Molecular Cell

Biology and Applied

Genetics

Student Name - K.R.G.M.Weerasingha

Student Id - KD/HNDBDS/05/13
Assignment type - Individual Assignment
Module Name - Molecular Cell Biology and Applied Genetics
Assessor - Ms. Tharangika Bowange
 Assignment Cover Sheet

Qualification Module Number and Title

HND in Biomedical Science BMS 4006

Molecular Cell Biology
& Applied Genetics
Student name & No Assessor
K.D.R.G.M.Weerasingha Ms. Tharangika Bowange
KD/HNDBDS/05/13

Hand out date Submission data

15/10/2020 29/10/2020

Assessment type: Duration / Length Weighting of assignment

Essay of Assessment 30%
Types
3000 words

Learning declaration

I, …………………..., certify that the work submitted for this assignment in my own and
research sources are fully acknowledged.

Marks Awarded

First assessor
Second assessor
Agreed grade
Signature of the assessor Date

Signature of the assessor Date

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Feedback Form

INTERNATIONAL COLLEGE OF BUSINESS AND TECHNOLOGY

Module Name : Molecular Cell Biology & Applied Genetics

Student : K.D.R.G.M.Weerasingha
Assessor 1 :
Assessor 2 :
Assignment : Explain the role of mutation and genetic drift and molecular
biology approaches in forensic sciences and drug development.

Areas for improvement:

Strong features of your work:

Marks Awarded:

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 Individual Report

Learning outcomes covered

LO 3 - Relate mutation and changes in gene frequencies result in changes in populations.
LO 6 - Describe a variety of molecular biology techniques and their application to
industry, agriculture and the medical profession.

Scenario and the Tasks

Evolution can be defined as the change in allele frequencies in a population. A population is a

group of freely interbreeding individuals. Alleles are different forms of the same gene. The
collection of all the alleles of all of the genes found within a freely interbreeding population
is known as the gene pool of the population. Each member of the population receives its
alleles from other members of the gene pool (its parents) and passes them to the next
generation gene pool (its offspring). Population genetics is the study of the variation in alleles
and genotypes within the gene pool, and how this variation changes from one generation to
the next over space and time.

Factors influencing the genetic diversity within a gene pool include population size,
mutation, genetic drift, natural selection, environmental diversity, migration and non-random
mating patterns. The Hardy-Weinberg model describes and predicts a balanced equilibrium in
the frequencies of alleles and genotypes within a freely interbreeding population. In natural
populations, however, the genetic composition of a population's gene pool may change over
time via mutations, genetic drift, gene flow and natural selection.

Molecular biology techniques are used to analyze biological markers in the genome and
proteome. It has a major impact on forensic sciences and clinical medicine by investigating
the genetic components of suspected body tissues and disease and evaluating the future risk
of disease. Further, the molecular biology approaches in genetically modified organisms in
the production of medicines and vaccines greatly helped in the treatment of diseases.

This assignment is designed to assess the understanding of how the frequencies of alleles and
genotypes change over time in the human evolution and to assess the understanding on
genetic approaches in various disciplines of clinical diagnostics and the ethical issues
encountered in clinical diagnostics. Your report should cover all tasks listed below with a
minimum of 2500 and maximum 3000 word count.

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Task 01 (LO 03)

1. Explain the role of mutation and the effect of genetic drift in evolution using a selected
example of your choice. (30 marks)

Task 02 (LO 06)

1. Explain the molecular genetics and its application in forensic Sciences (30 marks)

2. Illustrate molecular farming for new drugs (30 marks)

Referencing and formatting (10 marks)

