Characterisation of variant alleles at the HUMD21S11 locus
- Publication Type:
- Thesis
- Issue Date:
- 2011
Open Access
Copyright Clearance Process
- Recently Added
- In Progress
- Open Access
This item is open access.
Significant genetic substructure within a population can affect the evidential weight of a
DNA profile to the detriment of a defendant. To prevent this from occurring, forensic
examiners continually look to understand more about the degree and structure of genetic
variation within a population. A part of this involves the characterisation of the
microsatellite loci applied in forensic testing.
The HUMD21S11 microsatellite is commonly used in forensic examinations in
conjunction with a suite of other microsatellite loci in order to identify individuals who
may have been present at a crime scene, or who cannot be identified through more
traditional non-genetic means (such as visual, dental or medical records) .
This research confirmed the existence of an ancestral relationship between the
indigenous populations of Australia and Papua N ew Gu1nea as well as the presence of
regional differentiation within the Australian Aboriginal population. The sequence
variation present at the HUMD21S11 microsatellite locus makes it a suitable candidate
to further understand and describe the regional differentiation within the Australian
Aboriginal population.
This study also confirmed that microsateliites are able to retain their variability after
structural change (Moller et al. 1994, Brinkmann et al. 1996, Griffiths et al. 1998,
Walsh et al. 2003), and that a single mutation event can involve single repeat units or
multiple repeat units.
The structural complexity of microsatellites like HUMD21S11 could be used to further
develop mutation models as well as investigate the proposal that the mutation rate of
microsatellite loci is be dependent on the DNA sequence present.
The sequence variation at the HUMD21S11 microsatellite is prevalent enough in the
Australian Aboriginal population, to warrant a more complete investigation of the
genetic variation at this locus. However, in order to better understand the genetic
diversity present in the Australian Aboriginal populations, examination of the
population based on traditional tribal boundaries (rather than judicial boundaries) is
recommended.
Additional population studies at the sequence level will increase our level of
understanding about the genetic relationships of the Australian Aboriginal population
on a local and global level. The sequence data obtained will also assist in the
understanding of the mutation process and aid in the development of statistical models.
Please use this identifier to cite or link to this item: