The accurate determination of gender of biological samples has valuable applications in
medical and forensic investigations. Gender determination based on length variations in
the X-Y homologous amelogenin gene, is part of most commercial multiplex DNA profiling
kits. The first report of a failure of the amelogenin sex test was in 1998 when two normal
males were typed as female. Subsequently, several amelogenin Y (AMELY) negative
males have been reported. This study represents the first report of this phenomenon in the
black South African population.
This study determined the size of the Y-chromosome deletion that resulted in the failure of
the amelogenin sex test in two black South African AMELY-negative males by typing
specific DNA markers surrounding the amelogenin locus. Through deletion size and
Y-chromosome microsatellite haplotypes, the relationship between the samples was
investigated. The samples were sequenced at the amelogenin gene and typed for thirteen
sites on the short arm of the Y-chromosome. In order to determine the Y-chromosome
haplotypes, eleven Y-chromosome microsatellite markers were typed.
These samples had the same size deletion of approximately 3 Mb. The Y-chromosome
haplotypes indicated that these were probably independent events. The frequency of
AMELY-negative males is rare in this population sample of 8,344 individuals, with a
frequency of 0.065% in the black South African sample population. Notwithstanding, tests
performed for detecting the presence of male DNA based on the presence of the
amelogenin gene alone should be reconsidered, as this study confirms that these
deletions do occur in the African population. The impact of the results generated in this
study on the medical and forensic practise of DNA testing is significant. / Thesis (Ph.D. (Biochemistry))--North-West University, Potchefstroom Campus, 2011.
| Identifer | oai:union.ndltd.org:netd.ac.za/oai:union.ndltd.org:nwu/oai:dspace.nwu.ac.za:10394/4412 |
| Date | January 2010 |
| Creators | Ferreira, Irma |
| Publisher | North-West University |
| Source Sets | South African National ETD Portal |
| Detected Language | English |
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