Laboratory Report: Detection of genetic disorders

Instructions for Laboratory Sessions

You should attend the laboratory sessions in order to collect data for the report. However, if circumstances prevent the on site collection of data, instructional videos and pre-prepared data sets will be released to students. 
 
Your report should be submitted via the Turnitin link on the 5033BMS Aula site. Do not include your name on your submitted work. Word or time limit 1200 words You should state your word count at the end of your work. If you exceed the word limit by more than 10% i.e. if you exceed 1320 words, then you will be penalised by deduction of 10% of your final mark.  Work that is more than 30% above the allocated word limit (i.e. 1560 words or more) will only be read up to the allocated limit. Special instructions By submitting this assessment you are declaring yourself fit to do so. If you are not fit to submit at this time you may apply for extension to the deadline or deferral to the next assessment period (see Extension and Deferral request instructions). Please note that if an extension to the deadline is granted, the 24 hour grace period DOES NOT apply.  

By submitting this assessment you agree to the following statement: 
I confirm that this CW submission represents my own work, and I have not received any unauthorised assistance. I understand the rules around plagiarism, collusion and contract cheating and that it is my responsibility to act with honesty and integrity in the assessment process. I understand that there will be no tolerance towards academic dishonesty, and that cheating can and will lead to serious consequences.

 

Section 2- Detail of the Assessment task 
Your lab report should be structured as follows:  
1. Title- short, informative, related to the experimental aims  
 
2. Introduction- relevant background information supported by evidence from literature (with correct reference citation using APA formatting). You can generate your own figures for this section to illustrate points/aspects.

Aspects to include: 
? Summary of Q2X mutation (base change involved, type of mutation, how changes protein). 
 
? Very briefly explain the principles of the Restriction Fragment Length Polymorphism (RFLP) analysis and Sanger sequencing you performed. 
 
? For the RFLP analysis: using information and bioinformatics tools introduced in the module, demonstrate where the PCR primers bind within the human genome, the amplicon length and sequence, as well as the restriction enzyme cut positions and fragment lengths. It should be clear what the aim of your experiment was and what you expected to see in the gel. Reference any online tools or published literature used to gather information. 
 
3.  Methods- refer to the schedule and give the appropriate reference citation (APA formatting) 
4.  Results- descriptive text with integrated Figures/Table. The results should be presented in a logical order and Figures/Tables should be clearly presented and labelled.  
? For each experiment/figure: (a) introduce what you did and why; (b) then show the Figure/Table; (c) then clearly describe the Figure/Table. Note – for the gel image, describe the bands observed and how they have run compared to the marker bands, but do not provide your conclusions about the genotypes of each patient (see 5. Discussion section). Similarly for the Sanger sequencing data, describe the DNA bases found at the mutation site but again do not provide your conclusions about the genotypes of each patient until the Discussion section. 

Section 2- Detail of Assessment Task

? Data to include: spectrophotometry results of genomic DNA prep (print out image, or tabulated results if image quality is too poor to see text), your group gel image (even your experiment did not work). Example class spectrophotometry data and class gel image that did not work properly will be provided on Aula for online students), example gel image that clearly shows bands (provided on Aula), spectrophotometry results of your purified PCR product, Sanger sequencing results provided on Aula (process Sanger data into suitable and presentable figure). 
 
5. Discussion- interpret and evaluate your results. Summarise and discuss the data that you have obtained. Draw conclusions. 
Using your spectrophotometry data and gel image (or example class data provided on Aula):

 

? Explain what the spectrophotometry data indicated about the quantity and quality of both the genomic DNA prep and purified PCR product. If you did not attend the lab, example class spectrophotometry data will be provided (on Aula) that you can comment on. 
 
? Comment on whether the class group gel image was of a high enough quality to determine the genotypes of any of the individuals. If any aspect of the experiment did not work (e.g. no bands in the gel image), provide possible suggestions for why this may have occurred. The spectrophotometry data may or may not indicate why that specific sample of the four did not work. If you did not attend the lab, example class gel image that did not work properly will be provided (on Aula) for you to comment on. 

