Unit 30: Molecular Biology and Genetics

Assignment Brief
Student Name/ID Number S.G. Dhanushi Wijerathne. HSC-B09-032

Unit Number and Title Unit 30: Molecular Biology and Genetics

Academic Year 2024

Unit Tutor Ms. Sasini Wijewarna

Assignment Title Individual Assignment 1

Issue Date
23rd Aug 2024

Submission Date Task 1 Submission Formative Feedback:14th of August

2024
Task 1: Submission of Final Assignment:21st of August
2024

Task 2 & 3: Submission for Formative Feedback:

11th of October 2024

Task 2 & 3: Submission for Summative Feedback:

20th of October 2024

Submission Format

The submission of Task 1, Task 2 and Task 3 in the form of a designed-on MS Word format.
The documents should also carry in-text citation where appropriate and a bibliography
generated by following Harvard referencing style. Use a clear and appropriate font, such as
Times New Roman 12 point. You are required to make use of headings, subheadings, paragraphs,
and illustrations as appropriate and all work must be supported with research.

Unit Learning Outcomes

LO 1: Discuss the organisational structure and function of mammalian DNA and RNA
LO 3: Illustrate inheritance patterns of diseases, using defined conventions
LO 4: Discuss the way in which changes in DNA can be linked to inherited physical effects in humans.

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Transferable skills and competencies developed
Written communication
Problem solving skills
Research and Analytical skills
Critical thinking
Practical skills
Public speaking skills
Vocational scenario

You have been hired to develop relevant educational material and give guided speeches to
supplement the Advanced level students’ knowledge with regards to molecular Biology and
Genetics from the ministry of education. These study materials should be able to provide
knowledge about the structure and function of mammalian DNA and RNA, Genetics and Patterns
of Inheritance and diseases and genes.

Assignment activity and guidance

Task 1 (LO1)
Designing a chapter for a booklet on the topic “Organisational Structure and function of
Mammalian DNA and RNA”. Use appropriate diagrams to support your ideas. The word
limit should be between 3500-4000 excluding the references, in-text citations, figure
legends, etc. The documents should also carry in-text citation where appropriate and a
bibliography generated by following Harvard referencing style.

In the relevant book chapter, the student needs to include information on below mentioned topics:
 Introduction to Molecular Biology
 Central Dogma of Life
 Organisational structure of DNA and RNA how it relates to the efficient functioning of the
cell
 The role that DNA plays in cells becoming specialised for their function in the body
 An analysis on the molecular processes that allow cells to efficiently function in response
to changes in their environment
 A critical evaluation on the importance of nucleic acids being copied from an existing
template to cellular function

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Task 2 (LO3)
Prepare a report on the topic “Organisational Structure and function of Mammalian
DNA and RNA”. Use appropriate diagrams to support your ideas. The word limit should
be between 3500-4000 excluding the references, in-text citations, figure legends, etc. The
documents should also carry in-text citation where appropriate and a bibliography
generated by following Harvard referencing style.

 Introduction to Genetics
 Illustration on the inheritance patterns for dominant and recessive diseases, using genetic
diagrams
 How to predict outcomes of genetic crosses, using the Punnett square
 A review on complex information (including pedigrees) to account for inheritance patterns
of sex-linked disorders
 An evaluation on the ways in which patterns of inheritance such as epistasis can manifest
in phenotype, with relevant examples

Task 3 (LO4)
Prepare a separate report on the topic “Diseases and Genes”. Use appropriate diagrams to
support your ideas. The word limit should be between 3500-4000 excluding the references,
in-text citations, figure legends, etc. The documents should also carry in-text citation where
appropriate and a bibliography generated by following Harvard referencing style.
Following content needs to be covered by your report;
• Introduction to mutations
• The effect on protein structure as a result of a change in a single base pair in DNA
• How the pathologies of serious diseases result from a change in a single base pair of DNA
(with examples)
• An evaluation on the way in which there can be a range of changes to a single gene that
result in a similar disease pathology taking cystic fibrosis and thalassemia as examples
• A critical evaluation on genetic risk factors in the lifetime development of serious diseases,
such as cancers

Recommended Resources
Please note that the resources listed are examples for you to use as a starting point in your
research – the list is not definitive.
Textbooks
ALLISON, L.A. (2011) Fundamental Molecular Biology. 2nd ed. Oxford: Wiley-Blackwell.
BROWN, T.A. (2015) Introduction to Genetics: A Molecular Approach. Boca Raton, FL: CRC
Press/Garland Science.
LEWIS, R. (2017) Human Genetics: The Basics. 12th ed. Abingdon: Routledge.

Web

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 en.wikibooks.org Wikibooks – open access
An Introduction to Molecular
Biology (General reference)
genetics.org.uk The British Genetics
Society (General
reference)
cambridge.org Cambridge Journals – Cambridge
Core Genetics
(Research)

Learning Outcomes and Assessment Criteria

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The following format should be followed when you are submitting the assessment
1. Module Standard Cover Page
2. Assignment brief
3. Plagiarism declaration page
4. Assignment 1 (Task 1,Task 2 and Task 3)

General guidelines for students

1. Individual assessment
2. Use relevant theory/models/frameworks/concepts to support your arguments
3. Students are required to conduct a thorough research using various research
tools and relevant information search. Students are required to identify the
issues or problems for which they must describe, analyze, and discuss in the
assignment.
4. In-text citations where necessary; including for figures and diagrams
5. The assignment should be typed using 1.5 spaces between lines
6. Margins (Normal; Top: 2.54cm, Bottom: 2.54cm, Left: 2.54 cm, Right: 2.54
cm)
7. Alignment: Justify
8. Footer containing page numbers
9. Header containing Assignment title and Index number
10. Bullets and numbering (If necessary)

STUDENT ASSESSMENT SUBMISSION AND DECLARATION

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When submitting evidence for assessment, each student must sign a declaration confirming
that the work is their own.
Student name: S.G. Dhanushi Wijerathne. Assessor name: Ms. Sasini Wijewarna

Issue date: Submission date: Submitted on:

20/08/2024 20/10/2024 20/10/2024

Programme:
Higher National Diploma in Applied Sciences

Unit: Molecular Biology and Genetics

Plagiarism
Plagiarism is a particular form of cheating. Plagiarism must be avoided at all costs and
students who break the rules, however innocently, may be penalised. It is your responsibility
to ensure that you understand correct referencing practices. As a university level student, you
are expected to use appropriate references throughout and keep carefully detailed notes of all
your sources of materials for material you have used in your work, including any material
downloaded from the Internet. Please consult the relevant unit lecturer or your course tutor if
you need any further advice.

Student Declaration
I certify that the assignment submission is entirely my own work and I fully understand the
consequences of plagiarism. I understand that making a false declaration is a form of
malpractice.

