This module has been designed to give the student an understanding of forensic genetics from the collection of biological evidence, to the analysis, interpretation and presentation of the DNA evidence. Theoretical aspects of this module are complemented by laboratory experiments delivered in the ‘Laboratory skills in DNA and forensics’ module in this semester.
The genome and forensic genetics
Organisation, structure and diversity of genome; Tandem repeats, Single nucleotide polymorphisms, International bodies related to DNA profiling.
Collection, characterization and storage of biological material
Sources of biological evidence; collection and handling of material at crime scene; identification and characterisation of biological evidence; evidence collection; sexual and physical assault; presumptive testing, storage of biological materials
DNA extraction and quantification
Principles of DNA extraction, extracting DNA from challenging samples, Quantification of DNA
The polymerase reaction
DNA replication as the basis of PCR, reaction components, PCR process, inhibition, sensitivity and contamination issues.
Analysis and assessment of short tandem repeats
Structure of STR loci, STR multiplexes, detection of STR polymorphisms, Interpretation of STR profiles, stutter and split peaks, pull up, low copy number DNA, mixtures, degraded DNA
Statistical interpretation of STR profiles
Population genetics, Deviation from hardy-Weinberg equilibrium, estimating frequencies of STR profiles, correction factors for profile frequencies
Evaluation and presentation of DNA evidence
Hierarchies of propositions; 3 approaches to evaluation of DNA evidence: frequentist approach, likelihood ratios and Bayesian approach.
Data management and DNA databases
LIMS system for data management, Irish DNA database legislation, UK and US DNA databases, Familial searching
Kinship testing
Application of DNA profiling to paternity testing and identification of highly compromised human remains
Single nucleotide polymorphisms (SNPs) and lineage markers
Detection of SNPs, forensic application of SNPs, mtDNA genome and hypervariable regions, applications of mtDNA profiling in forensics, Y chromosome polymorphisms; forensic applications of Y STR profiling, role of next generation sequencing.
| Module Content & Assessment | |
|---|---|
| Assessment Breakdown | % |
| Formal Examination | 70 |
| Other Assessment(s) | 30 |