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Investigation into the sequence structure of 23 Y chromosomal STR loci using massively parallel sequencing

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dc.contributor.author신경진-
dc.contributor.author이은영-
dc.contributor.author이환영-
dc.date.accessioned2017-10-26T07:44:10Z-
dc.date.available2017-10-26T07:44:10Z-
dc.date.issued2016-
dc.identifier.issn1872-4973-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/152446-
dc.description.abstractNext-generation sequencing (NGS) can produce massively parallel sequencing (MPS) data for many targeted regions with a high depth of coverage, suggesting its successful application to the amplicons of forensic genetic markers. In the present study, we evaluated the practical utility of MPS in Y-chromosome short tandem repeat (Y-STR) analysis using a multiplex polymerase chain reaction (PCR) system. The multiplex PCR system simultaneously amplified 24 Y-chromosomal markers, including the PowerPlex® Y23 loci (DYS19, DYS385ab, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS481, DYS533, DYS549, DYS570, DYS576, DYS635, DYS643, and YGATAH4) and the M175 marker with the small-sized amplicons ranging from 85 to 253bp. The barcoded libraries for the amplicons of the 24 Y-chromosomal markers were produced using a simplified PCR-based library preparation method and successfully sequenced using MPS on a MiSeq® System with samples from 250 unrelated Korean males. The genotyping concordance between MPS and the capillary electrophoresis (CE) method, as well as the sequence structure of the 23 Y-STRs, were investigated. Three samples exhibited discordance between the MPS and CE results at DYS385, DYS439, and DYS576. There were 12 Y-STR loci that showed sequence variations in the alleles by a fragment size determination, and the most varied alleles occurred in DYS389II with a different sequence structure in the repeat region. The largest increase in gene diversity between the CE and MPS results was in DYS437 at +34.41%. Single nucleotide polymorphisms (SNPs), insertions, and deletions (indels) were observed in the flanking regions of DYS481, DYS576, and DYS385, respectively. Stutter and noise ratios of the 23 Y-STRs using the developed MPS system were also investigated. Based on these results, the MPS analysis system used in this study could facilitate the investigation into the sequences of the 23 Y-STRs in forensic genetics laboratories.-
dc.description.statementOfResponsibilityrestriction-
dc.languageEnglish-
dc.publisherElsevier-
dc.relation.isPartOfFORENSIC SCIENCE INTERNATIONAL-GENETICS-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAlleles-
dc.subject.MESHAsian Continental Ancestry Group/genetics-
dc.subject.MESHChromosomes, Human, Y*-
dc.subject.MESHDNA Fingerprinting*-
dc.subject.MESHElectrophoresis, Capillary-
dc.subject.MESHGenetic Markers-
dc.subject.MESHHigh-Throughput Nucleotide Sequencing*-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMicrosatellite Repeats*-
dc.subject.MESHMultiplex Polymerase Chain Reaction-
dc.subject.MESHPolymorphism, Single Nucleotide-
dc.subject.MESHRepublic of Korea-
dc.titleInvestigation into the sequence structure of 23 Y chromosomal STR loci using massively parallel sequencing-
dc.typeArticle-
dc.publisher.locationNetherlands-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Forensic Medicine-
dc.contributor.googleauthorSo Yeun Kwon-
dc.contributor.googleauthorHwan Young Lee-
dc.contributor.googleauthorEun Hye Kim-
dc.contributor.googleauthorEun Young Lee-
dc.contributor.googleauthorKyoung-Jin Shin-
dc.identifier.doi10.1016/j.fsigen.2016.08.010-
dc.contributor.localIdA03041-
dc.contributor.localIdA03335-
dc.contributor.localIdA02085-
dc.relation.journalcodeJ00905-
dc.identifier.eissn1878-0326-
dc.identifier.pmid27591816-
dc.identifier.urlhttp://www.sciencedirect.com/science/article/pii/S1872497316301624?via%3Dihub-
dc.subject.keywordGene diversity-
dc.subject.keywordMassively parallel sequencing-
dc.subject.keywordNoise-
dc.subject.keywordSequence variation-
dc.subject.keywordStutter-
dc.subject.keywordY-SNP-
dc.subject.keywordY-STR-
dc.contributor.alternativeNameShin, Kyoung Jin-
dc.contributor.alternativeNameLee, Eun Young-
dc.contributor.alternativeNameLee, Hwan Young-
dc.contributor.affiliatedAuthorLee, Eun Young-
dc.contributor.affiliatedAuthorLee, Hwan Young-
dc.contributor.affiliatedAuthorShin, Kyoung Jin-
dc.citation.volume25-
dc.citation.startPage132-
dc.citation.endPage141-
dc.identifier.bibliographicCitationFORENSIC SCIENCE INTERNATIONAL-GENETICS, Vol.25 : 132-141, 2016-
dc.date.modified2017-10-24-
dc.identifier.rimsid48651-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Forensic Medicine (법의학과) > 1. Journal Papers

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