 Assessment Criteria

Task/ An excellent Very good Good answer Poor answer Very poor
Question answer answer answer
Task 01 30 -25 24-20 19-10 09-05 04-00
Excellently Demonstrated a Fair attempt to Poor attempt to A very poor
explained role very good explain the role of identify and answer.
of mutation understanding mutation and the explain the role
and the effect role of mutation effect of genetic of mutation and
of genetic drift and the effect of drift in evolution the effect of
in evolution genetic drift in using a selected genetic drift in
using a evolution using a example evolution using
selected selected example a selected
example example
Task 02 30-25 24-20 19-10 09-05 04-00
1. Excellently Very good Good attempt to Poor attempt to Inappropriat
Described the attempt to describe the describe the e answers.
molecular described the molecular genetics molecular
genetics and its molecular and its application genetics and its
application in genetics and its in forensic application in
forensic application in Sciences forensic
Sciences forensic Sciences Sciences
30-32 24-20 19-10 09-05 04 -00
2. Excellently Very good Good attempt to Poor attempt to A very poor
described the attempt to describe the describe the attempt
molecular describe the molecular farming molecular
farming for molecular for new drugs farming for new
new drugs farming for new drugs
drugs
Referencing 10 -09 08–07 06–05 04–03 02–00
and Excellent Very good Good referencing Poor attempt on A very poor
formatting Referencing referencing and and formatting referencing and attempt
and formatting formatting formatting
Marks obtained by the student

Marks obtained by
Total marks
Task Question Number the student for the
Allocated
answer provided
01 1 30

02 1 30
2 30

Referencing and
10
formatting
Total 100

Submission Guidelines

 Submission format: Report

 Paper Size: A4
 Words: 3000 words
 Printing Margins: LHS; RHS: 1 Inch
 Binding Margin: ½ Inch
 Header and Footer: 1 Inch
 Basic Font Size: 12
 Line Spacing: 1.5
 Font Style: Times New Roman
 Referencing should be done strictly using Harvard system

Table of contents
Table of figures ……………………………………………………………………………....8
Introduction ………………………………………………...………………………………...9
Acknowledgment………………………………………………………………………..…..10
Task 1 …………………………………………………………………………………….....11
Task 2
Question 1 …………………………………………………………………………...13
Question 2 ………………………………………………………………………….. 16
Conclusion………………………………………………………………………………...…18
Reference…………………………………………………………………………..…...……19

Table of figures

Figures 1 - The process of plant molecular farming ……………………………………….16

 Introduction

Evolution can be defined as the change in allele frequencies in a population. Many factors
can be cased for evolution. however, only five factors alter the proportion of homozygotes
and heterozygotes enough to produce significant deviations from the proportion predicted by
Hardy-Weinberg principles. They are Mutation, Gene flow, Non-random mating, genetic

drift, and Natural selection. Mutations are the heritable changes in DNA molecules. Genetic
drift is a mechanism of evolution.

Molecular genetics is the subject that studies the molecular structure of DNA, its cellular
activity, and its effect on determining the overall appearance of an organism. At present
molecular genetics applications are used for a lot of fields. Medical Diagnosis and
Treatments, forensic science, etc. Molecular genetic applications are used for forensic
identification most of the time at the present. Identification of criminals.

Molecular farming is the production of transgenic plants and other bio-reactors to produce
pharmaceutical substances. It is also known as biopharming. Chemical and microbial
medicines are being used more at present but plants are used for medicinal purposes for
thousands of years. Recombinant DNA technology in higher plants has opened up a new field
of basic research and application in botany.
 Acknowledgment

I would like to give my thanks to Ms. Tharangika Bowange and all of my friends specially
nimanth and roshan, for giving all the help to make this assignment.
Task 01

1. Explain the role of mutation and the effect of genetic drift in evolution using a selected
Example of your choice.

A population is a group of interbreeding individuals of the same species that inhabit the same

space at the same time. The total of all alleles carried in all members of a population is called

the gene pool. Alterations of a population’s gene pool are called microevolution. In nature,
the genetic makeup of the population changes over time as new alleles arise by mutation or
are introduced by immigration, and as rare, preexisting alleles disappear when all individuals
carrying them die or leave the population. Changes in the frequency of alleles in a population
are the basis of microevolution. Allele frequency is the proportion of genes in a whole
population that are of a given allele type. Both homozygotes and heterozygotes contribute to
the frequency of the allele. The Hardy- Weinberg principle states that in a large population
mating at random and in the absence of other forces that would change the proportions of the
different alleles at a given locus, the process of sexual reproduction alone won't change these
proportions. Many factors can alter allele frequency however only five factors alter the
proportion of homozygotes and heterozygotes enough to produce significant deviations from
the proportion predicted by Hardy-Weinberg principles. They are Mutation, Gene flow, Non-

random mating, genetic drift, and Natural selection.

Mutations are the heritable changes in DNA molecules. They are random events. Most times
mutations occur as mistakes of the pairing of bases in DNA replication. Most chromosomal
mutations occur due to the mistakes of crossing over and chromosome pairing at meiosis.
Recessive mutations, dominant mutations, lethal mutations, chromosomal mutations, and
somatic mutations are the main type of mutations. Mutations act good and bad characters.
Mutations are the major source of genetic variation and natural selection works on the genetic
variation within the population. Mutation from one allele to another can obviously change the
proportion of particular alleles in a population. However, mutation rates are generally so low.
A typical gene mutates about once per 100,000 cell division. Therefore, the mutation has
little effect on the Hardy-Weinberg proportion of common allele but an individual mutant
allele may have greater impacts later through increases in its relative frequencies as a result
of genetic drift.
Genetic drift is a mechanism of evolution. Allele frequencies of a population change over
generations due to the chance that is genetic drift. Genetic drift occurs in all populations, but
its effects are strongest in small populations. Though genetic drift occurs in any population, it
is particularly likely in situations with the founder or bottleneck effects. The bottleneck effect
is a sudden decrease in population size caused by adverse environmental factors. The founder
effect is genetic drift when a small population colonizes a new area.
In the bottleneck, effect Organisms do not move from place to place. Occasionally the
population may be drastically reduced due to flooding, drought, epidemic diseases, and other
natural forces. Such events may randomly eliminate most of the members of the population
without regard to genetic composition. The surviving members (the population with the
bottleneck) may have allele frequencies that differ from those of the original population, as
well as allele frequencies, are expected to drift substantially during the generations when the
population size is small. After a considerable time, the population with the bottleneck may
return its original size but the new population has less genetic variation than the maternal
population. When considering the example of the bottleneck effect, first, before 1890
northern elephant seals had a lot of genetic variations after 1890 reduced their genetic
variation probably because of a population bottleneck effect that bottleneck is humans
inflicted. This population bottleneck effect reduced their population size to as few as 20
individuals at the end of the 19th century. The northern elephant seals population has since
rebounded to over 30,000 but their genes still carry the marks of this bottleneck. Modern
northern elephant seals have much less genetic variation than a southern elephant seals
population that was not so intensely hunted. The other example is approximately 10,000 to
12,000 years ago the African cheetah population size was dramatically reduced because the
African cheetah population lost a substantial amount of its genetic variation due to a
bottleneck effect after a considerable time the population eventually rebounded, but the
bottleneck significantly decreased the genetic variation. Some alleles are lost because of the
bottleneck effect as well as other alleles are over-represented. The bottleneck effect usually
reduced genetic variation. A lot of endangered species are faced with bottleneck effects. The
importance of the bottleneck effect is that support evolution by Reduction of population size
may reduce gene pool.
Sometimes one or a few individuals disappear and become the founders of a new isolated
population at some distance from their place of origin. These pioneers are not likely to have
all the alleles present in the source of the population. Some alleles may be lost from the new
population or others may change drastically in frequency. In some the previously rare alleles
in the source population may be a significant fraction of the new population genetic
endowment. This phenomenon is called the founder effect. The African population of Dutch
settlers in South Africa is mainly descended from several colonialists. Present, the African
population has an unusually high frequency, leading to Huntington's disease (Huntington’s
disease is a disease, which commonly among European). This effect is easy to detect in
genetic diseases. The significance of this effect is that the genetic variation is reduced and
some alleles increase in frequency, others disappear.
Mutation and the effect of genetic drift contribute to evaluation as described.

