Length and repeat-sequence variation in 58 STRs and 94 SNPs in two Spanish populations. (September 2017)

• Record Type: Journal Article
• Authors: Casals, Ferran; Anglada, Roger; Bonet, Núria; Rasal, Raquel; van der Gaag, Kristiaan J.; Hoogenboom, Jerry; Solé-Morata, Neus; Comas, David; Calafell, Francesc
• Is Part Of: Forensic science international. Volume 30(2017)
• Page Start: 66
• Page End: 70
• Publication Date: 2017-09
• Subjects: Massive parallel sequencing -- Repeat sequence-based alleles -- Roma -- Catalans; Forensic genetics -- Periodicals; Génétique légale -- Périodiques; Forensic genetics; Electronic journals; Periodicals; 614.1
• DOI: 10.1016/j.fsigen.2017.06.006
• Languages: English
• ISSNs: 1872-4973

Abstract

Highlights: We genotyped the Illumina ForenSeq™ Primer Mix A in 88 Spanish Roma and 143 Catalans. The repeat region sequence is much more informative than allele length for many loci. Overall informativeness is extremely high. A systematic yet concise nomenclature for sequence-based alleles is needed. Abstract: We have genotyped the 58 STRs (27 autosomal, 24 Y-STRs and 7 X-STRs) and 94 autosomal SNPs in Illumina ForenSeq™ Primer Mix A in 88 Spanish Roma (Gypsy) samples and 143 Catalans. Since this platform is based in massive parallel sequencing, we have used simple R scripts to uncover the sequence variation in the repeat region. Thus, we have found, across 58 STRs, 541 length-based alleles, which, after considering repeat-sequence variation, became 804 different alleles. All loci in both populations were in Hardy-Weinberg equilibrium. FST between both populations was 0.0178 for autosomal SNPs, 0.0146 for autosomal STRs, 0.0101 for X-STRs and 0.1866 for Y-STRs. Combined a priori statistics showed quite large; for instance, pooling all the autosomal loci, the a priori probabilities of discriminating a suspect become 1 − (2.3 × 10 −70 ) and 1 − (5.9 × 10 −73 ), for Roma and Catalans respectively, and the chances of excluding a false father in a trio are 1 − (2.6 × 10 −20 ) and 1 − (2.0 × 10 −21 ).