TY - JOUR

T1 - Paternal and maternal mutations in X-STRs: a GHEP-ISFG collaborative study

AU - Pinto, Nádia

AU - Pereira, Vania

AU - Tomas Mas, Carmen

AU - Loiola, Silvia

AU - Carvalho, Elizeu F

AU - Modesti, Nidia

AU - Maxzud, Mariana

AU - Marcucci, Valeria

AU - Cano, Hortensia

AU - Cicarelli, Regina

AU - Januario, Bianca

AU - Bento, Ana

AU - Brito, Pedro

AU - Burgos, Gérman

AU - Paz-Cruz, Elius

AU - Díez-Juárez, Laura

AU - Vannelli, Silvia

AU - Pontes, Maria de Lourdes

AU - Berardi, Gabriela

AU - Furfuro, Sandra

AU - Fernandez, Alberto

AU - Sumita, Denilce

AU - Bobillo, Cecilia

AU - García, Maria Gabriela

AU - Gusmão, Leonor

PY - 2020

Y1 - 2020

N2 - The GHEP-ISFG organized a collaborative study to estimate mutation rates for the markers included in theInvestigator Argus X-12 QS kit Qiagen. A total of 16 laboratories gathered data from 1,612 father/mother/daughter trios, which were used to estimate both maternal and paternal mutation rates, when pooled togetherwith other already published data. Data on fathers and mothers’ age at the time of birth of the daughter were alsoavailable for ∼93 % of the cases. Population analyses were computed considering the genetic information of asubset of 1,327 unrelated daughters, corresponding to 2,654 haplotypes from residents in several regions of fivecountries: Argentina, Brazil, Ecuador, Portugal and Spain. Genetic differentiation analyses between the populationsamples from the same country did not reveal signs of significant stratification, although results fromHardy-Weinberg and linkage disequilibrium tests indicated the need of larger studies for Ecuador and Brazilianpopulations. The high genetic diversity of the markers resulted in a large number of haplotype combinations,showing the need of huge databases for reliable estimates of their frequencies.It should also be noted the high number of new alleles found, many of them not included in the allelic laddersprovided with the kit, as very diverse populations were analyzed. The overall estimates for locus specific averagemutation rates varied between 7.5E-04 (for DXS7423) and 1.1E-02 (for DXS10135), the latter being a troublesomefigure for kinship analyses. Most of the found mutations (∼92 %) are compatible with the gain or loss of a singlerepeat. Paternal mutation rates showed to be 5.2 times higher than maternal ones. We also found that older fatherswere more prone to transmit mutated alleles, having this trend not been observed in the case of the mothers.

AB - The GHEP-ISFG organized a collaborative study to estimate mutation rates for the markers included in theInvestigator Argus X-12 QS kit Qiagen. A total of 16 laboratories gathered data from 1,612 father/mother/daughter trios, which were used to estimate both maternal and paternal mutation rates, when pooled togetherwith other already published data. Data on fathers and mothers’ age at the time of birth of the daughter were alsoavailable for ∼93 % of the cases. Population analyses were computed considering the genetic information of asubset of 1,327 unrelated daughters, corresponding to 2,654 haplotypes from residents in several regions of fivecountries: Argentina, Brazil, Ecuador, Portugal and Spain. Genetic differentiation analyses between the populationsamples from the same country did not reveal signs of significant stratification, although results fromHardy-Weinberg and linkage disequilibrium tests indicated the need of larger studies for Ecuador and Brazilianpopulations. The high genetic diversity of the markers resulted in a large number of haplotype combinations,showing the need of huge databases for reliable estimates of their frequencies.It should also be noted the high number of new alleles found, many of them not included in the allelic laddersprovided with the kit, as very diverse populations were analyzed. The overall estimates for locus specific averagemutation rates varied between 7.5E-04 (for DXS7423) and 1.1E-02 (for DXS10135), the latter being a troublesomefigure for kinship analyses. Most of the found mutations (∼92 %) are compatible with the gain or loss of a singlerepeat. Paternal mutation rates showed to be 5.2 times higher than maternal ones. We also found that older fatherswere more prone to transmit mutated alleles, having this trend not been observed in the case of the mothers.

U2 - 10.1016/j.fsigen.2020.102258

DO - 10.1016/j.fsigen.2020.102258

M3 - Journal article

C2 - 32066109

VL - 46

JO - Forensic Science International: Genetics

JF - Forensic Science International: Genetics

SN - 1872-4973

M1 - 102258

ER -