Student signature:

Higher Nationals - Summative Assignment Feedback Form

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 Student Name/ID
Unit Title Molecular Biology and Genetics
Assignment Assessor
Number
Date Received
Submission Date 1st
submission
Date Received 2nd
Re-submission submission
Date
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Grade: Assessor Signature: Date:

Resubmission Feedback:
*Please note resubmission feedback is focussed only on the resubmitted work

Grade: Assessor Signature: Date:

Internal Verifier’s Comments:

Signature & Date:

Please note that grade decisions are provisional. They are only confirmed once internal and external
moderation has taken place and grades decisions have been agreed at the assessment board.

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ORGANISATIONAL STRUCTURE
AND FUNCTION OF
MAMMALIAN
DNA AND RNA

Introduction.

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 Figure: genes. (SlideShare, 2012)

Genetics, a branch of biology, focuses on the study of genes, genetic variation, and heredity
in organisms. It is essential for comprehending how traits are passed down through
generations and how genetic information directs growth, development, and function in all
living beings. In mammals specifically, genetics significantly influences both physical traits
and vulnerability to various diseases. Advances in genetic research have opened up new
possibilities in fields such as medicine, agriculture, and biotechnology, making it an
important area of study for improving human health and the environment. (Roberts, 2020)

Deoxyribonucleic acid (DNA) and ribonucleic acid (RNA) are central to genetics, as they
carry and translate the instructions needed for cellular function. DNA, which consists of two
strands that create a double helix structure, holds genetic information through nucleotide
sequences. These sequences serve as codes for producing proteins, responsible for executing
most bodily functions. RNA is primarily involved in translating genetic information into
proteins. Messenger RNA (mRNA) delivers the code from DNA to ribosomes, where transfer
RNA (tRNA) and ribosomal RNA (rRNA) contribute to assembling amino acids into
proteins. Combined, DNA and RNA facilitate the replication and inheritance of genetic
material while enabling protein synthesis essential for life. (Roberts, 2020)

Organizational structure of DNA and RNA.

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DNA Structure.

Figure: DNA Structure. (Thapa, 2023)

DNA is an extraordinary molecule characterized by its twisted double helix shape, much like
a spiralling ladder. This helical structure consists of two strands featuring a sugar-phosphate
backbone, while the rungs are formed by pairs of nitrogenous bases: adenine (A), thymine
(T), guanine (G), and cytosine (C). These bases follow strict pairing rules pairing rules,
adenine always bonds with thymine, while guanine pairs with cytosine. The specific sequence
in which these bases appear acts as the genetic code that contains all instructions for protein
synthesis and regulates cellular activities. In humans, DNA sequences within genes can vary
significantly in length, some encompass several thousand bases whereas others may extend
beyond a million. (Thapa, 2023)

DNA is found in nearly every cell of the body, stored within the nucleus. To efficiently
manage its considerable length, DNA winds around proteins known as histones, creating
formations called nucleosomes. This organization compacts DNA into chromosomes,

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important for maintaining proper structure and distribution of genetic information during cell
division. Humans possess 23 pairs of chromosomes, receiving one set from each parent.
These chromosomes host genes that can have different versions or alleles based on parental
inheritance contributing to diverse traits and characteristics through genetic variation. (Thapa,
2023)

RNA Structure.

Figure: RNA Structure. (Inspiredpencil.com, 2021)

Ribonucleic acid (RNA) is an essential molecule found in all living organisms and some
viruses, playing a vital role in transmitting genetic information. RNA consists of nucleotides
composed of a ribose sugar, phosphate group, and one of four nitrogenous bases, adenine (A),
guanine (G), uracil (U), or cytosine (C). Unlike DNA’s usual double-stranded form, RNA
typically exists as a single strand but can occasionally form double-stranded configurations in
certain viruses. These so-called RNA viruses use RNA to carry their genetic material and are
associated with numerous human illnesses like influenza and hepatitis C. The length and
structure variations among different RNA molecules support their wide array of functions
within cells. (Mokobi, 2020)
Transcription and translation play vital roles in RNA's involvement in gene expression.
During transcription, an RNA strand is formed using a DNA template to create a
complementary sequence necessary for the subsequent protein production stage. In

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translation, this RNA directs the synthesis of proteins within cells. This process involves
three main types of RNA: messenger RNA (mRNA), which conveys genetic information
from DNA to ribosomes; transfer RNA (tRNA), which delivers specific amino acids during
protein assembly at the ribosome; and ribosomal RNA (rRNA), which makes up part of the
ribosome structure and aids in forming peptide bonds. Additionally, various RNAs influence
gene regulation and show potential as therapeutic agents for treating human diseases.
(Mokobi, 2020)

Differences between DNA and RNA.

The main differences between DNA and RNA are in their structure and function. DNA has
two strands, includes deoxyribose sugar, and incorporates thymine as one of its nitrogenous
bases. RNA, on the other hand, is made up of a single strand, has ribose, and uses uracil
instead of thymine. DNA is responsible for permanently storing genetic information, while
RNA has a temporary nature and is involved in converting genetic information into proteins.
While DNA stays inside the nucleus of eukaryotic cells, RNA molecules are produced in the
nucleus but operate in the cytoplasm, interacting with ribosomes in protein synthesis. .
(Mokobi, 2020)

Ribosomal RNA and transfer RNA are two types of RNA that have greater chemical
reactivity and lower stability compared to DNA. DNA is a dependable genetic storage
system, while RNA is more susceptible to breakdown because of its single-stranded structure
and the presence of a hydroxyl group on its ribose sugar. RNA functions as a temporary
messenger, aiding in protein production without making permanent changes to the genetic
information. Although DNA is mainly located in the nucleus, ribosomal RNA and transfer
RNA are located in various parts of the cell, carrying out specific functions in addition to
genetic transmission. (Thapa, 2023)

Inheritance patterns for dominant and recessive diseases.

Dominant and Recessive alleles.

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 Figure: Dominant and Recessive alleles. (Yourgenome.org, 2017)

Alleles, which are gene variations, are various forms of a gene that can lead to a range of
traits or characteristics. Every individual receives a pair of alleles from their parents for each
gene, as human cells usually have a set of two chromosomes. The alleles can be alike or
different, and their combination influences the expression of a specific trait. For dominant
alleles, only one copy is necessary for the trait to show. If a person has one dominant allele
for brown eyes and one recessive allele for blue eyes, the dominant allele will be dominant
and they will have brown eyes. (University of Utah, 2000)

In contrast, recessive alleles need both copies to show their trait. If a person receives two
recessive alleles, the trait linked to those alleles will be displayed. An instance of this could
be cystic fibrosis, a disorder that arises from inheriting two recessive alleles. An individual
who has just one recessive allele won't display any signs of the illness but can still transmit
the allele to their future generations. The way dominant and recessive alleles are inherited is
governed by specific rules detailed in Mendelian genetics, impacting the transmission of
traits across generations. (University of Utah, 2000)
Beyond the basic classification of alleles as dominant or recessive, their impact on traits can
involve intricate molecular interactions. Genes produce proteins that differ in activity,
stability, and location within the body, all crucial to determining phenotype. Dominant alleles
typically result in functional proteins capable of overshadowing those produced by recessive

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alleles, which may be non-functional or only partially effective. The timing and quantity of
protein expression also influence trait manifestation; a dominant allele might ensure
sufficient production despite the presence of a recessive one. As such, dominant traits tend to
appear more frequently across generations compared to recessive ones which often skip
generations until two carriers have offspring who inherit them together adding complexity to
patterns of inheritance and expression. (University of Utah, 2000)

Sex linked genes.