Using provided example gel image that clearly shows bands (provided on Aula): 
? What conclusions can you make about the genotypes of each of the patients based on the parental genotype information and RFLP analysis? Explain your reasoning. Are there any limitations of using this analysis alone (i.e. without Sanger sequencing) for distinguishing particular genotypes? 
? Diagnose each individual where possible based on the parental genotype information and RFLP analysis (have cystic fibrosis, CF carriers, WT). 
Using the provided Sanger sequencing data (provided in Aula): 
? Do the Sanger sequencing results agree with your RFLP-based diagnosis? Do the Sanger sequencing results permit you to make any further conclusions about the genotype or disease state of any individuals? Explain your reasoning.

? Are there any additional controls that should be used when testing samples for a pecific mutation?  
? Briefly summarise relative advantages/disadvantages of RFLP analysis and Sanger sequencing for detecting point mutations. Support your evaluations by reference to appropriate published literature.
6. Reference list- this should list all references CITED in your report with full details to enable the reader to access these independently. Use APA formatting. Ensure the list is in alphabetical order by first author surname 
 
Detail of submission/ attendance instructions
 
A DRAFT Turnitin link is available in the Course Community Aula site to allow you to check your similarity score prior to making your final submission. You may submit multiple times to this link, but do remember that obtaining a similarity report may take up to 24 hours.  The  FINAL  Turnitin  link  on  the  module  Aula  page  is  for  submission  of  your  work  for assessment. You may submit only ONCE to this link. Remember that submission make take some time to complete, so aim to submit several hours before the deadline. The TurnitinUK system will record the date and time of your submission and cannot be over- written.  Please convert your final submission to a PDF format as these suffer less from formatting changes. knowledge to explain current diagnosis and management of common infectious and non-communicable diseases. 

Submission and Attendance Instructions

5. Analyse, interpret and evaluate laboratory data for the detection of genetic disorders. Mapping to course Learning Outcomes 
This assessment relates to the following Course Learning Outcomes:

BSc Biomedical Science:  
1. Demonstrate an in depth understanding of the scientific basis of human health and disease and be able to apply this knowledge to explain current diagnosis and management of common infectious and non-communicable disease.   
3. Perform a wide range of regularly used laboratory techniques competently, with due regard to health and safety, appropriate 
experimental design and data recording. 
4. Access, synthesise, critically analyse and present scientific information in multiple formats, suitable for diverse audiences. 
5. Analyse and interpret data from a range of different sources, using appropriate digital technology, including large data sets. 
6. Apply problem solving strategies in a variety of situations and be able to propose creative solutions. 
Task type/scheduling rationale As a practising scientist, you will need to be able to analyse and communicate the results of experiments and genotyping assays in a written form. This task will help develop your ability to write a formal lab report by focusing on data presentation, analysis and diagnosis, and interpretation. The submission deadline is chosen to allow you approximately 6 weeks after the lab sessions to analyse and write your report. You will also be able to attend a coursework support sessions.
  
This assignment brief has been moderated by a member of academic staff outside the module team. All submissions will be marked anonymously. Marking will be completed by academic staff, which may include hourly paid staff. The marking will then be moderated by a member of the module team and reviewed by an academic staff member outside the team. The module feedback and marks will then be moderated by the external examiner.  Your mark will be reported as a banded mark according to the school’s banded marking guidelines. 
Feedback and return of marks . All banded marks  released  are  subject  to final  Progression  and .Awards Board decisions and are therefore provisional until after the Board sits.  Provisional marks will be released on 1st Dec 2021 via the Aula site in the Student Success App.  Feedback comments can be accessed by clicking  on your submission  in  Turnitin  and  selecting  the  comments  icon.  The completed marks rubric can be accessed through the rubric icon.  If  you  have  any  questions  about  your  feedback,  contact  the module leader.  

 
Following  the  Progression  and  Awards  Board,  your  marks  will be confirmed, and  you  will  be  able  to  view  your  final  grades through SOLAR together with information on any resit or deferral arrangements.  If  you  require  further  clarification,  contact  your Course Director or Faculty Registry.  
Section 6: General Information 
Penalties for late/non-submissions Work that is submitted late, without an extension or deferral having been granted, will receive a mark of ZERO (students will normally be eligible for a resit attempt). 
Work that is not submitted or tests/exams etc not attended, without an extension or deferral having been granted, will be recorded as Absent (ABS). In these cases it is at the discretion of the Progression and Awards Board as to whether you will be permitted a resit attempt.  
Extension and Deferral requests :
If you are unable to submit coursework or attend an assessment e.g. test, examination, presentation or assessed laboratory session you may be eligible to apply for an extension or a deferral.  Please refer to the Extenuating Circumstances guidance on the Student Portal.