Task 02

1. Explain the molecular genetics and its application in forensic sciences (30 marks)

Molecular genetics is the subject that studies the molecular structure of DNA, its cellular
activity, and its effect on determining the overall appearance of an organism. At present
molecular genetics applications are used for the lot of fields. Medical Diagnosis and
Treatments, forensic science, etc. examples for that.
Molecular genetic applications are used for forensic identification most of the time at the
present. identification of criminals who did such as murder, sexual abuse, burglary; To find
family relationships such as Disputed paternity in child maintenance cases, adultery, incest,
immigration. And identification of Mutilated bodies etc. is the most popular use. To establish
the identity of an individual, Biological materials are typed using various technics.
Odontological evidence, Tissue and body fluid typing, and Fingerprints are the commonly
used Methods for Human Identification. Odontological evidence is used to identify dead
individuals from dental records and identify criminals from bite marks. Odontological
materials are one of the strongest materials in our body; therefore Odontological materials
such as dental enamel do not rot for a long time.
Until recently chiral fingerprint was the most significant method for criminal investigations.
Only chiral fingerprints can distinguish identical twins. Fingerprint analysis has some
Drawbacks such as cannot be taken if gloves were worn, etc. In this way cannot be found
family relationships.
Biological samples can be used for forensic identification. These samples should be
consisting of nucleated cells. ABO blood grouping, Serum protein analysis, Blood cell
enzymes, Human leukocyte antigens are some of the ‘Classical’ markers. This method is
increasingly used to identify many criminals involved in sexual abuse. Disadvantages of
‘Classical’ blood and tissue typing methods are that mainly involve the analysis of proteins
(Proteins degrade easily due to microbes and environmental conditions), criminals can be
narrow down the possible sources of biological evidence, etc.
At the present DNA based Human Identification is now mainly used for forensic science.
Also, everyone knows, this method is called DNA Fingerprinting. Although fingerprinting is
commonly used DNA profiling is the most preferred general term. This method Introduced
by Alec Jeffreys in 1985. DNA fingerprint is an analysis of the nitrogenous base sequence in
the DNA of an individual. The common uses of DNA fingerprinting for forensic science are
that Paternity testing, Ancestry analyzing, identifying a body and excluding suspects, etc. The
genome structure of each person is unique (except for monozygotic identical twins). DNA
can be obtained from any biological sample of one individual and used as evidence. A
multicellular body arises from a single cell the same DNA information is obtained from any
biological sample of a person. Can be generated a set of distinct DNA fragments from a
single DNA sample. Blood, Hair, Saliva, Semen, Vaginal canal swab, and Body tissues are
the example for biological Samples. About 0.1% of the DNA is varying in all individuals.
Most of the time they are used for human identification. The first step of DNA fingerprinting
is DNA extracted from blood, saliva, or other samples and purifying. As the second step, the
purified DNA molecules should be cut into different fragments by using a group of enzymes
called restriction endonucleases. These fragments are called polymorphisms. After that, the
restriction fragments produced during DNA fragmentation are analyzed using gel
electrophoresis. The fragments are negatively charged and can be easily separated by
electrophoresis, which separates molecules based on their size and charge. The fragmented
DNA samples are placed in the chamber containing the electrophoretic gel and two
electrodes. When an electric field is applied, the fragments migrate towards the positive
electrode. Smaller fragments move faster through the gel leaving the larger ones behind and
