Abstract (EN):
A multiplex STR study using the Powerplex 16 System (Promega) in 503 unrelated individuals from the island of São Tomé (Gulf of Guinea, West Africa) revealed 10 male individuals presenting only the Y homologue of the Amelogenin locus (~ 2%). These individuals were further typed with other commercial kits which also amplify the Amelogenin locus, namely the AmpFLSTR Identifiler (Applied Biosystems) and Y-Plex 12 (Reliagene) kits, and an X/Y genotype was only obtained with the primers used in Y-Plex 12. Although this X Amelogenin drop-out was only detected in males, this does not rule out the fact that females may also carry it. Sequencing of the X Amelogenin allele responsible for the amplification failure in these male individuals revealed a C to T substitution at position 294 of GeneBank sequence M55418, corresponding to the Powerplex 16 forward primer binding site.
Language:
English
Type (Professor's evaluation):
Scientific
No. of pages:
3