Author(s):
Pinto, Nádia ; Pereira, Vânia ; Tomas, Carmen ; Loiola, Silvia ; Carvalho, Elizeu F. ; Modesti, Nidia ; Maxzud, Mariana ; Marcucci, Valeria ; Cano, Hortensia ; Cicarelli, Regina [UNESP] ; Januario, Bianca [UNESP] ; Bento, Ana ; Brito, Pedro ; Burgos, Germán ; Paz-Cruz, Elius ; Díez-Juárez, Laura ; Vannelli, Silvia ; Pontes, Maria de Lurdes ; Berardi, Gabriela ; Furfuro, Sandra ; Fernandez, Alberto ; Sumita, Denilce ; Bobillo, Cecilia ; García, Maria Gabriela ; Gusmão, Leonor
Date: 2020
Persistent ID: http://hdl.handle.net/11449/198505
Origin: Oasisbr
Subject(s): Argus kit; Mutation rate; Population database; X chromosome
Description
Made available in DSpace on 2020-12-12T01:14:43Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-05-01
The GHEP-ISFG organized a collaborative study to estimate mutation rates for the markers included in the Investigator 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 together with other already published data. Data on fathers and mothers’ age at the time of birth of the daughter were also available for ∼93 % of the cases. Population analyses were computed considering the genetic information of a subset of 1,327 unrelated daughters, corresponding to 2,654 haplotypes from residents in several regions of five countries: Argentina, Brazil, Ecuador, Portugal and Spain. Genetic differentiation analyses between the population samples from the same country did not reveal signs of significant stratification, although results from Hardy-Weinberg and linkage disequilibrium tests indicated the need of larger studies for Ecuador and Brazilian populations. 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 ladders provided with the kit, as very diverse populations were analyzed. The overall estimates for locus specific average mutation rates varied between 7.5E-04 (for DXS7423) and 1.1E-02 (for DXS10135), the latter being a troublesome figure for kinship analyses. Most of the found mutations (∼92 %) are compatible with the gain or loss of a single repeat. Paternal mutation rates showed to be 5.2 times higher than maternal ones. We also found that older fathers were more prone to transmit mutated alleles, having this trend not been observed in the case of the mothers.
Institute of Pathology and Molecular Immunology from University of Porto (IPATIMUP)
Instituto de Investigação e Inovação em Saúde I3S Universidade do Porto
CMUP Centro de Matemática da Universidade do Porto
Section of Forensic Genetics Department of Forensic Medicine Faculty of Health and Medical Sciences University of Copenhagen
Laboratório de Diagnóstico por DNA (LDD) Universidade do Estado do Rio de Janeiro
Centro de Genética Forense Poder Judicial de Córdoba
Laboratorio Regional de Investigación Forense Tribunal Superior de Justicia de Santa Cruz
UNESP-Universidade Estadual Paulista Faculdade de Ciências Farmacêuticas Laboratório de Investigação de Paternidade-NAC
Instituto Nacional de Medicina Legal e Ciências Forenses I.P. Serviço de Genética e Biologia Forenses Delegação do Centro
Escuela de Medicina Facultad de Ciencias de la Salud Universidad de Las Américas (UDLA)
Laboratorio de ADN de la Fiscalía General del Estado
Departamento de Biología Servicio de Criminalística de la Guardia Civil
Laboratorio Regional de Genética Forense Poder Judicial de Río Negro
Instituto Nacional de Medicina Legal e Ciências Forenses I.P. Serviço de Genética e Biologia Forenses Delegação do Norte
PRICAI-Fundación Favaloro
Laboratorio de Análisis de ADN Facultad de Ciencias Médicas Universidad Nacional de Cuyo
LabGenetics: Laboratorio de Genética Clínica S.L.
Genomic Engenharia Molecular Molecular
Laboratorio de Genética Forense Poder Judicial de la Provincia de La Pampa
Laboratorio MANLAB Área de Filiaciones
UNESP-Universidade Estadual Paulista Faculdade de Ciências Farmacêuticas Laboratório de Investigação de Paternidade-NAC
