Noninvasive prenatal paternity determination using microhaplotypes: a pilot study

Autor(es)

Wang, Jaqueline Yu Ting ^[1] ; Whittle, Martin R. ^[2] ; Puga, Renato David ^[3] ; Yambartsev, Anatoly ^[4] ; Fujita, Andre ^[5] ; Nakaya, Helder I. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Sch Pharmaceut Sci, Dept Clin Toxicol Anal, Sao Paulo - Brazil

^[2] Genom Engn Mol Ltda, Sao Paulo - Brazil

^[3] Hosp Israelita Albert Einstein, Sao Paulo - Brazil

^[4] Univ Sao Paulo, Inst Math & Stat, Stat Dept, Sao Paulo - Brazil

^[5] Univ Sao Paulo, Inst Math & Stat, Dept Comp Sci, Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: BMC MEDICAL GENOMICS; v. 13, n. 1 OCT 23 2020.
• Citações Web of Science: 0

Resumo

Background The use of noninvasive techniques to determine paternity prenatally is increasing because it reduces the risks associated with invasive procedures. Current methods, based on SNPs, use the analysis of at least 148 markers, on average. Methods To reduce the number of regions, we used microhaplotypes, which are chromosomal segments smaller than 200 bp containing two or more SNPs. Our method employs massively parallel sequencing and analysis of microhaplotypes as genetic markers. We tested 20 microhaplotypes and ascertained that 19 obey Hardy-Weinberg equilibrium and are independent, and data from the 1000 Genomes Project were used for population frequency and simulations. Results We performed simulations of true and false paternity, using the 1000 Genomes Project data, to confirm if the microhaplotypes could be used as genetic markers. We observed that at least 13 microhaplotypes should be used to decrease the chances of false positives. Then, we applied the method in 31 trios, and it was able to correctly assign the fatherhood in cases where the alleged father was the real father, excluding the inconclusive results. We also cross evaluated the mother-plasma duos with the alleged fathers for false inclusions within our data, and we observed that the use of at least 15 microhaplotypes in real data also decreases the false inclusions. Conclusions In this work, we demonstrated that microhaplotypes can be used to determine prenatal paternity by using only 15 regions and with admixtures of DNA. (AU)

• Processo FAPESP: 12/19278-6 - Biologia de sistemas de longos RNAs não-codificadores
• Beneficiário: Helder Takashi Imoto Nakaya
• Modalidade de apoio: Auxílio à Pesquisa - Jovens Pesquisadores
• Processo FAPESP: 18/21934-5 - Estatística de redes: teoria, métodos e aplicações
• Beneficiário: André Fujita
• Modalidade de apoio: Auxílio à Pesquisa - Temático