Figure: Sex linked genes. (Nikitin, 2024)

Sex traits in individuals, including their genitals, hormones, and reproductive organs, are
determined by sex chromosomes, namely the X and Y chromosomes. The genes located on
these chromosomes are referred to as sex-linked genes. Compared to the larger X

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chromosome which contains more genetic material, the smaller Y chromosome lacks some of
those same genes. (Nikitin, 2024)

This means that people with the XX genotype have two copies of every gene, while those
with the XY genotype only have one copy of certain sex-linked genes. Some genetic
disorders arise from these sex-linked genes. For example, haemophilia is more common in
individuals with XY chromosomes because they need just one copy of the haemophilia gene
to be affected by it. On the other hand, individuals with XX chromosomes must inherit two
copies of this allele to exhibit symptoms of the condition. (Nikitin, 2024)

Mendelian genetics.

The laws of inheritance are crucial in understanding the transmission of diseases, particularly
single gene diseases, which are often referred to as Mendelian. Gregor Mendel observed
different patterns of gene segregation in garden peas, determining the probabilities of
recurrence of a trait for subsequent generations. To identify transmission patterns and rule out
genetic diseases especially common illnesses influenced by behaviour and environment a
precise family history is essential. (Genetic Alliance and District of Columbia Department of
Health, 2010)

Most genes have one or more versions due to mutations or polymorphisms called alleles.
Individuals may carry a 'normal' allele, 'disease' or 'rare' allele depending on the impact of the
mutation/polymorphism and the population frequency of the allele. Single-gene diseases are
typically passed down in various patterns, determined by the gene's location and whether one
or two normal copies are necessary for the disease to appear. Genetic heterogeneity is
prevalent both in single-gene disorders and complex multi-factorial conditions, leading to
differing degrees of severity and outcomes among multiple affected family members.
(Genetic Alliance and District of Columbia Department of Health, 2010)

Mendel’s laws of inheritance.

Law of dominance.

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 Figure: law of dominance.

According to the law of dominance, when an organism has two different alleles for a specific
trait, one allele is dominant over the other. In the F1 generation resulting from a monohybrid
cross, only the dominant allele manifests itself in appearance or function; meanwhile, the
recessive allele stays unexpressed or hidden. This principle explains how parental traits
appear in their offspring during such genetic crosses. (Tamang, 2023)

Law of segregation.

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 Figure: Law of segregation. (Tamang, 2023)

The Law of Segregation, also referred to as the Law of Purity of Gametes, describes how
alleles for a specific trait divide during gamete formation and are subsequently transmitted to
offspring. This law states that every individual has two alleles for each particular trait—one
from each parent. During the process of forming gametes, these alleles separate so that each
gamete contains just one allele per trait. As a result, because each gamete possesses only one
allele for any given characteristic, they are considered pure or homozygous with respect to
that feature. (Tamang, 2023)

Law of independent assortment.

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 Figure: Law of independent assortment. (Tamang, 2023)

The Law of Independent Assortment states that alleles for different traits segregate and are
inherited independently when gametes form. This implies that the inheritance of alleles for
one trait does not affect or influence the inheritance of alleles for another trait. Mendel's
dihybrid cross experiment supports this principle. (Tamang, 2023)

Dominant and recessive diseases.

Humans acquire characteristics like eye colour, hair colour, and height from their parents
through a process known as inheritance. Autosomal inheritance refers to the transmission of
traits determined by genes located on the 22 numbered non-sex chromosomes rather than on
the sex chromosomes (X and Y). Humans have a total of 46 chromosomes, with each parent
providing 23 via their egg or sperm cells. These include pairs that follow specific autosomal
inheritance patterns. This type of inheritance can be either dominant or recessive. In
autosomal dominant inheritance, only one copy of a gene variant is required for a condition to
appear in an individual, resulting in a child having a 50% chance of inheriting this variant
from an affected parent. On the other hand, autosomal recessive inheritance necessitates
receiving both copies, one from each parent for the child to express the trait or develop any
related condition. (Cleveland Clinic, 2022)
Dominant diseases.

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Huntington's disease.

Figure: Huntington's disease punnet square. (Huntington’s Disease, 2010)

Figure: Huntington's disease family tree. (Huntington’s Disease, 2010)

Huntington's disease is a neurodegenerative condition resulting from a mutation in the
Huntingtin gene (HTT) found on chromosome 4. This disorder exhibits an autosomal

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dominant pattern of inheritance, meaning only one mutated copy of the gene is needed for
symptoms to appear. Individuals carrying one mutant allele and one normal allele
(heterozygous) will still show signs of Huntington’s disease. If someone with two copies of
the mutated HTT gene (homozygous dominant genotype) mates with someone possessing
two normal alleles (homozygous recessive genotype), all their children will inherit at least
one mutant allele, consequently developing Huntington’s disease. The presence of even just
the single dominant variant consistently determines whether or not individuals manifest this
disorder over any paired recessive form. (Huntington’s Disease, 2010)

In this genetic scenario, every child born to these parents would have a 100% likelihood of
inheriting Huntington's disease because the dominant allele prevails over any recessive one.
This underscores how influential dominant alleles can be in genetic disorders such as
Huntington's. Even when only one parent is affected and carries a single dominant allele,
their offspring still has a 50% risk of inheriting the disorder. Although the severity and
progression of the disease may differ among individuals, possessing even just one copy of the
dominant HTT allele guarantees that symptoms will eventually develop, usually during
middle adulthood which results in significant cognitive, motor, and psychiatric disturbances.
(Huntington’s Disease, 2010)

Marfan syndrome.

Figure: Marfan syndrome. (All About Marfan Syndrome, 2014)

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 Figure: Marfan syndrome. (All About Marfan Syndrome, 2014)

Marfan syndrome is one of the most prevalent hereditary disorders impacting connective
tissue, occurring in approximately 1 out of every 3,000 to 5,000 people globally. This
autosomal dominant disorder stems from mutations in the FBN1 gene on chromosome 15.
The FBN1 gene produces fibrillin-1, a vital protein essential for forming elastic fibres within
connective tissues. Due to these genetic mutations, individuals with Marfan syndrome can
experience a range of physical symptoms varying from mild characteristics typical of this
condition to more serious and rapidly developing complications affecting mainly the
cardiovascular system. Major areas influenced by Marfan syndrome include bones, eyes, and
heart-related structures, common features among patients are long limbs, scoliosis, and aortic
root dilation, which can lead to life-threatening complications like aortic dissection. (Salik
and Rawla, 2019)

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Around 75% of people with Marfan syndrome receive the condition from an affected parent,
while the other 25% acquire it through a new mutation in the FBN1 gene. If one parent has
Marfan syndrome, there is a 50% probability that each child will inherit this genetic change.
Although no cure exists for Marfan syndrome, early detection and treatments such as beta-
blockers and angiotensin receptor blockers are effective in managing cardiovascular issues
and increasing life expectancy. Timely surgical procedures, particularly for addressing aortic
root dilation, can significantly improve outcomes by highlighting the importance of medical
management in slowing or preventing symptom progression. (Salik and Rawla, 2019)

Achondroplasia.

