In addition, amelogenins appear to aid in the development of cementum by directing cementoblasts to the tooth's root surface.
Other sources of amelogenin variation arise from the various isoforms of AMELX obtained from alternative splicing of mRNA transcripts.
Mutation in regions of AMELY intron 1 commonly used as primer annealing sites may disable PCR amplification.
In one study in Spain, the amelogenin sex determination test using AMELX (977bps) and AMELY (790bps) bands was performed for 1224 individuals of known gender with a 99.84% (1222/1224) accuracy rate.
In response the authors suggested that while the amelogenin sex test may be accurate in general, other Y chromosome markers such as SRY, STR, or 50f2 can be used for less ambiguous gender identification.
[6] In archaeology where DNA is too broken down to be analyzed by PCR, Liquid chromatography–tandem mass spectrometry (LC-MS/MS) is used to directly detect the presence of the peptides corresponding to either version from tooth enamel samples.