than 70 percent of the processed food in

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the United States contains ingredients from transgenic crops. New methods of cloning
livestock such as sheep and cattle have also changed the way we use these animals. In
1996, Dolly the sheep (Figure 1.10) was cloned by nuclear transfer, a method in which the
nucleus of an adult cell is transferred into an egg that has had its nucleus removed. This
method makes it possible to produce dozens or hundreds of genetically identical offspring
with desirable traits and has many applications in agriculture, sports, and medicine.
Biotechnology has also changed the way human proteins for medical use are produced.
Through use of gene transfer, transgenic animals now synthesize these therapeutic
proteins. In 2009, an anticlotting protein derived from the milk of transgenic goats was
approved by the U.S. Food and Drug Administration for use in the United States. Other
human proteins from transgenic animals are now being used in clinical trials to treat
several diseases. The biotechnology revolution will continue to expand as new methods
are developed to make an increasing array of products.
Biotechnology in Genetics and Medicine More than 10 million children or adults
in the United States suffer from some form of genetic disorder, and every childbearing
couple faces an approximately 3 percent risk of having a child with a genetic anomaly.
The molecular basis for hundreds of genetic disorders is now known, and many of these
genes have been mapped, isolated, and cloned. Biotechnology-derived genetic testing is
now available to perform prenatal diagnosis of heritable disorders and to test parents for
their status as “carriers” of more than 100 inherited disorders. Newer methods now under
development offer the possibility of scanning an entire genome to establish an individual’s
risk of developing a genetic disorder or having an affected child. The use of genetic testing
and related technologies raises ethical concerns that have yet to be resolved.
The use of recombinant DNA technology to create genomic libraries prompted
scientists to consider sequencing all the clones in a library to derive the nucleotide
sequence of an organism’s genome. This sequence information would be used to identify
each gene in the genome and establish its function. One such project, the Human Genome
Project, began in 1990 as an international effort to sequence the human genome. By 2003,
the publicly funded Human Genome Project and a private, industryfunded genome project
completed sequencing of the gene-containing portion of the genome. As more genome
sequences were acquired, several new biological disciplines arose. One, called genomics
(the study of genomes), studies the structure, function, and evolution of genes and
genomes. A second field, proteomics, identifies the set of proteins present in a cell under a
given set of conditions, and studies their functions and interactions. To store, retrieve, and
analyze the massive amount of data generated by genomics and proteomics, a specialized
subfield of information technology called bioinformatics was created to develop hardware
and software for processing nucleotide and protein data. Geneticists and other biologists
now use information in databases containing nucleic acid sequences, protein sequences,
and gene-interaction networks to answer experimental questions in a matter of minutes
instead of months and years. A feature called “Exploring Genomics,” located at the end of
many of the chapters in this textbook, gives you the opportunity to explore these databases
for yourself while completing an interactive genetics exercise.

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A. Create a timeline e of the development of Genetics. Your timeline should show the
most important or significant event or theme occurred during each period (short
description if possible). An example below can be your guide.

B. Match the periods in Genetics history in column A to their corresponding

dates found in column B. Use line to connect column A to column B.

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C. Read each question and answer choice carefully and choose the ONE best answer.
Write the letter of your answer on the space provided.
___1. Factors that control traits are called
a. Genes b. Purebreds c. Recessive d. Parents
___2. What does the notation TT means to geneticists?
a. Homozygous dominant b. Homozygous recessive
c. Heterozygous d. Inbred

___3. An organism’s physical appearance is its

a. Genotype b. Phenotype c. Gene d. Allele
___4. An organism’s genotype is its
a. Genetic makeup b. Feather Color c. Physical Appearance d. Stem height
___5. An organism that has two identical alleles for a trait is
a. codominant. b. tall. c. homozygous. d.heterozygous.
___6. Alternate forms of a gene having the same position on a pair of chromosomes
and affecting the same trait are called ______.
a. loci b. alleles c. chromatids d. mutation
___7. Flamingos are naturally white in color, it is only the ____ in the organisms that
they eat that cause them to turn vibrantly pink.
a. Skin b. Pigments c. Blood d. Type
___8. Each linear strand of a DNA has sub- units called
a. Deoxy- Ribose b. Nucleotides
c. Amino Acid d. Macromolecule
___9. Epigenetics refers to changes in:
a. Gene expression b. DNA sequence
c. Gene structure c. DNA frequency
10. If you wanted to determine the phenotype of an organism, which procedure
would you follow?
a. DNA sequence the parents
b. DNA fingerprint the organism

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c. Look at the physical characteristics of the organism

d. Do a dihybrid cross
D. Write a 3- paragraph essay on your idea about the issue presented below. You will be
graded according to this rubrics:

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REFERENCES
William S. Klug, Michael R. Cummings, Charlotte A. Spencer, and Michael A. Palladino
(2014).Concepts of Genetics. Edinburgh Gate, Harlow, Essex CM20 2JE, England: Pearson
Education Limited. Chapter 1’Introduction to Genetics’, pp. 50=73

Lisa Urry, Michael Cain, Steven Wasserman, Peter, Minorsky, Jane Reece.(2016).Campbell
Biology: Hudson Street, New York, USA: Pearson Education Limited. Chapter 3’Genetics’, pp.
253-255

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