Noninvasive prenatal paternity determination using microhaplotypes: a pilot study
Abstract 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 us...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2020-10-01
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| Series: | BMC Medical Genomics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12920-020-00806-w |
| _version_ | 1818622149070422016 |
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| author | Jaqueline Yu Ting Wang Martin R. Whittle Renato David Puga Anatoly Yambartsev André Fujita Helder I. Nakaya |
| author_facet | Jaqueline Yu Ting Wang Martin R. Whittle Renato David Puga Anatoly Yambartsev André Fujita Helder I. Nakaya |
| author_sort | Jaqueline Yu Ting Wang |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-16T18:20:34Z |
| format | Article |
| id | doaj.art-5020bfabf9e44cdab2202e20ae22d128 |
| institution | Directory Open Access Journal |
| issn | 1755-8794 |
| language | English |
| last_indexed | 2024-12-16T18:20:34Z |
| publishDate | 2020-10-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj.art-5020bfabf9e44cdab2202e20ae22d1282022-12-21T22:21:34ZengBMCBMC Medical Genomics1755-87942020-10-011311810.1186/s12920-020-00806-wNoninvasive prenatal paternity determination using microhaplotypes: a pilot studyJaqueline Yu Ting Wang0Martin R. Whittle1Renato David Puga2Anatoly Yambartsev3André Fujita4Helder I. Nakaya5Department of Clinical Toxicological Analyzes, School of Pharmaceutical Sciences, University of São PauloGenomic Engenharia Molecular LtdaHospital Israelita Albert EinsteinStatistics Department, Institute of Mathematics and Statistics, University of São PauloDepartment of Computer Science, Institute of Mathematics and Statistics, University of São PauloDepartment of Clinical Toxicological Analyzes, School of Pharmaceutical Sciences, University of São PauloAbstract 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.http://link.springer.com/article/10.1186/s12920-020-00806-wMicrohaplotypeNoninvasiveProbability of paternityPrenatalSingle nucleotide polymorphism |
| spellingShingle | Jaqueline Yu Ting Wang Martin R. Whittle Renato David Puga Anatoly Yambartsev André Fujita Helder I. Nakaya Noninvasive prenatal paternity determination using microhaplotypes: a pilot study BMC Medical Genomics Microhaplotype Noninvasive Probability of paternity Prenatal Single nucleotide polymorphism |
| title | Noninvasive prenatal paternity determination using microhaplotypes: a pilot study |
| title_full | Noninvasive prenatal paternity determination using microhaplotypes: a pilot study |
| title_fullStr | Noninvasive prenatal paternity determination using microhaplotypes: a pilot study |
| title_full_unstemmed | Noninvasive prenatal paternity determination using microhaplotypes: a pilot study |
| title_short | Noninvasive prenatal paternity determination using microhaplotypes: a pilot study |
| title_sort | noninvasive prenatal paternity determination using microhaplotypes a pilot study |
| topic | Microhaplotype Noninvasive Probability of paternity Prenatal Single nucleotide polymorphism |
| url | http://link.springer.com/article/10.1186/s12920-020-00806-w |
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