Identification of more sequence variations in the D8S1179 locus

Abstract

Routine STR-typing of 10,293 buccal swabs using different multiplex kits presented discordant D8S1179 profiles in four cases. Sequencing analysis identified a G-to-A transition upstream to the repeat, and an A-to-T transversion and a G-to-A transition downstream to the repeat. In the fourth case a four-base pair deletion downstream resulted in altered genotypes using different primer pairs. Current searching algorithms of the German DNA database are not capable of matching profiles that are divergent in only one STR-locus. Thus, to accommodate matching requirements and to avoid errors in individual genetic characterization for D8S1179, as described here, it is suggested that alternative primer pairs be used for routine genotyping as a matter of course.