thus the DNA samples are separated into distinct bands on the gel. As the 4th step, The DNA
obtained is denatured by alkaline and transferred into charge membrane or Nitrocellulose
paper. After that, the nitrocellulose paper transferred with DNA is fixed by autoclaving. After
that, the labeled probe is hybridized with DNA on the nitrocellulose paper. Finally, Analyze
DNA profile, by comparison, these are the main steps of DNA fingerprinting. There are four
types of DNA sequences that can be used as markers for DNA fingerprinting. They are
restriction fragment length polymorphism (RFLP), Mini-satellites or variable number tandem
repeats (VNTR), Microsatellites or simple tandem repeats (STRs), and Single nucleotide
polymorphisms (SNPs).
RFLP analysis, VNTR analysis, PCR analysis, STR analysis, RAPD analysis, AFLP analysis,
mitochondrial analysis, Y-chromosome analysis are the most common types of DNA
Fingerprinting Technique.
Restriction fragment length polymorphism is a Stretch of DNA that serves as a marker for
mapping a specified gene. RFLPs are located randomly throughout a person’s chromosomes
and have no apparent function. When RFLPs are used for DNA fingerprinting, prepare RFLP
probes as discussed above after that RFLPs can be visualized using X-ray film in
autoradiography, where DNA fragments can be viewed and analyzed. If the RFLPs within or
close to the locus of a gene cause a particular disease it is possible to trace the defective gene
by RFLP analysis. DNA fingerprinting can be used to identify a child’s parents. Each child
inherits one set of chromosomes from each parent. Some RFLPs are inherited from the
mother and some from the father, therefore RFLPs analysis is used to identify Paternity as
well as sometimes it can be used to identify criminals. RFLP is a low and more tedious
process. it is the main Disadvantage.
VNTRs also is known as mini-satellites, like RFLPs, are DNA fragments of different lengths.
VNTRs are made up of tandem repeats of short base sequences (10-100 base pairs). the
number of elements in a given region may vary hence they are known as Variable number
tandem repeats. Some VNTR sequence segments are found at only a single locus in the
human genome. Probes made of these sequences are single locus probes and yield this pattern
when used to probe RFLP blots of DNAs. Other VNTR sequence segments occur at many
loci in the human genome. These loci are dispersed among the genes. Multi-locus VNTR
probes yield patterns like bar codes. VNTRs have become essential in forensic crime
investigations.
Currently, the most popular method of DNA fingerprinting method is STRs. Short Tandem
repeats also known as micro-satellites, have 1-7 nucleotide bases per repeat. as they are
shorter segments make it less susceptible to degradation.
PCR analysis determines the presence or absence of alleles similar to older samples. The
importance of this method is that Less DNA is needed, less specific, and simple and fast.
Examines genetic markers in Y chromosomes is only for males. That is used in sexual assault
cases that involve more than one male suspect.
Uses low-stringency PCR conditions for Random Amplified Polymorphic DNA (RAPD)
analysis. Prior genomic knowledge is not needed for this. Sometimes Interpreting results can
be challenging. RAPD can be used identification of Genetic relations.
Use mtDNA for mitochondrial analysis. The main importance of this method is sample does
not need to have nucleated cells and can be studied not rotting old samples such as nails, hair,
etc.
AFLP analysis is used to detect the absence or presence of polymorphism.
Advantages of DNA Analysis are that Minute quantity is sufficient to obtain a DNA profile,
any sample from the body can be typed, partially degraded DNA may be typed, Positive
identification of individuals, family relationships can be found, and Link between two or
more crimes done by one person. Problems of DNA Analysis are that High probability for the
sample to be contaminated, Fake DNA evidence, Chimerism, and VNTRs are not distributed
evenly throughout the racial population.

