The study of novel sequence alleles for Qatari population using ForenSeqTM DNA kit

Allele frequencies for 150 samples of Qatari population were calculated using ForenSeq™ DNA Signature kit. All loci were highly polymorphic as expected. Tests for HWE were performed separately for Length-Based (LB) alleles for 27 auSTR loci in Qatari population. For autosomal loci, the LB (Length-Based) allele data showed departures from HWE expectations (p Pérez-Miranda A.M. Alfonso-Sánchez M.A. Peña J.A. Herrera R.J. Qatari DNA variation at a crossroad of human migrations.].The statistical calculations for auSTRs, iSNPs, and aSNPs were done using GenAlEx 6.5 and Strait Razor V3. These results showed that the Qatari population had high observed and expected heterozygosity. For X-STRs (LB), analysis of DXS10074 shows the highest number of alleles 7, 13, 16 and 20. All other X STRs had only two loci. The data showed that most frequencies were above 0.5 indicating the forensic value of the markers. auSTR and iSNP RMPs for both length match probability and sequence match probabilities were calculated using STRait Razor software (Supplementary material). For auSTRs, these values were 2.21 × 10-31 and 1.29 × 10-35. For iSNPs, these were 9.5 × 10-38 and 8.7 × 10-41 (Fig 2- Supplementary). The data showed that there was an increase of RMP for all auSTR markers except eight au STRs. These were D12S391, D18S51, D1S1656, D2S1338. In contrast, Penta E showed a quite low increase due to minimal increases even with the SB alleles [Rockenbauer E. Hansen S. Mikkelsen M. Børsting C. Morling N. Characterization of mutations and sequence variants in the D21S11 locus by next generation sequencing.]. Surprisingly these loci include FGA, which is included in all commercial kits due to its high discrimination potential. Four loci D17S1301, D22S1358, D2S441, D4S2408, and D5S818 showed the greatest increased in RMP when SB alleles were included. The iSNPs RMPs were calculated and the average single-locus RMP value was between 0.471 and 0.131 arranged from 0.375 (rs10776839) to 0.909 (rs2056277) (Fig 2- Supplementary). Loci rs2056277, rs722098, rs97118 and rs938283 showed the highest increases in RMP due to the inclusion of SB alleles in the Qatari populations. Locus rs2056277 was previously reported by Poulsen et al. (2011) to be relatively uninformative for identity testing purposes. The iSNP full profile RMP was calculated to be 1.08 × 10−32. STRait Razor was used to generate the combined MPs for auSTRs and iSNPs and the combined match probabilities for LB and LB + SB alleles were 2.9 × 10−68 and 1.12 × 10−75.

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