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New sequence variants detected at DXS10148, DXS10074 and DXS10134 loci

2016Journal article Open access
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dc.contributor.authorGomes, Iva
dc.contributor.authorBrehm, António
dc.contributor.authorGusmão, Leonor
dc.contributor.authorSchneider, Peter M.
dc.date.accessioned2020-11-13T15:47:09Z
dc.date.available2020-11-13T15:47:09Z
dc.date.issued2016
dc.description.abstractA great amount of population and forensic genetic data are available for X-STRs supporting the need for having a common and accurate nomenclature among laboratories allowing for better communication, data exchange, and data comparison. DXS10148, DXS10074 and DXS10134 are commonly used X-STRs particularly due to their inclusion in the commercial kit Investigator Argus X-12 (Qiagen). Samples from West Africa and Iraq were sequenced for all three X-STRs allowing the detection of new DNA sequence variants. At DXS10148, variation was detected at four bases downstream from the flanking region from the repeat motif. The sequence AAGG-AAAG has been detected for the first time as a varying (AAGGAAAG)1–3 motif, in the present work. One additional string when compared to the common one (AAGGAAAG)2 adds eight bases to the fragment size of the tetranucleotide STR. This means that 2 repeats are added in these cases to the fragment size of the allele, while the presence of only one copy will reduce the expected allele size by 2 repeats. At DXS10074 two varying stretches consisting of AC and AG dinucleotide repeats were observed in the upstream flanking region, six bases from the main repeat core that also influence the expected allele size. DXS10134 revealed a simpler nomenclature in the Guinea-Bissau sample set when compared to the previously described allele nomenclature. This detected new hidden variation also has impact on the actual allele nomenclature at this locus as it contributes to a new class of short alleles so far undetected in other studies.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationGomes, I., Brehm, A., Gusmão, L., & Schneider, P. M. (2016). New sequence variants detected at DXS10148, DXS10074 and DXS10134 loci. Forensic Science International: Genetics, 20, 112-116.pt_PT
dc.identifier.doi10.1016/j.fsigen.2015.10.005pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.13/2980
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherInternational Society for Forensic Genetics (ISFG)pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectInvestigator Argus X-12pt_PT
dc.subjectX-STRspt_PT
dc.subjectX chromosomept_PT
dc.subjectWest Africapt_PT
dc.subjectIraqpt_PT
dc.subjectGuinea-Bissaupt_PT
dc.subject.pt_PT
dc.subjectFaculdade de Ciências da Vidapt_PT
dc.titleNew sequence variants detected at DXS10148, DXS10074 and DXS10134 locipt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage116pt_PT
oaire.citation.startPage112pt_PT
oaire.citation.titleForensic Science International: Geneticspt_PT
oaire.citation.volume20pt_PT
person.familyNameBrehm
person.givenNameAntonio
person.identifier.ciencia-id3613-8D1F-0EDF
person.identifier.orcid0000-0003-3168-5340
person.identifier.scopus-author-idAuthor ID 7006085833
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication62d279e2-247a-4652-a370-3e8c2a846e31
relation.isAuthorOfPublication.latestForDiscovery62d279e2-247a-4652-a370-3e8c2a846e31

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