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Collaborative genetic mapping of 12 forensic short tandem repeat (STR) loci on the human X chromosome

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dc.contributor.author신경진-
dc.contributor.author심정은-
dc.date.accessioned2014-12-19T16:50:32Z-
dc.date.available2014-12-19T16:50:32Z-
dc.date.issued2012-
dc.identifier.issn1872-4973-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/90297-
dc.description.abstractA large number of short tandem repeat (STR) markers spanning the entire human X chromosome have been described and established for use in forensic genetic testing. Due to their particular mode of inheritance, X-STRs often allow easy and informative haplotyping in kinship analyses. Moreover, some X-STRs are known to be tightly linked so that, in combination, they constitute even more complex genetic markers than each STR taken individually. As a consequence, X-STRs have proven particularly powerful in solving complex cases of disputed blood relatedness. However, valid quantification of the evidence provided by X-STR genotypes in the form of likelihood ratios requires that the recombination rates between markers are exactly known. In a collaborative family study, we used X-STR genotype data from 401 two- and three-generation families to derive valid estimates of the recombination rates between 12 forensic markers widely used in forensic testing, namely DXS10148, DXS10135, DXS8378 (together constituting linkage group I), DXS7132, DXS10079, DXS10074 (linkage group II), DXS10103, HPRTB, DXS10101 (linkage group III), DXS10146, DXS10134 and DXS7423 (linkage group IV). Our study is the first to simultaneously allow for mutation and recombination in the underlying likelihood calculations, thereby obviating the bias-prone practice of excluding ambiguous transmission events from further consideration. The statistical analysis confirms that linkage groups I and II are transmitted independently from one another whereas linkage groups II, III and IV are characterised by inter-group recombination fractions that are notably smaller than 50%. Evidence was also found for recombination within all four linkage groups, with recombination fraction estimates ranging as high as 2% in the case of DXS10146 and DXS10134.-
dc.description.statementOfResponsibilityopen-
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.MESHChromosome Mapping/methods*-
dc.subject.MESHChromosomes, Human, X*-
dc.subject.MESHDNA Fingerprinting/methods*-
dc.subject.MESHGenetic Loci*-
dc.subject.MESHGenotype-
dc.subject.MESHHaplotypes-
dc.subject.MESHHumans-
dc.subject.MESHLikelihood Functions-
dc.subject.MESHMicrosatellite Repeats*-
dc.subject.MESHMultiplex Polymerase Chain Reaction-
dc.titleCollaborative genetic mapping of 12 forensic short tandem repeat (STR) loci on the human X chromosome-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Forensic Medicine (법의학)-
dc.contributor.googleauthorMichael Nothnagel-
dc.contributor.googleauthorReinhard Szibor-
dc.contributor.googleauthorOliver Vollrath-
dc.contributor.googleauthorChrista Augustin-
dc.contributor.googleauthorJeanett Edelmann-
dc.contributor.googleauthorMaria Geppert-
dc.contributor.googleauthorCíntia Alves-
dc.contributor.googleauthorLeonor Gusmão-
dc.contributor.googleauthorMarielle Vennemann-
dc.contributor.googleauthorYiping Hou-
dc.contributor.googleauthorUta-Dorothee Immel-
dc.contributor.googleauthorSerena Inturri-
dc.contributor.googleauthorHaibo Luo-
dc.contributor.googleauthorSabine Lutz-Bonengel-
dc.contributor.googleauthorCarlo Robino-
dc.contributor.googleauthorLutz Roewer-
dc.contributor.googleauthorBurkhard Rolf-
dc.contributor.googleauthorJuliane Sanft-
dc.contributor.googleauthorKyoung-Jin Shin-
dc.contributor.googleauthorJeong Eun Sim-
dc.contributor.googleauthorPeter Wiegand-
dc.contributor.googleauthorChristian Winkler-
dc.contributor.googleauthorMichael Krawczak-
dc.contributor.googleauthorSandra Hering-
dc.identifier.doi22459949-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA02085-
dc.contributor.localIdA02210-
dc.relation.journalcodeJ00905-
dc.identifier.eissn1878-0326-
dc.identifier.pmid22459949-
dc.identifier.urlhttp://www.sciencedirect.com/science/article/pii/S1872497312000713-
dc.subject.keywordX chromosome-
dc.subject.keywordHaplotyping-
dc.subject.keywordRecombination-
dc.subject.keywordSTR-
dc.subject.keywordKinship testing-
dc.contributor.alternativeNameShin, Kyoung Jin-
dc.contributor.alternativeNameSim, Jeong Eun-
dc.contributor.affiliatedAuthorShin, Kyoung Jin-
dc.contributor.affiliatedAuthorSim, Jeong Eun-
dc.citation.volume6-
dc.citation.number6-
dc.citation.startPage778-
dc.citation.endPage784-
dc.identifier.bibliographicCitationFORENSIC SCIENCE INTERNATIONAL-GENETICS, Vol.6(6) : 778-784, 2012-
dc.identifier.rimsid34125-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Forensic Medicine (법의학과) > 1. Journal Papers

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