BIO318 Scientific Paper Assignment

As part of your coursework you are required to write the results and discussion
sections of a scientific paper based on the following information. Please read ALL the
information provided carefully and do not panic! Refer to your practical handout for
methods etc.

You have worked on a project for the last 12 months with the aim of determining the
occurrence of the C677T MTHFR mutation in blood samples collected from 318 ADULTS
FROM DUBLIN and 301 ADULTS FROM SUB-SAHARAN AFRICA. You isolated genomic
DNA from the blood samples and genetically typed them using the PCR-restriction
endonuclease method (exactly as described in the practical session).

The result of the analyses was as follows:

Figure 1 – A typical gel electrophoresis result obtained for the analyses of restriction
digested PCR product. A 100 bp marker was loaded into lane ‘M’ (so the smallest band is
100 bp and the bands increase in 100 bp increments). The results from the various
samples are represented in lanes 1, 2 and 3.

M 1 2 3

The African results were as follows: (301 in total)

 263 of the samples produced a result shown in the lane labelled 1 –
Homozygous C/C
 None of the samples produced a result shown in lane 2 – Homozygous
T/T
 38 of the samples produced the result shown in lane 3 – Heterozygous
C/T
The Irish results were as follows: (318 in total)
 148 of the samples produced a result shown in lane 1 – Homozygous
C/C
 41 of the Irish samples produced a result shown in lane 2 – Homozygous
T/T
 129 of the samples produced a result shown in lane 3– Heterozygous
C/T

From this data determine the % of each of the MTHFR genotype (i.e. MTHFR C677T: TT,
CC, CT) in the two different geographical populations. (Hint: the exact same
methodology for DNA isolation, PCR and restriction digestion was used as described in
your lab manual, so you can identify the restriction digestion pattern associated with
each genotype.

Write the results and discussion sections using this data (maximum 1000 words)

Advice and guidelines for writing a paper can be found on the next page.

IMPORTANT DEADLINE:
All scientific papers MUST be submitted to the drop box on BBL by
Midnight, Sunday 12th December 2021
 General Guide for writing the scientific paper

In general, a scientific paper should have the following structure:

 Title, author name, institutional affiliation
 Abstract
 Introduction
 Methods/materials
 Results
 Discussion
 References

Here is a very good guide to the basics of writing a scientific paper to be published in a
peer-reviewed journal https://www.youtube.com/watch?v=Vky9PDKx5KU

You will need to prepare the highlighted sections only

Below is a general guide on each section:

TITLE
Should succinctly describe the contents of the paper.

ABSTRACT
This is a brief summary of your study – include sentences on what you investigated, how
you did the study, the major findings, and a short discussion on the importance of the
findings. This is a summary of your paper, so you should write this section last!

INTRODUCTION
Establish the context of the work being reported – summarise the background to the
work. In this case – MTHFR – what does it do, what happens if this enzyme does not
function properly – what are the human health implications?
The final paragraph of the introduction should contain the hypothesis of the work or
what is the question that you are trying to answer in the study.

MATERIALS AND METHODS

State clearly how you carried out the study – how the samples were collected, how
many were collected. Describe the protocol (in the 3rd person – no use of ‘I’) in detail.
Write as a paragraph, no bullet points or numbered steps.

RESULTS (35%)
Present your key results as a graph, a pie chart, a table – whatever you think makes the
results look best. Remember to include a figure legend to describe what the result is
about. Although you present your results in graphs, tables etc you also have to text
describing the results. Look at the example papers to see how this section should be
written. However, this is just stating what you found – no explanation of them – that is
for the discussion.
You should calculate the allele frequencies in each population using the Hardy-Weinberg
equation.
Scientific paper guidance for Stats

Hardy-Weinberg equation genotype frequencies and allele frequencies

https://www.nature.com/scitable/definition/hardy-weinberg-equation-299/

Khan Academy on Hardy-Weinberg

Allele frequency
https://www.khanacademy.org/science/ap-biology/natural-selection/hardy-weinberg-
equilibrium/v/allele-frequency
Allele frequency and the gene pool https://www.khanacademy.org/science/ap-
biology/natural-selection/hardy-weinberg-equilibrium/a/allele-frequency-the-gene-pool
Hardy-Weinberg equation https://www.khanacademy.org/science/ap-biology/natural-
selection/hardy-weinberg-equilibrium/v/hardy-weinberg
Applying the Hardy-Weinberg equation https://www.khanacademy.org/science/ap-
biology/natural-selection/hardy-weinberg-equilibrium/v/applying-hardy-weinberg
Discussions of conditions for Hardy-Weinberg
https://www.khanacademy.org/science/ap-biology/natural-selection/hardy-weinberg-
equilibrium/v/discussions-of-conditions-for-hardy-weinberg
Mechanisms of evolution https://www.khanacademy.org/science/ap-biology/natural-
selection/hardy-weinberg-equilibrium/a/hardy-weinberg-mechanisms-of-evolution
Practice:Hardy-Weinberg equilibrium https://www.khanacademy.org/science/ap-
biology/natural-selection/hardy-weinberg-equilibrium/e/hardy-weinberg-equilibrium

http://www.phschool.com/science/biology_place/labbench/lab8/hardwein.html
https://www.youtube.com/watch?v=oEBNom3K9cQ
https://www.youtube.com/watch?v=xPkOAnK20kw

You should carry out a statistical analysis to decide whether the differences seen
between the two populations are significant.

https://www.youtube.com/watch?v=I10q6fjPxJ0

http://graphpad.com/quickcalcs/chisquared1.cfm

DISCUSSION (55%)
This is where you interpret your results. What do they mean? Why did you get those
results? If there is a difference in between the Irish and African data, why might that be.
How do your results fit in with other published work in the area? Do you think the
findings have implications for diet or medication in certain populations? Do you think
that supplementing diets with folate has any implications?

REFERENCES (10%)
This is where you list the other literature you have read or referenced during your study
– please follow Harvard guidelines.

A Quick guide to the steps you could take to carry out a statistical analysis to see if the
observed genotype frequencies in the two populations are significantly different.

1. Calculate the genotype frequencies in both populations - % CC, TT, CT.

2. Calculate the actual allele frequencies in both populations - % C, T.
3. Plug these allele frequencies into the Hardy-Weinberg equation to calculate the
expected genotype frequencies (of CC, TT, and TT) if the two populations are in
genetic equilibrium.
4. Carry out a Chi-squared analysis on each population to determine whether the
observed genotype frequencies differ significantly from the observed genotype
frequencies. Are the sample sizes large enough to allow you to draw conclusions
from your result?
5. Carry out a Chi-squared analysis to determine whether the genotype in the two
populations is significantly different. Hint- make the assumption that both
samples came from the same population and that the difference observed comes
only from a sampling artefact.