MOLECULAR DIAGNOSTICS

SHE Level 3
SCQF Credit Points 20.00
ECTS Credit Points 10.00
Module Code M3C723501
Module Leader Gillian Hunter
School School of Health and Life Sciences
Subject Biological and Biomedical Sciences
Trimester
  • A (September start)

Pre-Requisite Knowledge

Mechanisms of Cellular Regulation (M2C723491) or equivalent.

Summary of Content

Basis and application of nucleic acid based molecular testing in disease diagnosis, disease prognosis, disease progression, personalised medicine, therapy, research, forensic investigation and food authentication. How features of genomes can be exploited for DNA based strategies for diagnosis and monitoring.

Syllabus

Fundamental nucleic acid based technologies Principles and methods of isolation, purification and analysis of DNA. Review of DNA synthesis, synthetic biology, principles of hybridisation and introduction to PCR. Recombinant DNA Technology, including ligase dependent and independent strategies. Basis of Genetic Variation DNA damage (e.g. DNA replication error, endogenous and exogenous chemical damage), repair (e.g. mismatch repair, base excision repair, nucleotide excision repair, homologous recombination-mediated DNA repair, non-homologous end joining), polymorphisms, restriction fragment length polymorphisms, single nucleotide polymorphism, insertion and deletion, microsatellites. Proteins, sequence variation and function. Bioinformatics Awareness, access and interrogation of databases. Genetic Variation, Disease and Detection with examples Single gene disorder inheritance patterns, such as simple Mendelian inheritance, QPCR and capillary gel electrophoresis, large-scale DNA changes, small-scale DNA changes. Analysis and diagnosis of selected monogenic conditions, restriction fragment length polymorphisms, copy number variants, amplification refractory mutation system, oligonucleotide ligation assay, triplet repeat-primed PCR, sequencing. Prenatal diagnosis, pre-implantation genetic diagnosis. Chromosomes Chromosome banding, chromosome abnormalities including translocation, copy number (aneuploidy), fluorescence in situ hybridisation and quantitative fluorescent PCR and selected disease examples. Forensic analysis and food authentication Selected examples of the application of DNA based molecular diagnostic technologies in forensic analysis (crime, paternity, evolution) and the analysis of food (e.g. detection of genetically modified food and food authentication). Pharmacogenomics & Personalised medicine Basics of drug metabolism and selected examples of the effect of genetic variation, how people respond and the potential future impact of genomic technologies to therapy.

Learning Outcomes

On successful completion of this module, the student should be able to:1. Discuss the principles of genetic variation, mechanisms of DNA repair and Mendelian and Mitochondrial DNA inheritance patterns.2. Interpret Pedigrees showing autosomal dominant and recessive, x-linked dominant and recessive inheritance patterns.3. Use Bioinformatics databases.4. Describe the principles of nucleic acid based gene detection and recombinant DNA technologies.5. Apply nucleic acid based detection technologies to forensic analysis, food authentication and monogenic disease diagnosis.6. Analyse nucleic acids based data for diagnosis.

Teaching / Learning Strategy

The application of the technologies discussed in this module to a broad range of areas including disease diagnosis, pharmacogenomics, personalised medicine, forensic investigation and food authentication encourages divergent thinking. The use of case studies encourages broader and deeper learning. Case studies combined with laboratory based application of these technologies and the analysis and interpretation of experimental data exposes students to real world problem solving. The technologies discussed have a broad range of applications in biological sciences in the health service, industry, public health, crime and research. Consequently they are relevant worldwide and so provide students with a global learning experience as well as being highly relevant to their entrepreneurship and employability.

Indicative Reading

Genetics and Genomics in Medicine, Strachan (2015), Garland Science Molecular Biology of the Cell, Alberts et al 6 th edition (2015), Garland Science

Transferrable Skills

Transferable skills Knowledge and use of DNA based diagnostic technologies to a broad range of applications including health, food and drink industries, forensic investigation, research and the pharmaceuticals industry. Investigative and analytical skills in the interpretation of data. Practical skills in the preparation, handling and analysis of nucleic acids Interrogation of databases The common good curriculum: The module aligns well with the common good curriculum with students encouraged to critically evaluate real world examples of molecular diagnostic tests. Critical analysis skills development allows students to examine presented facts in a positive manner. Career tracks: Practical laboratories and tutorials will prepare students for employment by providing experience in a range of molecular methods and critical data analysis. Lecture material relevant to potential employment in the molecular sciences will be highlighted.

Module Structure

Activity Total Hours
Practicals (FT) 18.00
Tutorials (FT) 2.00
Independent Learning (FT) 136.00
Assessment (FT) 20.00
Lectures (FT) 24.00

Assessment Methods

Component Duration Weighting Threshold Description
Course Work 01 n/a 50.00 35% Laboratory Report
Exam 01 2.00 50.00 35% Unseen exam based on analysis of case study data and MCQ