Please use this identifier to cite or link to this item: https://biore.bio.bg.ac.rs/handle/123456789/2172
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dc.contributor.authorČokić, Vladan P.en_US
dc.contributor.authorKecmanović, Miljanaen_US
dc.contributor.authorZgonjanin Bosić, Draganaen_US
dc.contributor.authorJakovski, Zlatkoen_US
dc.contributor.authorVeljković, Aleksandaren_US
dc.contributor.authorKatić, Srdjanen_US
dc.contributor.authorKeckarević Marković, Milicaen_US
dc.contributor.authorKeckarević, Dušanen_US
dc.date.accessioned2019-10-22T19:16:45Z-
dc.date.available2019-10-22T19:16:45Z-
dc.date.issued2019-07-
dc.identifier.issn1872-4973-
dc.identifier.urihttps://biore.bio.bg.ac.rs/handle/123456789/2172-
dc.description.abstract© 2019 Elsevier B.V. Haplotyping of Y-chromosomal short tandem repeats (Y-STRs) reflects the paternal lineage, although, the father-son pair profiles may differ due to the germline mutations. In order to discriminate between closely related males in criminal cases, as well as for the correct application of Y-STRs in the paternity/kinship analysis and determination of the most recent common ancestor in the familial searching or genealogy research, the assessment of mutation rates of routinely used Y-STRs is of a great importance. We genotyped 120 males belonging to one wide deep-rooted pedigree separated by 1–20 meiosis. The haplotypes of analyzed males distributed over 12 different families (according to their surnames), with 113 originating from one ancestor, and the remaining 7 from the second, closely related to the previous one, belong to the R1b haplogroup. The analysis was performed using Powerplex® Y23 kit, Yfiler™ plus kit and 13 rapidly mutating (RM13) Y-STRs. In 20,855 allele transmissions, 175 mutations (61% repeat losses and 39% gains) and one gene conversion event were found at 25 out of 36 markers. The medians of locus-specific mutation rates estimated using the Bayesian approach ranged from 1.42 × 10−3 (95% credible interval (CI): 0.05 × 10−3 - 7.56 × 10−3) for loci with no observed mutations to 130.91 × 10−3 (95% CI: 102.91 × 10−3 - 162.78 × 10−3) for DYF399S1, with a median rate across all 36 markers of 10.06 × 10−3 (95% CI: 8.65 × 10−3 - 11.61 × 10−3). In 6349 male relative pairs, the 36 Y-STR set distinguished 98.4% relative pairs by at least one mutation, compared to 95.9%, 65.5% and 57.4% for RM13, Yfiler™ plus, and Powerplex® Y23 set, respectively. The extra-pair paternity rate was estimated at 11.9 × 10−3 (95% CI: 4.4 × 10−3 – 25.8 × 10−3) fitting within the range reported for some European populations. A significant positive correlation was observed between fathers’ ages at the time of the Y chromosome transmission and mutability rates (R2 = 0.9495, p = 0.0256), with more significant results when analyzing RM markers (R2 = 0.9827, p = 0.0087).en_US
dc.language.isoenen_US
dc.relation.ispartofForensic Science International: Geneticsen_US
dc.subjectDeep-Rooted pedigreeen_US
dc.subjectMale relative differentiationen_US
dc.subjectMutation rateen_US
dc.subjectY-STRen_US
dc.titleA comprehensive mutation study in wide deep-rooted R1b Serbian pedigree: mutation rates and male relative differentiation capacity of 36 Y-STR markersen_US
dc.typeArticleen_US
dc.identifier.doi10.1016/j.fsigen.2019.04.007-
dc.identifier.pmid31082622-
dc.identifier.scopus2-s2.0-85065403517-
dc.identifier.urlhttps://api.elsevier.com/content/abstract/scopus_id/85065403517-
dc.description.rankM21a-
dc.description.impact5.637-
item.languageiso639-1en-
item.cerifentitytypePublications-
item.openairetypeArticle-
item.fulltextWith Fulltext-
item.grantfulltextrestricted-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.author.deptChair of Biochemistry and Molecular Biology-
crisitem.author.deptChair of Biochemistry and Molecular Biology-
crisitem.author.deptChair of Biochemistry and Molecular Biology-
crisitem.author.orcid0000-0002-0182-8817-
crisitem.author.orcid0000-0001-9866-9439-
crisitem.author.orcid0000-0003-2446-7177-
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