Figure: Achondroplasia family tree. (Inspiredpencil.com, 2021a)

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 Figure: Achondroplasia punnet square. (Inspiredpencil.com, 2021a)

Achondroplasia is a rare genetic disorder and the leading cause of disproportionate short
stature, commonly known as dwarfism. Identified in 1878, this condition accounts for over
90% of dwarfism cases and was differentiated from other bone growth disorders like rickets.
The name "achondroplasia" translates to "without cartilage formation," reflecting its primary
impact on the growth plates of bones. This results in abnormal development of cartilage and
bone, particularly affecting long bones. It is caused by mutations in the fibroblast growth
factor receptor 3 (FGFR3) gene, which specifically disrupts endochondral ossification the
process critical for elongating bones during growth. (McDonald and De Jesus, 2023)

Achondroplasia is inherited in an autosomal dominant manner with complete penetrance,

meaning that those who inherit the FGFR3 mutation will manifest the disorder. Notably,
more than 80% of achondroplasia cases arise from spontaneous or de novo mutations,
frequently linked to older paternal age. If one parent has achondroplasia, there is a 50%
likelihood of passing on the mutation to their child. When both parents have this condition,
there is a 25% chance their child will receive two copies of the mutated gene an outcome
typically lethal shortly after birth due to significant skeletal abnormalities and respiratory
issues. (McDonald and De Jesus, 2023)

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Achondroplasia is an uncommon genetic condition that can be identified before birth or soon
after. It features a prominent head, underdeveloped midface, short arms and legs, and hands
resembling a trident shape. Although individuals with achondroplasia typically exhibit
normal intelligence levels, the disorder does correlate with a shorter lifespan averaging 61
years which is about 10 years less than what is typical for the general population.
Complications such as spinal stenosis, obesity, and respiratory problems lead to higher
morbidity and mortality rates. Achondroplasia is caused by a point mutation in the FGFR3
gene that results in abnormal protein activation. This inhibits chondrocyte growth, leading to
shortened long bones due to affected endochondral ossification. However, bones formed
through intramembranous ossification like the skull and clavicles are usually unaffected.
(McDonald and De Jesus, 2023)

Recessive diseases.

Cystic fibrosis.

Figure: Cystic fibrosis. (Butterfly Trust, n.d.)

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 Figure: Cystic fibrosis. (Butterfly Trust, n.d.)

Cystic fibrosis (CF) is a genetic disorder primarily affecting the lungs and pancreas, where
thick, sticky mucus accumulates, leading to respiratory difficulties, frequent lung infections,
and issues with digestion. The underlying cause of CF is a mutation in the CFTR (cystic
fibrosis transmembrane conductance regulator) gene, which disrupts the normal movement of
salt and water across cells. This leads to the accumulation of mucus in different organs,
particularly in the airways and digestive system, causing a decrease in their functionality.
People with CF suffer from ongoing respiratory infections, breathing issues, and malnutrition
caused by inadequate nutrient absorption. (Sharma and cutting, 2020)

Cystic fibrosis is inherited in an autosomal recessive manner, requiring both parents to pass
on a mutated CFTR gene for the disease to visible. If a child receives one mutated gene and
one normal gene, they will be a carrier of CF. Carriers often do not exhibit all symptoms but
might suffer from mild health problems that are connected. It is crucial to note that carriers
have the ability to transfer the mutated gene to their children, if both parents are carriers, their
child has a 25% likelihood of receiving both mutated genes and developing cystic fibrosis.
(Sharma and cutting, 2020)

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Sickle cell disease.

Figure: Sickle cell disease punnet square. (HealthyChildren.org, n.d.)

Figure: Sickle cell disease. (HealthyChildren.org, n.d.)

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Sickle cell disease is a hereditary condition commonly seen in people of African origin. It is
caused by changes in one of the genes that make haemoglobin, and is inherited as an
autosomal recessive characteristic. These changes result in red blood cells taking on an
unusual sickle form. Individuals with sickle cell disease experience ongoing anaemia and
significant damage to their heart, lungs, and kidneys. (HealthyChildren.org, n.d.)

Babies are born with SCD by inheriting one haemoglobin gene from each parent. The normal
haemoglobin gene is A. Mutations in the haemoglobin gene result in S (sickle) or C
haemoglobin. The most common type of SCD is SS (inheriting S from both parents).SC is a
less common type of SCD (S from one parent, C from the other). Other types of SCD include
Sbeta zero thalassemia (no A haemoglobin) and Sbeta+thalassemia (very little A
haemoglobin). Different mutated combinations involving the S gene cause sickle cell disease.
(HealthyChildren.org, n.d.)

Predicting outcomes of genetic crosses by using punnet square.

A Punnett square is a visual tool used to illustrate the potential genotypes of offspring
resulting from a specific cross or breeding event. To construct a Punnett square, it's essential
to know the genetic makeup of the parents. The different possible combinations of their
gametes are displayed in a table format, with each cell representing an individual fertilization
event. (BD Editors, 2016)

The fundamental assumption is that each trait is controlled by a single gene locus and that
different traits assort independently. While this holds true for many valuable traits,
particularly in the selection of characteristics for plant or animal breeding, there are numerous
exceptions to this rule. (BD Editors, 2016)

This tool was developed in the twentieth century, long after Mendel's ground-breaking
experiments on genetics. Nonetheless, it is now frequently used to explain the outcomes of
Mendel's work, particularly when integrated with our modern understanding of DNA, genes,
and chromosomes. (BD Editors, 2016)

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Types of punnet squares.

There are two main types of Punnett squares that are frequently used. The first type applies
when observing a single trait governed by one genetic locus, known as a monohybrid cross.
This approach was used in some of Mendel's initial experiments, where he crossed true-
breeding plants for a particular trait with others carrying an alternate allele. In the case of
monohybrid crosses, these diagrams take the form of 2X2 grids containing four boxes; each
box represents one possible fertilization event between parent gametes. (BD Editors, 2016)

The second type is utilized to forecast the results of breeding experiments tracking two traits,
resulting in a larger Punnett square containing sixteen boxes. This 4x4 grid is essential
because each parent can generate four different types of gametes, depending on how the
alleles from both genes are distributed. (BD Editors, 2016)

When observing more than two traits, a Punnett square becomes cumbersome, and alternative
tools are utilized to predict the outcomes of these crosses. (BD Editors, 2016)

Genotype and Phenotype.

