Length and repeat-sequence variation in 58 STRs and 94 SNPs in two Spanish populations

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 variat...

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Detalles Bibliográficos
Autores: Casals López, Ferran, Anglada Busquets, Roger, Bonet, Núria, Rasal Soteras, Raquel, van der Gaag, Kristiaan J., Hoogenboom, Jerry, Solé Morata, Neus, 1988-, Comas, David, 1969-, Calafell i Majó, Francesc
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2017
País:España
Institución:Universitat Pompeu Fabra
Repositorio:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/32467
Acceso en línea:http://hdl.handle.net/10230/32467
http://dx.doi.org/10.1016/j.fsigen.2017.06.006
Access Level:acceso abierto
Palabra clave:Massive parallel sequencing
Repeat sequence-based alleles
Roma
Catalans
Descripción
Sumario: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).