Characterisation of variant alleles in the STR systems D2S1338, D3S1358 and D19S433

Abstract

We have observed three hitherto undescribed off-ladder alleles at three widely used STR loci. These were isolated, sequenced and designated as follows: allele 10 (D2S1338, one case), allele 21 (D3S1358, two cases) and allele 6.2 (D19S433, six cases). These sequences are described in comparison to non-variant alleles, and their implications for the semi-automated STR analysis will be discussed.

An evaluation of the PowerSeq™ Auto System: A multiplex short tandem repeat marker kit compatible with massively parallel sequencing

“…X axis are the alleles for a given locus, Y axis is the coverage for a given allele. [33], and Oberacher et al [34], described these same sequences. Supplemental Table 10 shows three scenarios of intra-repeat variations at the D8S1179, D2S441, D2S1338, and D21S11 loci.…”

Identification and sequence analysis of discordant phenotypes between AmpFlSTR SGM Plus™ and PowerPlex® 16

“…By changing the primer position, it could be possible that a different genotype (e.g., 11,13 vs 10,13) is obtained as has been reported by Drabek et al [33]. This also shows that sequence analysis of silent alleles, "off-ladder" alleles, and micro-variants is still necessary to reveal the molecular basis for the different alleles and to allow the design of alternative primer sets [34][35][36][37].…”

Meiosis study in a population sample from Nigeria: allele frequencies and mutation rates of 16 STR loci

“…Variant alleles and alleles from the mutation cases were isolated as described elsewhere [3] and directly sequenced using BigDye Terminator Cycle Sequencing Kit (ABI) with primers for both strands to check if the mutation had occurred in the repeat region.…”