Mutation rates of 22 autosomal STR LOCI in a European population from central Balkan, Republic of Serbia
Autori
Garai, NemanjaPešović, Jovan
Dobrijević, Zoran
Brkušanin, Miloš
Matijašević Joković, Suzana
Radenković, Lana
Radovanović, Nemanja
Karanović, Jelena
Brajušković, Goran
Savić-Pavićević, Dušanka
Konferencijski prilog (Objavljena verzija)
Metapodaci
Prikaz svih podataka o dokumentuApstrakt
Analysis of short tandem repeats (STRs) is a tool for human DNA identification, including paternity
and criminal investigations. Locus-specific STR mutation rates are critical for interpretation of DNA
identification in practice. Accumulating evidence suggests that STR mutation rates are populationspecific.
However, STR mutation rates based on trios have not been analyzed in European population
yet. In this study, mutation rates of 20 CODIS and two additional autosomal STR loci (Penta E and
Penta D) were determined from 1279 cases of paternity testing in the Serbian population, and the
relationships between STR mutation rates and sex, allele length, and heterozygosity were investigated.
A total of 63 mutations were observed at 18 loci in a total of 28278 allele transmissions, including 62
(98.4%) single-step and 1 (1.6%) two-step mutations. The average mutation rate was 1.7×10-3 (95%
CI: 1.3-2.3×10-3), whereas locus-specific mutation rates ranged from 5.6×10-3 (D12S391) to 0.6...×10-3
(D2S1338, D5S818, and D21S11). No mutation was observed at the TPOX, TH01, D16S539, and
D22S1045 loci. The mutation rate of paternal origin (2.4×10-3) was eight times higher than that of
maternal origin (0.3×10-3), and long alleles mutated more frequently than short and medium alleles
(χ2=4.436 and χ2=4.646, respectively, p<0.05). No differences were found when analyzing overall
expansion versus contraction (χ2=0.999, p=0.317). Among short alleles two expansions and no
contraction were detected, while among long ones three expansions and nine contractions were
observed. Furthermore, we found no correlation between locus-specific mutation rates and
corresponding heterozygosity (rs=-0.188, p=0.559). Comparisons between populations revealed
statistically significant differences in locus-specific mutation rates of 13 CODIS STRs between Serbian
population and Chinese or Brazilian. Our results show that STR mutation rates depend on sex, allele
size and population, and provide useful data on STR mutation rate based on trios for human DNA
identification in European populations.
Ključne reči:
short tandem repeat (STR) / mutation rate / paternity testing / DNA identification / population dataIzvor:
Genetics & Applications, 2023, 78-78Izdavač:
- Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo
Napomena:
- Book of abstracts: International Conference of Biochemists and Molecular Biologists in Bosnia and Herzegovina - ABMBBIH May, 2023
Institucija/grupa
Institut za molekularnu genetiku i genetičko inženjerstvoTY - CONF AU - Garai, Nemanja AU - Pešović, Jovan AU - Dobrijević, Zoran AU - Brkušanin, Miloš AU - Matijašević Joković, Suzana AU - Radenković, Lana AU - Radovanović, Nemanja AU - Karanović, Jelena AU - Brajušković, Goran AU - Savić-Pavićević, Dušanka PY - 2023 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/2218 AB - Analysis of short tandem repeats (STRs) is a tool for human DNA identification, including paternity and criminal investigations. Locus-specific STR mutation rates are critical for interpretation of DNA identification in practice. Accumulating evidence suggests that STR mutation rates are populationspecific. However, STR mutation rates based on trios have not been analyzed in European population yet. In this study, mutation rates of 20 CODIS and two additional autosomal STR loci (Penta E and Penta D) were determined from 1279 cases of paternity testing in the Serbian population, and the relationships between STR mutation rates and sex, allele length, and heterozygosity were investigated. A total of 63 mutations were observed at 18 loci in a total of 28278 allele transmissions, including 62 (98.4%) single-step and 1 (1.6%) two-step mutations. The average mutation rate was 1.7×10-3 (95% CI: 1.3-2.3×10-3), whereas locus-specific mutation rates ranged from 5.6×10-3 (D12S391) to 0.6×10-3 (D2S1338, D5S818, and D21S11). No mutation was observed at the TPOX, TH01, D16S539, and D22S1045 loci. The mutation rate of paternal origin (2.4×10-3) was eight times higher than that of maternal origin (0.3×10-3), and long alleles mutated more frequently than short and medium alleles (χ2=4.436 and χ2=4.646, respectively, p<0.05). No differences were found when analyzing overall expansion versus contraction (χ2=0.999, p=0.317). Among short alleles two expansions and no