Figure: Genotype and Phenotype. (Helmenstine, 2021)

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Genotype.
A phenotype encompasses the visible physical characteristics or traits of an organism,
including aspects like appearance, behaviour, and biochemical properties. These traits result
from the interaction of the organism's genotype with its environment. Examples of
phenotypes include hair colour, height, and blood type. (Helmenstine, 2021)

Phenotype.
The genotype refers to the genetic composition of an organism, which includes the specific
set of alleles it receives from its parents. It encapsulates the foundational genetic code that
influences potential traits or characteristics; however, not all these traits are expressed in the
phenotype. For any given gene, genotypes can be either homozygous (with identical alleles)
or heterozygous (with different alleles). (Helmenstine, 2021)

Homozygous and Heterozygous.

Figure: Homozygous and Heterozygous. (Helmenstine, 2021)

An organism is homozygous when it has two identical alleles for a specific gene, either both
dominant or both recessive. This results in consistent expression of a particular trait.
An organism is heterozygous when it has two different alleles for a specific gene, one
dominant and one recessive. The dominant allele typically determines the trait expressed.
(Helmenstine, 2021)

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Mendel’s experiment.

Between 1856 and 1863, Gregor Mendel carried out breeding experiments with pea plants to
examine inheritance patterns. He selected these plants for their numerous advantages. They
came in various varieties, could self-pollinate, had short life cycles, were easy to cultivate,
and exhibited distinct traits. Mendel concentrated on seven specific characteristics of the pea
plants, seed shape and colour; flower colour, pod shape and colour, flower position and stem
height to conduct his studies. (Tamang, 2023)

Monohybrid cross.

Figure: Monohybrid cross. (Tamang, 2023)

Mendel's monohybrid cross study focused on the inheritance of a single trait in pea plants. He
conducted crosses between plants with different traits, such as tallness and dwarfness, and
observed their inheritance patterns. In the first filial generation (F1), all plants showed the
dominant trait (tallness: TT), while the recessive trait (dwarfness:tt) was absent. This pattern
was consistent across all traits studied. When F1 plants were crossed among themselves, the
second filial generation (F2) showed a 3:1 ratio of dominant and recessive traits, which was
not observed in the F1 generation. (Tamang, 2023)

30
Homozygous parents.

Figure: homozygous parents. (Istockphoto.com, 2024)

In the context of homozygous parents, a monohybrid cross involves mating two individuals
that possess identical alleles for a particular trait. For instance, if both parents are
homozygous with dominant alleles (AA), all their offspring will exhibit the dominant trait
(AA). Conversely, when both parents are homozygous recessive (aa), all offspring will
display the recessive trait (aa). In these scenarios, the offspring show uniform genotypes and
phenotypes without any variation in expressed traits. Such crosses demonstrate a clear
inheritance pattern where each parent consistently passes on one allele. (BD Editors, 2017)

31
Heterozygous parents.

Figure: Heterozygous parents. (Istockphoto.com, 2024)

When two heterozygous parents (Aa) are involved in a monohybrid cross, they pass on both
dominant and recessive alleles to their offspring. This results in a phenotypic ratio of 3:1
among the offspring. According to the Punnett square analysis, 25% of the offspring will be
homozygous dominant (AA), another 50% will be heterozygous (Aa), and the remaining 25%
will be homozygous recessive (aa). Consequently, we observe that the dominant trait
manifests in 75% of these individuals while only 25% exhibit the recessive trait. This genetic
crossing demonstrates how variation arises through inheritance patterns involving both types
of alleles. (BD Editors, 2017)

32
Homozygous and heterozygous parents.

Figure: Homozygous dominant and

Figure: Homozygous recessive and
heterozygous parents.
heterozygous parents.
(Istockphoto.com, 2024)
(Istockphoto.com,2024)

When considering homozygous and heterozygous parents in a monohybrid cross, the

outcomes based on whether the homozygous parent is dominant or recessive. In a cross
between a dominant homozygous parent (AA) and a heterozygous parent (Aa), all offspring
will display the dominant trait, with half being homozygous dominant (AA) and half being
heterozygous (Aa). Conversely, if the homozygous parent is recessive (aa), then 50% of their
offspring will be heterozygotes (Aa) showing the dominant phenotype meanwhile, the other
50% will be homozygous recessive (aa) and express the recessive phenotype. (BD Editors,
2017)

33
Dihybrid cross.

Figure: Dihybrid cross. (Tamang, 2023)

In his dihybrid cross experiments, Mendel examined how two distinct traits were inherited
simultaneously. He began by crossing purebred parent plants that displayed different
characteristics. For instance, he crossed plants possessing yellow and round seeds (YYRR)
with those having green and wrinkled seeds (yyrr). In the F1 generation, only the dominant
traits of yellow and round seeds were observed. However, in the F2 generation, both parental
traits emerged in four different combinations with a phenotypic ratio of about 9:3:3:1. This
demonstrated that the two traits assorted independently. (Tamang, 2023)

34
Function of punnet square.

In large-scale experiments like Mendel's, Punnett squares are effective tools for predicting the
ratios of observable traits and their genetic composition. For example, when a true-breeding
tall pea plant is cross-fertilized with pollen from a true-breeding short pea plant, using a
Punnett square reveal that all offspring will be tall and heterozygous, carrying both alleles for
height. If these heterozygous plants self-fertilize, approximately 75% of the next generation
will be tall while about 25% will be short; among the tall plants, one-third will remain
purebred whereas two-thirds become heterozygous. Plant and animal breeders use this
method to select specimens in order to produce desired trait outcomes in future generations.
(BD Editors, 2016)

Genetic counselling also uses them to assist couples in making informed decisions about
having children. For instance, if both parents are carriers of an autosomal recessive disease
like cystic fibrosis, their child has a twenty-five percent chance of developing the illness and
a fifty-percent likelihood of being a carrier. However, if one parent is affected by the disease
while the other neither carries nor suffers from it, they can be assured that their child will not
develop cystic fibrosis since she would carry only one copy of the abnormal gene. (BD
Editors, 2016)

Review of complex information (including pedigrees) for sex-

linked disorders.

Fundamental concepts of inheritance are essential for understanding how traits and genetic
conditions are transmitted from one generation to another. A comprehensive family health
history can illustrate these patterns and monitor conditions over time. Every individual
possesses two copies of nearly every gene, with one inherited from each parent. Researchers
have analysed human genes to investigate their normal roles as well as the impact that
changes in these genes might have on those functions. Certain genetic changes, known as
gene variants or single nucleotide polymorphisms (SNPs), are typically harmless and do not
significantly alter a gene's function. (Britannica, 2019)

35
However, mutations can profoundly impact gene function and potentially lead to diseases.
These changes in the DNA sequence may disrupt protein production or functionality, which
are vital for normal biological operations. Some mutations are passed down through
generations, while others arise spontaneously. If a mutation affects a critical gene important
for development or health, it can result in genetic disorders. Such changes might enhance,
reduce, or entirely impair a gene's activity, causing different symptoms or medical conditions
based on the specific role of that gene within the body. (Britannica, 2019)

The impact of X-Linked Inheritance on genetic disorders.

