Please use this identifier to cite or link to this item: https://biore.bio.bg.ac.rs/handle/123456789/2172
Title: A comprehensive mutation study in wide deep-rooted R1b Serbian pedigree: mutation rates and male relative differentiation capacity of 36 Y-STR markers
Authors: Čokić, Vladan P.
Kecmanović, Miljana 
Zgonjanin Bosić, Dragana
Jakovski, Zlatko
Veljković, Aleksandar
Katić, Srdjan
Keckarević Marković, Milica 
Keckarević, Dušan 
Keywords: Deep-Rooted pedigree;Male relative differentiation;Mutation rate;Y-STR
Issue Date: Jul-2019
Rank: M21a
Journal: Forensic Science International: Genetics
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).
URI: https://biore.bio.bg.ac.rs/handle/123456789/2172
ISSN: 1872-4973
DOI: 10.1016/j.fsigen.2019.04.007
Appears in Collections:Journal Article

Files in This Item:
File Description SizeFormat Existing users please
Kecmanovic et al. 2019 Forensic Science International Genetics.pdf1.85 MBAdobe PDF
    Request a copy
Show full item record

SCOPUSTM   
Citations

10
checked on Nov 17, 2024

Page view(s)

10
checked on Nov 20, 2024

Google ScholarTM

Check

Altmetric

Altmetric


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.