Please use this identifier to cite or link to this item:
https://open.uns.ac.rs/handle/123456789/221
DC Field | Value | Language |
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dc.contributor.author | Čokić V. | en_US |
dc.contributor.author | Kecmanović M. | en_US |
dc.contributor.author | Zgonjanin-Bosić, Dragana | en_US |
dc.contributor.author | Jakovski Z. | en_US |
dc.contributor.author | Veljković , A. | en_US |
dc.contributor.author | Katić, S. | en_US |
dc.contributor.author | Keckarević Marković M. | en_US |
dc.contributor.author | Keckarević D. | en_US |
dc.date.accessioned | 2019-09-23T10:05:11Z | - |
dc.date.available | 2019-09-23T10:05:11Z | - |
dc.date.issued | 2019-07-01 | - |
dc.identifier.issn | 18724973 | en_US |
dc.identifier.uri | https://open.uns.ac.rs/handle/123456789/221 | - |
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 |
dc.relation.ispartof | Forensic Science International: Genetics | en |
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 | Journal/Magazine Article | en_US |
dc.identifier.doi | 10.1016/j.fsigen.2019.04.007 | - |
dc.identifier.pmid | 41 | - |
dc.identifier.scopus | 2-s2.0-85065403517 | - |
dc.identifier.url | https://api.elsevier.com/content/abstract/scopus_id/85065403517 | - |
dc.description.version | Unknown | en_US |
dc.relation.lastpage | 144 | en |
dc.relation.firstpage | 137 | en |
dc.relation.volume | 41 | en |
item.fulltext | No Fulltext | - |
item.grantfulltext | none | - |
crisitem.author.dept | Medicinski fakultet | - |
crisitem.author.parentorg | Univerzitet u Novom Sadu | - |
Appears in Collections: | MDF Publikacije/Publications |
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