Figure: X-Linked inheritance. (National Foundation for Ectodermal Dysplasias, n.d.)

36
Genetic disorders caused by mutations in a single gene are categorized according to the
inheritance pattern of the mutated gene. There are four primary types of these patterns:
autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive. In
autosomal dominant disorders, only one copy of the mutated gene is necessary for the
condition to visible. Meanwhile, both copies must be altered for an individual to develop an
autosomal recessive disorder. Mutations located on genes within the X chromosome define
X-linked inheritance, here males and females may experience differing effects due to their
distinct numbers of X chromosomes. Dominant mutations are expressed even with one copy
of the gene, while recessive mutations need two mutated copies to manifest symptoms.
(National Foundation for Ectodermal Dysplasias, n.d.)

Inheritance patterns associated with sex chromosomes, specifically the X and Y

chromosomes, display unique characteristics compared to those of autosomal chromosomes
(1-22). Females have two X chromosomes (XX), which means they possess two copies of
each gene located on the X chromosome. In contrast, males have one X and one Y
chromosome (XY), giving them only a single copy of genes found on the X chromosome
along with their distinctive set of Y-linked genes. Because males lack a second X
chromosome, any mutations present on their X chromosome can directly result in phenotypic
traits. This exposes the significant role that the X chromosome plays in male genetic health.
(National Foundation for Ectodermal Dysplasias, n.d.)

X-linked disorders arise from mutations in genes located on the X chromosome and can
appear as either dominant or recessive traits. In males, who have only one X chromosome, a
single mutated gene is sufficient to cause the disorder, irrespective of whether it follows a
dominant or recessive pattern. Conversely, females generally need both of their X
chromosomes to carry the mutation for an X-linked recessive disorder to manifest symptoms.
As a result, family histories often show that males exhibit these conditions while females are
carriers without displaying any signs because they have one normal copy of the gene
compensating for its mutated one. (National Foundation for Ectodermal Dysplasias, n.d.)

37
For X-linked dominant conditions, a single mutated gene copy is sufficient for both males
and females to exhibit the disease phenotype. Families impacted by these disorders typically
have affected individuals of both genders across generations, showcasing the influence of just
one mutated gene. An important feature of X-linked inheritance is that fathers cannot transmit
their X-linked traits to sons because they pass on only the Y chromosome to male offspring.
However, daughters inherit an X chromosome from their father, making it possible for
mothers to transmit X-linked genes to all children, allowing both sons and daughters to
potentially inherit these traits from their mother. (Frost, 2022)

In X-linked inheritance, traits are influenced by genes situated on the X chromosome found
in both males and females. With this pattern of inheritance, dominant genes require only one
copy to manifest their associated characteristics. However, recessive traits necessitate two
copies for expression, thus, these traits appear more frequently in males since they have just
one X chromosome. In contrast, females need both of their X chromosomes to carry the
recessive gene in order to display its effects. (Frost, 2022)

A father with a mutation on his X chromosome can transmit this altered gene to his
daughters, making them carriers of the mutation. However, his sons remain unaffected
because they receive their X chromosome from their mother. Examples of X-linked recessive
disorders are red-green colour blindness and haemophilia A, which highlight how such traits
are inherited through the X chromosome differently in males and females. In contrast, Rett
syndrome is an example of an X-linked dominant disorder primarily affecting females, it
leads to severe brain development problems that cause various mental and physical
disabilities. (Frost, 2022)

38
Red-Green colour blindness.

Figure: Red-Green colour blindness punnet square. (Sliderbase.com, 2024)

Figure: Red-Green colour blindness. (Sliderbase.com, 2024)

39
 Figure: Red-Green colour blindness pedigree chart. (Sliderbase.com, 2024)

Red-green colour blindness is the most prevalent type of colour deficiency in humans. It
occurs when individuals are unable to perceive shades of red and green in the same way that
those with normal colour vision do. The majority of people perceive colour similarly. Our
eyes detect light at specific wavelengths, which the brain then processes into shades of red,
green, and blue. However, some individuals have difficulty distinguishing between red and
green colours or cannot see them altogether. Apart from this difference in colour perception,
their vision functions largely like everyone else’s. Approximately 8% of men and 0.5% of
women globally experience challenges with accurate colour perception, primarily related to
red-green distinctions. Given that perceiving reds and greens is typically inherent for humans,
difficulties in this area raise numerous questions. (Mangan, 2021)

40
The human eye can perceive three primary colours; red, green, and blue. This is made
possible by specialized photoreceptor cells in the retina known as cones, which detect these
hues and relay signals to the brain that are interpreted as colour vision. There are four
common methods of describing this perception of colour,

 Trichromatic – The ability to perceive all three primary colours (normal vision).
 Dichromatic – The ability to perceive two colours but not the third.
 Anomalous trichromatic – Experiencing colour vision through three channels, but
with deficiencies in perceiving red, green, or blue.
 Monochromatic- Lacking the ability to perceive colours. (Mangan, 2021)

Some individuals are born without cones to detect red or green, while others have a limited
number. A few people experience blue-yellow colour blindness, and an extremely small
group perceives the world entirely in black and white.

The majority of individuals with red-green colour-blindness inherit the condition from their
parents. Due to genetic transmission differences between genders, men are significantly more
likely than women to be affected by this condition. Basically, genes are passed from parent to
offspring von chromosomes. In humans, the sex-determining chromosomes are known as "X"
and "Y." Males possess one X chromosome and one Y chromosome (XY), whereas females
have two X chromosomes (XX). Red-green colour blindness is linked to the X chromosome.
As a result, males are more likely to experience this condition because, Boys receive their
sole X chromosome from their mothers. If this chromosome carries the genes responsible for
red-green colour deficiencies, they will inherit the condition. (Mangan, 2021)

Girls inherit their two X chromosomes from both parents, meaning they receive one X
chromosome from each. To pass on the genes for red-green colour blindness to their
daughters, both Mom and Dad must carry these genes. As a result, girls are much less likely
to be born with this deficiency compared to boys. The genes responsible for other types of
colour blindness, such as blue-yellow and complete colour blindness, are located on different
chromosomes. As a result, both women and men experience these forms at similar rates.
(Mangan, 2021)

41
Red-green colour deficiencies are categorized into four types, determined by the extent to
which individuals perceive each colour.

 Protanopia (red-blindness) – Red is not visible.