2. Illustrate molecular farming for new drugs (30 marks)

Molecular farming is the production of transgenic plants and other bio-reactors to produce
pharmaceutical substances. It is also known as biopharming.
Chemical and microbial medicines are being used more at present but plants are used for
medicinal purposes for thousands of years. Recombinant DNA technology in higher plants
has opened up a new field of basic research and application in botany. Basically, foreign
genes can be introduced into any type of plant and produce therapeutic proteins such as
antibodies, blood products, cytokines, growth factors, hormones, vaccines, and enzymes. The
production of recombinant proteins from plants has many advantages. they are that the
production cost of pharmaceutical substances using plants is less than animal cells and
microbial cultures, The agricultural and food industries have large-scale harvesting and
processing technologies, The health risks posed by human pathogens and microbial toxins are
minimized when selecting a suitable plant host, and Cleansing can be eliminated when used
as a plant tissue food (edible injection) such as tomato fruit, which contains regenerating
protein, etc. . But some weaknesses have to be overcome for this method.
The process of
plant molecular
farming is that
the first step is
genes for proteins
are isolated from
plants, animals,
microorganisms,
or human. After
Figure 1 –The process of plant molecular farming that genes are
inserted into
expression
vectors and
vectors are inserted into plant chromosomes. Next, cells expressing the desired protein are
selected and grown into cultures. After that engineered cells grow into a whole plant; finally,
propagate that plants, and extract proteins. Sometimes proteins are extracted by cells in
suspension-cultured.
Currently, a lot of therapeutic proteins are manufactured under this technology. for example,
manufacturing human serum albumin using potato, manufacturing α-tricosanthin using
tobacco, manufacturing α- and β-hemoglobin using tobacco, manufacturing α-interferon
using rice, manufacturing epidermal growth factor, erythropoietin and tuber growth factor
using tobacco, manufacturing hirudin using canola, manufacturing protein C using tobacco,
manufacturing glutamate decarboxylase using tobacco, manufacturing human somatotropin
using tobacco, and manufacturing calcitonin using potato can be mention. As well as vaccines
are produced from this technology. examples for that, manufacturing rabies virus
glycoprotein for rabies using tomato, tobacco, and spinch; manufacturing capsid protein
epitope for mink enteritis virus using cowpea, manufacturing spike protein for piglet
diarrhea using tobacco, manufacturing CT-B toxin for cholera using potato, manufacturing
LT-B toxin for travelers diarrhea using potato, manufacturing hepatitis B surface antigen for
cholera using potato and tobacco, manufacturing human cytomegalovirus glycoprotein B for
human cytomegalovirus using tobacco, manufacturing Norwalk virus antigen for
gastrointestinal distress using potato and tobacco, manufacturing foot and mouth disease
antigen for foot and mouth disease using cowpea, manufacturing malaria antigen for malaria
using tobacco, manufacturing GP 41 peptide for HIV-1 using cowpea and manufacturing
hemagglutinin for influenza using tobacco, manufacturing c-Myc for cancer using tobacco
can be mention. Also, antibodies for diseases like colon cancer, HSV-2, Hodgkin’s
lymphoma, etc. can be manufactured from molecular farming. Thousands of more new drugs
shall be manufactured from this technology in the future.
 Conclusion

Mutation and the effect of genetic drift are mainly contribute for the evolution.
Currently molecular genetic is being used very successfully to identify criminals.
At present lot of drugs are manufactured from the molecular farming. Thousands of more
new drugs shall be manufactured from this technology in the future.
Reference

1. Dumache, r., Ciocan, v., Muresan, c. and Enache, a., (2016). Molecular Genetics and
its applications in forensic sciences. [online] Available at: < https://
www.intechopen.com / books / forensic - analysis – from - death-to-justice/molecular-
genetics-and-its-applications-in-forensic-sciences> [accessed November 07, 2020].

2. Winchester, A., (2020). Genetics. [Online] Encyclopedia Britannica. Available at: <
https://www.britannica.com/science/genetics/Applied-genetics > [accessed November
07, 2020].

3. Worcester polytechnic institute, (2006). DNA Fingerprinting. [Online] Available at: <
https:// web.wpi.edu / Pubs / E-project / Available / E-project-011306-130417 /
unrestricted / IQP.pdf > [accessed November 07, 2020].

4. Kumar, N., (2012). Molecular farming. [Online] SlideShare. Available at: < https://
www.slideshare.net / urwithnirmal / molecular-farming ? next_slideshow = 1
[accessed November 08, 2020].

5. Kumar, N., (2012). The process of plant molecular farming. [Online image] Available
at: < https://www.slideshare.net/urwithnirmal/molecular-farming?next_slideshow=1 >
[accessed November 08, 2020].