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

Autor(es):Mostrar menos -

Pinto, Nadia ^{[1, 2, 3]} ; Pereira, Vania ^[4] ; Tomas, Carmen ^[4] ; Loiola, Silvia ^[5] ; Carvalho, Elizeu F. ^[5] ; Modesti, Nidia ^[6] ; Maxzud, Mariana ^[6] ; Marcucci, Valeria ^[7] ; Cano, Hortensia ^[7] ; Cicarelli, Regina ^[8] ; Januario, Bianca ^[8] ; Bento, Ana ^[9] ; Brito, Pedro ^[9] ; Burgos, German ^[10] ; Paz-Cruz, Elius ^[11] ; Diez-Juarez, Laura ^[12] ; Vannelli, Silvia ^[13] ; Pontes, Maria de Lurdes ^[14] ; Berardi, Gabriela ^[15] ; Furfuro, Sandra ^[16] ; Fernandez, Alberto ^[17] ; Sumita, Denilce ^[18] ; Bobillo, Cecilia ^[19] ; Garcia, Maria Gabriela ^[20] ; Gusmao, Leonor ^[5]

Afiliação do(s) autor(es):Mostrar menos -

^[1] Univ Porto IPATIMUP, Inst Pathol & Mol Immunol, Porto - Portugal

^[2] Univ Porto, Inst Invest & Inovacao Saude, I3S, Porto - Portugal

^[3] Univ Porto, CMUP, Ctr Matemat, Porto - Portugal

^[4] Univ Copenhagen, Fac Hlth & Med Sci, Dept Forens Med, Sect Forens Genet, Copenhagen - Denmark

^[5] Univ Estado Rio de Janeiro, Lab Diagnost DNA LDD, Rio De Janeiro - Brazil

^[6] Poder Judicial Cordoba, Ctr Genet Forense, Cordoba - Argentina

^[7] Tribunal Super Justicia Santa Cruz, Lab Reg Invest Forense, Rio Cuarto - Argentina

^[8] UNESP Univ Estadual Paulista, Fac Ciencias Farmaceut, Lab Invest Paternidade NAC, Sao Paulo - Brazil

^[9] Inst Nacl Med Legal & Ciencias Forenses IP, Serv Genet & Biol Forenses, Delegacao Ctr, Coimbra - Portugal

^[10] Univ Las Amer UDLA, Fac Ciencias Salud, Escuela Med, Quito - Ecuador

^[11] Lab ADN Fiscalia Gen Estado, Quito - Ecuador

^[12] Serv Criminalist Guardia Civil, Dept Biol, Madrid - Spain

^[13] Poder Judicial Rio Negro, Lab Reg Genet Forense, Rio Negro - Argentina

^[14] Inst Nacl Med Legal & Ciencias Forenses IP, Serv Genet & Biol Forenses, Coimbra - Portugal

^[15] PRICAI Fdn Favaloro, Buenos Aires, DF - Argentina

^[16] Univ Nacl Cuyo, Fac Ciencias Med, Lab Anal ADN, Mendoza - Argentina

^[17] LabGenet Lab Genet Clin SL, Madrid - Spain

^[18] Genom Engn Mol Mol, Sao Paulo - Brazil

^[19] Poder Judicial Prov La Pampa, Lab Genet Forense, Santa Rosa - Argentina

^[20] Lab MANLAB, Area Filiac, Buenos Aires, DF - Argentina

• Tipo de documento: Artigo Científico
• Fonte: FORENSIC SCIENCE INTERNATIONAL-GENETICS; v. 46, MAY 2020.
• Citações Web of Science: 0

Resumo

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 similar to 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 (similar to 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. (AU)

• Processo FAPESP: 16/10138-8 - Estudo de marcadores dos cromossomos sexuais na população do estado de São Paulo: análise de 32 X-InDels e 23 Y-STRs
• Beneficiário: Regina Maria Barretto Cicarelli
• Modalidade de apoio: Auxílio à Pesquisa - Regular