contraction were detected, while among long ones three expansions and nine contractions were observed. Furthermore, we found no correlation between locus-specific mutation rates and corresponding heterozygosity (rs=-0.188, p=0.559). Comparisons between populations revealed statistically significant differences in locus-specific mutation rates of 13 CODIS STRs between Serbian population and Chinese or Brazilian. Our results show that STR mutation rates depend on sex, allele size and population, and provide useful data on STR mutation rate based on trios for human DNA identification in European populations. PB - Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo C3 - Genetics & Applications T1 - Mutation rates of 22 autosomal STR LOCI in a European population from central Balkan, Republic of Serbia EP - 78 SP - 78 UR - https://hdl.handle.net/21.15107/rcub_imagine_2218 ER -
@conference{ author = "Garai, Nemanja and Pešović, Jovan and Dobrijević, Zoran and Brkušanin, Miloš and Matijašević Joković, Suzana and Radenković, Lana and Radovanović, Nemanja and Karanović, Jelena and Brajušković, Goran and Savić-Pavićević, Dušanka", year = "2023", abstract = "Analysis of short tandem repeats (STRs) is a tool for human DNA identification, including paternity and criminal investigations. Locus-specific STR mutation rates are critical for interpretation of DNA identification in practice. Accumulating evidence suggests that STR mutation rates are populationspecific. However, STR mutation rates based on trios have not been analyzed in European population yet. In this study, mutation rates of 20 CODIS and two additional autosomal STR loci (Penta E and Penta D) were determined from 1279 cases of paternity testing in the Serbian population, and the relationships between STR mutation rates and sex, allele length, and heterozygosity were investigated. A total of 63 mutations were observed at 18 loci in a total of 28278 allele transmissions, including 62 (98.4%) single-step and 1 (1.6%) two-step mutations. The average mutation rate was 1.7×10-3 (95% CI: 1.3-2.3×10-3), whereas locus-specific mutation rates ranged from 5.6×10-3 (D12S391) to 0.6×10-3 (D2S1338, D5S818, and D21S11). No mutation was observed at the TPOX, TH01, D16S539, and D22S1045 loci. The mutation rate of paternal origin (2.4×10-3) was eight times higher than that of maternal origin (0.3×10-3), and long alleles mutated more frequently than short and medium alleles (χ2=4.436 and χ2=4.646, respectively, p<0.05). No differences were found when analyzing overall expansion versus contraction (χ2=0.999, p=0.317). Among short alleles two expansions and no contraction were detected, while among long ones three expansions and nine contractions were observed. Furthermore, we found no correlation between locus-specific mutation rates and corresponding heterozygosity (rs=-0.188, p=0.559). Comparisons between populations revealed statistically significant differences in locus-specific mutation rates of 13 CODIS STRs between Serbian population and Chinese or Brazilian. Our results show that STR mutation rates depend on sex, allele size and population, and provide useful data on STR mutation rate based on trios for human DNA identification in European populations.", publisher = "Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo", journal = "Genetics & Applications", title = "Mutation rates of 22 autosomal STR LOCI in a European population from central Balkan, Republic of Serbia", pages = "78-78", url = "https://hdl.handle.net/21.15107/rcub_imagine_2218" }
Garai, N., Pešović, J., Dobrijević, Z., Brkušanin, M., Matijašević Joković, S., Radenković, L., Radovanović, N., Karanović, J., Brajušković, G.,& Savić-Pavićević, D.. (2023). Mutation rates of 22 autosomal STR LOCI in a European population from central Balkan, Republic of Serbia. in Genetics & Applications Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo., 78-78. https://hdl.handle.net/21.15107/rcub_imagine_2218
Garai N, Pešović J, Dobrijević Z, Brkušanin M, Matijašević Joković S, Radenković L, Radovanović N, Karanović J, Brajušković G, Savić-Pavićević D. Mutation rates of 22 autosomal STR LOCI in a European population from central Balkan, Republic of Serbia. in Genetics & Applications. 2023;:78-78. https://hdl.handle.net/21.15107/rcub_imagine_2218 .
Garai, Nemanja, Pešović, Jovan, Dobrijević, Zoran, Brkušanin, Miloš, Matijašević Joković, Suzana, Radenković, Lana, Radovanović, Nemanja, Karanović, Jelena, Brajušković, Goran, Savić-Pavićević, Dušanka, "Mutation rates of 22 autosomal STR LOCI in a European population from central Balkan, Republic of Serbia" in Genetics & Applications (2023):78-78, https://hdl.handle.net/21.15107/rcub_imagine_2218 .