A rare mutation in the primer binding region of the Amelogenin X homologue gene

Use of Amelogenin locus typing as a gender marker incorporated in STR multiplexes is common practice in forensic genetics analysis. Among 5534 Polish male individuals tested using the SGMPlus kit, one was found to lack the amelogenin X-specific homologue (0.02%). The same result was obtained with other commercial kits which also amplify the amelogenin locus, namely ProfilerPlus and PowerPlex16. When alternative amelogenin primers external to but encompassing the initial amplicon were applied, an X homologue product was seen. Sequencing of the X homologue amelogenin allele revealed C to G mutation located at the most 3′ base of the commonly used amelogenin reverse primer. To our knowledge, this mutation and failure to amplify the X homologue of the amelogenin gene has not been reported for the European population.