SCI07011 2020 Molecular Biology and Genetics

Appreciate historical aspects of genetics and understand the structure and function of nucleic acids and the mechanisms of human inheritance. Convey and communicate knowledge of genetic disease

Describe the main types of mutations and be able to discuss, using examples, how gain and loss of function mutations relate to phenotype and human health. Describe how advances in human genomics, gene therapy and prenatal screening will impact on the diagnosis and treatment of human disease. Analyse and solve a range of genetics problems. Be aware of key ethical issues within the field of study.

Explain the principles of core techniques in molecular biology and their current and potential applications in clinical diagnostic and research laboratories. Interpret and appraise the application of a diverse range of molecular biology protocols. Assess the value of adequate experimental controls and use appropriate sample sizes.

Develop the skills needed to plan and conduct a investigation of human genetic disease.

Gain practical experience in a range of core contemporary molecular techniques and their application in clinical and research context.

Accurately record and report data from experimental protocols.

Critically evaluate and analyse complex molecular biological data.

Present experimental research outcomes in the format of a scientific paper

Lectures will be used to deliver the key principles underpinning genetic defects that contribute to human disease conditions, molecular methods used for diagnosis and new treatments of genetic disease. Tutorials will guide students on accessing current scientific publications and promote discussion on advances in human genomic and gene therapy and prenatal screening, and the application of a diverse range of molecular biology techniques. Students will interact with etutor via online discussion, mail and chat tools with BBLearn. The Practical and associated exercises will provide an understanding of a number of core and specialised molecular methods that are applicable to the detection of genetic mutations that cause human disease. It will give each student practical laboratory experience of evaluating the performance of a number of methods, and provide an appreciation of the advantages and disadvantages of basic molecular approaches used in molecular diagnostics. Students will be given a tutorial on BLAST, PRIMER3 and NEBcutter bioinformatic analysis, primer design and restriction enzyme analysis, so as to aid their understanding of the Practical.

The module is offered fully online, except for the practicals which can either be carried out over 2 days during a visit to Coleraine Campus or within an appropriate work place laboratory facility.

Practical skills assessment [40%]

Genetics Practical Portfolio

Students will develop the skills to design and implement a DNA-based test for a genetic disorder.

Students will use bioinformatic programs to design PCR primers to amplify a particular region of the human genome containing a disease-causing mutation. They will then investigate whether this can be detected using restriction enzymes. Each student will be marked individually on this part of the assessment (10%)

Students will be given the materials required to PCR amplify a particular region of the human genome and to use and compare a variety of techniques (Restriction digest, allele- specific PCR and DNA sequencing) to detect mutations on a given gene. Although working as a group in practical classes, lab books will be written up and assessed individually. (10%)

Based on the practical skills acquired during the practical course, students will be given data from a population-wide genetic screen and asked to prepare a suitably formatted scientific paper (maximum 2000 words, not including references). This will be prepared with other members of the same group that the practical course is taken in. Peer-assessment of the relative contribution of each group member is used to ensure that each student's contribution to the submitted assignment is taken into account. Mark reflects 100% individual contribution. (20%)

Set exercise [10%]

Students, as part of a group, will be required to produce a patient advice leaflet for a genetic disease, such as Down's Syndrome or Cystic Fibrosis. Written feedback will be provided on a bespoke feedback sheet, giving the breakdown of marks and comments. In an appendix to the leaflet each group member will indicate which elements of the leaflet they contributed to. All group members will be asked to indicate whether all members of the group contributed equally and whether they are happy to receive the same mark.

Written examination [50%]

A two-hour examination paper which will be divided into two Sections. Section 1 will comprise 20 MCQs to cover the entire course (all questions must be answered) and Section 2 will consist of short-answer questions to cover the entire course (students must answer 8 from a choice of 10).

Within this module feedback will take the form of:

Introduction of learning objectives in the module and each class by the Module Coordinator / Lecturer

Discussions and debates within the lectures, tutorial classes and practical classes

Help, advice and comments in practical classes by lecturers, tutors and/or demonstrators Specific verbal comments on student work to help indicate progress and develop student understanding

Guidance and advice on academic progress from assigned Studies Advisor(s) and other staff.

N/A

Lectures

• Overview of DNA structure and function.
• Effect of DNA mutations on human health.
• Contemporary molecular biology techniques for the study of clinical genetics.
• Human Genome Project and its impact.
• Cancer Genetics.
• Inheritance: monogenic and multifactorial inheritance, mutation and disease.
• Developmental genetics.
• Pharmacogenomics/stratified medicine.
• Genetic testing and counseling.
• Approaches to treating genetic disease.
• Molecular pathology and specific disease examples. Practical sessions

Mutations centred on a specific locus of the methylenetetrahydrofolate (MTHFR) gene will be examined in the following sessions over 2 days:

• Protocol for genomic DNA isolation from blood.
• Analysis of genomic DNA by electrophoresis.
• PCR amplification of MTHFR exon 4 locus.
• Restriction enzyme typing of the 391bp MTHFR PCR product by HinfI.
• Allelle specific amplification (ASA) of MTHF exon 4 locus of MTHFR.
• Analysis of HinfI restriction digest.