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https://biore.bio.bg.ac.rs/handle/123456789/2172
DC Field | Value | Language |
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dc.contributor.author | Čokić, Vladan P. | en_US |
dc.contributor.author | Kecmanović, Miljana | en_US |
dc.contributor.author | Zgonjanin Bosić, Dragana | en_US |
dc.contributor.author | Jakovski, Zlatko | en_US |
dc.contributor.author | Veljković, Aleksandar | en_US |
dc.contributor.author | Katić, Srdjan | en_US |
dc.contributor.author | Keckarević Marković, Milica | en_US |
dc.contributor.author | Keckarević, Dušan | en_US |
dc.date.accessioned | 2019-10-22T19:16:45Z | - |
dc.date.available | 2019-10-22T19:16:45Z | - |
dc.date.issued | 2019-07 | - |
dc.identifier.issn | 1872-4973 | - |
dc.identifier.uri | https://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.iso | en | en_US |
dc.relation.ispartof | Forensic Science International: Genetics | en_US |
dc.subject | Deep-Rooted pedigree | en_US |
dc.subject | Male relative differentiation | en_US |
dc.subject | Mutation rate | en_US |
dc.subject | Y-STR | en_US |
dc.title | A comprehensive mutation study in wide deep-rooted R1b Serbian pedigree: mutation rates and male relative differentiation capacity of 36 Y-STR markers | en_US |
dc.type | Article | en_US |
dc.identifier.doi | 10.1016/j.fsigen.2019.04.007 | - |
dc.identifier.pmid | 31082622 | - |
dc.identifier.scopus | 2-s2.0-85065403517 | - |
dc.identifier.url | https://api.elsevier.com/content/abstract/scopus_id/85065403517 | - |
dc.description.rank | M21a | - |
dc.description.impact | 5.637 | - |
item.languageiso639-1 | en | - |
item.cerifentitytype | Publications | - |
item.openairetype | Article | - |
item.fulltext | With Fulltext | - |
item.grantfulltext | restricted | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
crisitem.author.dept | Chair of Biochemistry and Molecular Biology | - |
crisitem.author.dept | Chair of Biochemistry and Molecular Biology | - |
crisitem.author.dept | Chair of Biochemistry and Molecular Biology | - |
crisitem.author.orcid | 0000-0002-0182-8817 | - |
crisitem.author.orcid | 0000-0001-9866-9439 | - |
crisitem.author.orcid | 0000-0003-2446-7177 | - |
Appears in Collections: | Journal Article |
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File | Description | Size | Format | Existing users please |
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Kecmanovic et al. 2019 Forensic Science International Genetics.pdf | 1.85 MB | Adobe PDF | Request a copy |
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