 Green-blind (deuteranopia) – Unable to perceive the colour green.
 Red-weak (protanomaly) — Some red colours are visible, while green and blue
appear normal.
 Green-weak (deuteranomaly) – Some green shades can be seen, while red and blue
appear normal. (Mangan, 2021)

Haemophilia.

Figure: Haemophilia. (www.edrawmax.com, n.d.)

42
 Figure: Haemophilia pedigree chart. (www.edrawmax.com, n.d.)

Haemophilia is a lifelong genetic disorder that affects the blood's ability to clot properly,
which can make even minor injuries life-threatening without treatment. This condition is
caused by a deficiency in clotting factors, specifically factor VIII (8) or factor IX (9). These
clotting factors are proteins in the blood that help control bleeding. When a person with
haemophilia sustains an injury, their body struggles to form clots, leading to prolonged
bleeding. Treatment typically involves replacing the missing clotting factors to prevent
excessive bleeding episodes and minimize long-term damage. (Haemophilia Foundation
Australia, n.d.)

Although haemophilia mainly impacts males, females can also be carriers of the gene causing
the condition. While most female carriers do not show symptoms of a bleeding disorder,
about 20–30% have reduced clotting factor levels and may present with mild haemophilia.
Previously known as "symptomatic carriers," these women are now correctly diagnosed if
their clotting factor levels align with those seen in mild haemophilia cases. In rare instances,
some females possess especially low factor levels, resulting in moderate or severe
haemophilia to that experienced by affected males. (Haemophilia Foundation Australia, n.d.)

43
Haemophilia is a genetic condition that can be inherited within families. However, about one-
third of cases result from spontaneous genetic mutations. This disorder stems from a gene
alteration located on the X chromosome. Men with haemophilia transmit this altered gene to
their daughters, who become carriers but do not pass it to their sons. Women carrying the
altered gene can transfer it to both their sons and daughters, sons receiving this gene will
develop haemophilia, whereas daughters usually carry the gene without symptoms but may
have reduced factor levels or mild forms of haemophilia themselves. (Haemophilia
Foundation Australia, n.d.)

Haemophilia is classified into two main types, depending on which clotting factor is
deficient.

 Haemophilia A is caused by a lack of factor VIII (8).

 Haemophilia B results from a deficiency of factor IX (9).

The severity of the condition is determined by the level of clotting factor present in the blood.

 Mild haemophilia occurs when factor levels are between 5-40%.

 Moderate haemophilia occurs when levels range from 1-5%.
 Severe haemophilia is diagnosed when factor levels are below 1%.

The severity influences how frequently a person may experience bleeding episodes and the
intensity of the treatment required. (Haemophilia Foundation Australia, n.d.)

44
X-linked hypophosphatemia (XLH).

Figure: X-linked hypophosphatemia (XLH). (XLH Link, 2016)

Figure: X-linked hypophosphatemia (XLH). (XLH Link, 2016)

45
X-Linked Hypophosphatemia (XLH) is a genetic disorder inherited in an X-linked dominant
manner, primarily impacting bone development. It leads to rickets or osteomalacia that does
not respond to standard vitamin D treatments. The condition arises from a mutation in the
PHEX gene on the X chromosome (Xp22), which leads excessive production of fibroblast
growth factor 23 (FGF23). This heightened level of FGF23 prompts the kidneys to expel too
much phosphate, resulting in hypophosphatemia. Consequently, normal mineralization of
bones and teeth is impaired, causing symptoms such as short stature, bone deformities like
bow-leggedness, and weakened dental structure. (Park and Kang, 2023)

The underlying mechanism of XLH involves both renal phosphate wasting and local
accumulation of mineralization inhibitors, such as osteopontin. The PHEX gene normally
helps control these inhibitors, but in XLH, the mutation reduces the PHEX protein's function,
leading to blocked bone and tooth mineralization. In addition, the elevated FGF23 levels
lower phosphate levels and impair vitamin D production, exacerbating bone softening
(osteomalacia) and tooth defects (odontomalacia). (Park and Kang, 2023)

XLH is inherited in an X-linked dominant disorder, meaning it can be passed from parent to
child through the X chromosome. Males with XLH typically experience more severe
symptoms since they possess only one X chromosome. Females have two copies of this
chromosome and tend to show milder effects. An affected male will transmit the mutation to
all his daughters but not to any sons. Meanwhile, an affected female has a 50% chance of
passing on the disorder to each offspring, regardless of whether they are male or female.
(Park and Kang, 2023)

46
Epistasis and its manifestation in phenotypes.

Figure: Epistasis. (Lumen, 2019)

Epistasis describes the interaction between genes where one gene can influence or hide the
expression of another, often situated at a different locus. This means that the physical trait
produced by alleles in one gene may change based on which alleles are present in another
gene. Unlike simple dominance and recessiveness, which occur among alleles within a single
locus, epistasis involves interactions across separate loci. For instance, while one gene may
determine pigmentation itself, another might affect how much pigment is distributed or its
patterning, resulting in complex phenotypic characteristics. (Lumen, 2019)

47
Mendel's principles proposed that traits are determined by individual genes, with each trait
associated with a single gene. However, real-life genetics reveals more complex inheritance
patterns where multiple genes influence a single phenotype. Traits such as skin colour,
height, and eye colour in humans arise from the interaction of various genes impacting the
phenotype collectively. For instance, human eye colour is determined by at least eight
different genes; variations in melanin production and distribution lead to shades ranging from
blue to brown. (Lumen, 2019)

Epistasis can occur in biological processes even when there are no direct interactions between
gene products. For example, during the formation of complex organs such as the heart or
brain, genes may be activated in a sequence that contributes to various developmental stages.
These genes may not directly interact, but their coordinated timing is essential for organ
formation. Furthermore, some genes act together in a synergistic manner, requiring
simultaneous activation to produce a specific phenotype, while others might work the
opposite, where one gene downregulates or suppresses the function of another. (Lumen,
2019)

In mice, the concept of epistasis is illustrated through their pigmentation patterns. The
dominant wild-type coat colour, agouti (AA), masks the recessive solid-coloured fur (aa).
However, pigment production depends on another gene designated as C. If a mouse possesses
two recessive alleles at this locus (cc), it will be unable to produce any pigment and will
appear albino regardless of its genotype at the A locus. Therefore, genotypes such as AAcc,
Aacc, and aacc all result in an albino appearance. When heterozygotes for both genes are
crossed (AaCc x AaCc), their offspring display a phenotypic ratio of 9 with agouti coats:3
with solid colors:4 that are albino. In this case; the C gene exhibits an epistatic effect over the
A gene. (Lumen, 2019)

48
Dominant epistasis.

Figure: Dominant epistasis. (Nickle and Barrette, 2016)

