Evaluation of the HIrisPlex-S system in a Brazilian population sample

Autor(es):Mostrar menos -

Carratto, T. M. T. ^[1] ; Marcorin, L. ^[2] ; Debortoli, G. ^[3] ; Silva, V, G. ; Fracasso, N. C. A. ^[2] ; Oliveira, M. L. G. ^[2] ; Pereira, A. L. E. ^[2] ; Silva, A. B. C. ^[4] ; Donadi, E. A. ^[5] ; Simoes, A. L. ^[2] ; Castelli, E. C. ^[6] ; Norton, H. L. ^[7] ; Parra, E. J. ^[3] ; Mendes-Junior, C. T. ^[4]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Fac Filosofia Ciencias & Letras Ribeirao Preto, Dept Quim, Lab Pesquisas Forenses & Genom, BR-14040901 Ribeirao Preto, SP - Brazil

^[2] Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Genet, BR-14049900 Ribeirao Preto, SP - Brazil

^[3] Univ Toronto, Dept Anthropol, Mississauga, ON L5L 1C6 - Canada

^[4] Silva, G., V, Univ Sao Paulo, Fac Filosofia Ciencias & Letras Ribeirao Preto, Dept Quim, Lab Pesquisas Forenses & Genom, BR-14040901 Ribeirao Preto, SP - Brazil

^[5] Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Clin Med, Div Imunol Clin, BR-14048900 Ribeirao Preto, SP - Brazil

^[6] Sao Paulo State Univ UNESP, Dept Pathol, Sch Med, Botucatu, SP - Brazil

^[7] Univ Cincinnati, Dept Anthropol, Cincinnati, OH 45221 - USA

• Tipo de documento: Artigo Científico
• Fonte: FORENSIC SCIENCE INTERNATIONAL GENETICS SUPPLEMENT SERIES; v. 7, n. 1, p. 794-796, DEC 2019.
• Citações Web of Science: 0

Resumo

The main goal of DNA phenotyping is to predict externally visible characteristics (EVCs) of an individual using only its genetic information. Nowadays, the HIrisPlex-S system stands as a reliable model designed for skin color prediction. However, prediction of skin color phenotypes has not been thoroughly tested in recently admixed populations, so it is important to evaluate the applicability of this tool in these populations. This study aims to analyze the HIrisPlex-S system accuracy in an admixed sample of 276 individuals from the region of Ribeirao Preto city in Southeastern Brazil. Predictive markers were directly genotyped by Next-Generation Sequencing (NGS), Infinium Multi-Ethnic Global-8 (MEGA) Kit Array (Illumina), or imputed using the IMPUTE2 software. Skin color predictions were performed using the HIrisPlex-S online tool. Our report shows that, except for dark to black color, the tool consistently fails in determining skin phenotypes. Therefore, results reveal that the HIrisPlex-S System is less reliable when dealing with admixed population samples, not supporting its utility for forensic casework in Brazil. (AU)

• Processo FAPESP: 13/15447-0 - Sequenciamento de nova geração das regiões regulatórias e exônicas de dez genes envolvidos na biossíntese de melanina em amostra da população brasileira
• Beneficiário: Celso Teixeira Mendes Junior
• Modalidade de apoio: Auxílio à Pesquisa - Regular