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Sequence Variations of 31 Υ-Chromosomal Short Tandem Repeats Analyzed by Massively Parallel Sequencing in Three U.S. Population Groups and Korean Population

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dc.contributor.author신경진-
dc.date.accessioned2022-03-11T10:58:54Z-
dc.date.available2022-03-11T10:58:54Z-
dc.date.issued2022-02-
dc.identifier.issn1011-8934-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/188083-
dc.description.abstractBackground: Rapidly mutating (RM) Y-chromosomal short tandem repeats (Y-STRs) have been demonstrated to increase the possibility of distinguishing between male relatives due to a higher mutation rate than conventional Y-STRs. Massively parallel sequencing (MPS) can be useful for forensic DNA typing as it allows the detection of sequence variants of many forensic markers. Here, we present sequence variations of 31 Y-STRs including nine RM Y-STRs (DYF387S1, DYF399S1, DYF404S1, DYS449, DYS518, DYS570, DYS576, DYS612, and DYS627), their frequencies, distribution, and the gain in the number of alleles using MPS. Methods: We constructed a multiplex MPS assay capable of simultaneously amplifying 32 Y-chromosomal markers, producing amplicons ranging from 85-274 bp. Barcoded libraries from 220 unrelated males from four populations-African Americans, Caucasians, Hispanics, and Koreans-were generated via two-step polymerase chain reaction and sequenced on a MiSeq system. Genotype concordance between the capillary electrophoresis (CE) and MPS method and sequence variation of Y-STRs were investigated. Results: In total, 195 alleles were increased by MPS compared to CE-based alleles (261 to 456). The DYS518 marker showed the largest increase due to repeat region variation (a 3.69-fold increase). The highest increase in the number of alleles due to single nucleotide polymorphisms in the flanking region was found in DYF399S1. RM Y-STRs had more diverse sequences than conventional Y-STRs. Furthermore, null alleles were observed in DYS576 due to primer-binding site mutation, and allele drop-outs in DYS449 resulted from low marker coverage of less than the threshold. Conclusion: The results suggest that the expanded and discriminative MPS assay could provide more genetic information for Y-STRs, especially for RM Y-STRs, and could advance male individualization. Compiling sequence-based Y-STR data for worldwide populations would facilitate the application of MPS in the field of forensic genetics and could be applicable in solving male-related forensic cases.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisher대한의학회(The Korean Academy of Medical Sciences)-
dc.relation.isPartOfJOURNAL OF KOREAN MEDICAL SCIENCE-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.titleSequence Variations of 31 Υ-Chromosomal Short Tandem Repeats Analyzed by Massively Parallel Sequencing in Three U.S. Population Groups and Korean Population-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Forensic Medicine (법의학과)-
dc.contributor.googleauthorMi Hyeon Moon-
dc.contributor.googleauthorSae Rom Hong-
dc.contributor.googleauthorKyoung-Jin Shin-
dc.identifier.doi10.3346/jkms.2022.37.e40-
dc.contributor.localIdA02085-
dc.relation.journalcodeJ01517-
dc.identifier.eissn1598-6357-
dc.identifier.pmid35166077-
dc.subject.keywordMassively Parallel Sequencing-
dc.subject.keywordRM Y-STR-
dc.subject.keywordSequence Variation-
dc.subject.keywordY-STR-
dc.contributor.alternativeNameShin, Kyoung Jin-
dc.contributor.affiliatedAuthor신경진-
dc.citation.volume37-
dc.citation.number6-
dc.citation.startPagee40-
dc.identifier.bibliographicCitationJOURNAL OF KOREAN MEDICAL SCIENCE, Vol.37(6) : e40, 2022-02-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Forensic Medicine (법의학과) > 1. Journal Papers

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