Course Learning Outcomes

Deferral or Extension requests must be made before the due date of the assignment and must be accompanied by appropriate evidence. Please be aware that deferral of an assessment may affect your ability to progress into the next academic year of study, therefore you are advised to seek advice from your tutor or course director if you are considering referring an assessment.  

Reference formatting Coventry University now uses the APA Referencing Style. However, if you started your course before 1st September 2020, you may continue to use the Coventry University Guide to Referencing in Harvard Style until you graduate. For support and advice on how to reference appropriately please see the online referencing guidance or contact your Academic Liaison Librarian. SLS banded marking scheme The SLS banded marking approach recognises that marking cannot be exact and avoids students being awarded marks that lie close to a grade boundary.  The banded marks that may be awarded are as follows: 
Outstanding                      82, 85, 88, 90, 95, 100  
Excellent                            72, 75, 78  
Very Good:                      62, 65, 68  
Good                               52,55,58  
Acceptable                      42,45,48  
Fail (does not meet LOs)  0,10,20,30, 35  
 
Academic Integrity Academic dishonesty hurts everyone in the community. It not only damages your personal reputation, but also the reputation of the entire University, and it will not be tolerated at Coventry University. It is in the best interest of all students for the University to maintain the good reputation of its awards. Your co-operation is expected in actively protecting the integrity of the assessment process.  It  is  your  duty  to  observe  high  personal  standards  of academic honesty in your studies and to report any instances of malpractice you become aware of, without fail.  We expect students to act with academic integrity, which means that  they  will  study  and  produce  work  in  an  open,  honest  and responsible manner. It is important, therefore, that you understand fully how to avoid academic misconduct and where to obtain  support.  Academic  dishonesty  covers  any  attempt  by  a student to gain unfair advantage (e.g. extra marks) for her/himself, or for another student, in ways that are not allowed.   
Examples of such dishonesty include:  

? Collusion includes  the  knowing collaboration,  without approval,  between  two  or  more  students,  or  between  a student(s) and another person, in the preparation and production of work which is then submitted as individual work. 
In  cases  where  one  (or  more)  student  has  copied  from another, both (all) students involved may be penalised. 

? Falsification includes the presentation of false or deliberately misleading data in, for example, laboratory work, surveys or projects. It also includes citing references that do not exist.  
? Deceit  includes  the  misrepresentation  or  non-disclosure of  relevant  information,  including  the  failure  to  reveal  when work  being  submitted  for  assessment  has  been  or  will  be used for other academic purposes.  
? Plagiarism  is  the  act  of  using  other  people's  words, images  etc.  (whether  published  or  unpublished)  as  if  they were your own. In order to make clear to readers the difference between your words, images etc. and the work of 
others, you must reference your work correctly  
? Self-Plagiarism  is  the  reuse  of  significant,  identical,  or nearly identical portions of your own work without acknowledging  that  you  are  doing  so  or  without  citing  the original  work,  and  without  the  written  authorisation  of  the module leader.  
? Re-presentation  is  the  submission  of  work  presented previously  or  simultaneously  for  assessment  at  this  or  any other  institution,  unless  authorised  in  writing  by  the  module leader and referenced appropriately.  
? Exam Misconduct is any attempt to gain an unfair advantage in an assessment (including exams/tests) or assisting another student to do so. It includes: taking unauthorised materials into exams, copying from other candidates, collusion, impersonation, plagiarism, and unauthorised access to unseen exam papers. For online tests or  exams  where  a  time  window  applies,  this  also  includes sharing or accessing shared questions and/or answers. In the event of an allegation of exam misconduct you are advised to contact  the  Student  Union  Advice  Centre  immediately  after the incident. For more details (including misconduct investigations and penalties) please consult the Faculty of Health and Life Sciences Student Handbook.