Dominant epistasis occurs when a dominant allele at one gene locus masks or suppresses the
expression of alleles at another locus, regardless of whether those are dominant or recessive.
This interaction leads to a characteristic segregation ratio, such as 12:3:1, where the presence
of a dominant allele at the first locus obstructs any phenotypic expression from the second
gene. An example of this is seen in the fruit colour of certain squash varieties. In these cases,
a dominant allele (A) at one locus inhibits pigment production, resulting in white fruit,
regardless of whether the second gene (B) would have produced yellow or green pigment.
This suggests that the A allele blocks an early step in the pigment synthesis pathway,
preventing the formation of any colour. (Nickle and Barrette, 2016)

49
Recessive epistasis.

Figure: Recessive epistasis. (Nickle and Barrette, 2016)

Recessive epistasis happens when two recessive alleles at one gene locus prevent the
expression of alleles at another locus. This leads to a changed phenotypic ratio, such as 9:3:4,
rather than the expected 9:3:3:1 in dihybrid crosses. Here, the double homozygous recessive
genotype (aabb) displays the same phenotype as one of those with only a single set of
homozygous recessives (A_ bb or aaB_). A classic example involves Labrador Retrievers;
their B locus dictates pigment colour either black or brown and their E locus manages how
that pigment is deposited. Dogs possessing an ee genotype do not deposit any pigment and
thus have pale yellow coats regardless if they are genetically predisposed for black (B_) or
brown fur (bb). (Nickle and Barrette, 2016)

50
Dominant inhibitory epistasis.

Figure: Dominant inhibitory epistasis. (Mondal, 2016)

In this form of epistasis, a dominant allele at one locus can conceal the expression of alleles
both dominant and recessive at another locus. This is referred to as inhibitory gene
interaction. A notable example of such gene interaction occurs in anthocyanin pigmentation
in rice. (Mondal, 2016)

The gene I, which is dominant over the purple colour gene, governs the green colour of
plants. On the other hand, a separate dominant gene P controls purple coloration. When
crossbreeding occurred between green (IIpp) and purple (iiPP) plants, all F1 offspring were
green in appearance. Subsequent intercrossing of these F1 offspring resulted in an F2
generation comprising both green and purple plants at a ratio of 13:3. (Mondal, 2016)

In this scenario, allele I is epistatic to alleles P and p. Therefore, in the F2 generation, Plants
with genotypes I-P- (9/16), I-pp (3/16), and iipp (1/16) will exhibit a green coloration because
allele I masks the effects of both P and p. - On the other hand, plants with genotype iiP-(3/16)
will be purple since allele I is absent. In this scenario, the typical dihybrid segregation ratio of
9:3:3:1 is altered to a 13:3 ratio. A comparable gene interaction occurs in traits such as grain
colour in maize, plumage colour in poultry, and specific characteristics in other crop species.
(Mondal, 2016)

51
Duplicate recessive epistasis.

Figure: Duplicate recessive epistasis. (Mondal, 2016)

When recessive alleles at either of two loci can conceal the presence of dominant alleles at
both loci, this phenomenon is referred to as duplicate recessive epistasis or complementary
epistasis. A classic example of this occurs in the flower colour of sweet peas. The purple
colour of sweet pea flowers is controlled by two dominant genes, referred to as A and B. If
these genes are present in separate individuals (such as AAbb or aaBB) or if they appear in
their recessive form (aabb), the resulting flower is white. (Mondal, 2016)

A cross between purple flower strain (genotype AABB) and white flower strain (genotype
aabb) resulted in F1 offspring with purple flowers. When these F1 plants were inter-mated,
the resulting F2 generation displayed both purple and white flowers in a 9:7 ratio, this
phenomenon can be explained by considering the genetic interactions involved. (Mondal,
2016)

In this scenario, the recessive allele 'a' is epistatic to the B/b alleles and suppresses their
expression. Similarly, another recessive allele 'b' is epistatic to A/a alleles and conceals their
expression as well. (Mondal, 2016)

52
In the F2 generation, plants with A-B- genotypes (9/16) will exhibit purple flowers.
Meanwhile, those with aaB-, A-bb- (both 3/16), and aabb (1/16) genotypes produce white
flowers. Consequently, this results in only two phenotypic classes: purple and white. The
typical dihybrid segregation ratio of 9: 3: 3: 1 is thus altered to a ratio of 9:7 in the F2
generation. (Mondal, 2016)

Duplicate dominant epistasis.

Figure: Duplicate dominant epistasis. (Mondal, 2016)

Duplicate dominant epistasis happens when a dominant allele at one of two genetic loci can
prevent the manifestation of recessive alleles at both loci. This occurrence is also commonly
referred to as gene duplication. An example of duplicate dominant epistasis is shown by the
awn trait in rice. A pair of dominant duplicate genes (A and B) regulate awn growth in rice.
(Mondal, 2016)

Having one of the two alleles can result in the production of awn. When both genes are in a
homozygous recessive state (aabb), awns are not present. Crossbreeding different strains with
and without awns produced plants with awns in the initial generation. The second generation
of plants resulting from the crossbreeding of first-generation plants showed a ratio of 15:1 for
plants with and without awns. (Mondal, 2016)

53
Allele A is dominant over alleles B/b and causes awns to develop in all plants with allele A.
The dominant allele B regulates alleles A/a in an epistatic way. People with this specific
allele will also show characteristics of awns. Thus, F2 plants will show awn growth with
genotypes A-B-(9/16), A-bb-(3/16), and aaB-(3/16). (Mondal, 2016)

A genotype with two recessive alleles (aabb) will only show the absence of awns at a
frequency of 1/16. This results in only two types of plants being generated, changing the
typical 9:3:3:1 dihybrid ratio to 15:1 in the F2 generation. Similar genetic behaviour is seen
in both the nodulation process in peanuts and the non-floatation characteristic in rice.
(Mondal, 2016)

Polymeric gene interaction.

Figure: Polymeric gene interaction. (Mondal, 2016)

54
Two dominant alleles exhibit a similar impact when apart, but show an increased impact
when combined. Polymeric gene interaction is the term used to describe this type of gene
interaction. The combined impact of two alleles seems to be additive or cumulative, however,
both genes exhibit complete dominance, so they are not considered additive genes. If there is
an additive effect, genes demonstrate a lack of dominance. (Mondal, 2016)

An established instance of polymeric gene interaction is the shape of fruit in summer squash.
This plant has three different types of fruit shapes: disc, spherical, and long. Two dominant
genes (A and B) govern the disc shape, either dominant allele (A or B) results in a spherical
shape, and long shaped fruits are produced in plants with double recessive alleles (aabb).
(Mondal, 2016)

A combination of disc-shaped (AABB) and elongated (aabb) strains resulted in disc-shaped

fruits in the F1 generation. Crossing F1 plants resulted in F2 plants with fruits in disc,
spherical, and long shapes in a ratio of 9: 6: 1. (Mondal, 2016)

In this scenario, plants with specific genetic combinations yield different shapes of fruits -
disc, sphere, or long. Therefore, in F2, the typical dihybrid segregation ratio of 9:3:3:1
change to a ratio of 9:6:1. The same gene activity is also observed in barley when it comes to
awn length. (Mondal, 2016)

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