Sequence variation of the amelogenin gene on the Y-chromosome
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.