Investigation on the genetic-inconsistent paternity cases using the MiSeq FGx system
Mutations might challenge the paternity index calculation in forensic identification. While many studies have focussed on the autosomal short tandem repeats (A-STR), the mutation status of sex chromosomes and single nucleotide polymorphism (SNP) remain blank. Next generation sequencing (NGS), known...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Oxford University Press
2022-03-01
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| Series: | Forensic Sciences Research |
| Subjects: | |
| Online Access: | https://www.tandfonline.com/doi/10.1080/20961790.2021.2009631 |
| _version_ | 1797714089986752512 |
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| author | Anqi Chen Ruiyang Tao Chengtao Li Suhua Zhang |
| author_facet | Anqi Chen Ruiyang Tao Chengtao Li Suhua Zhang |
| author_sort | Anqi Chen |
| collection | DOAJ |
| description | Mutations might challenge the paternity index calculation in forensic identification. While many studies have focussed on the autosomal short tandem repeats (A-STR), the mutation status of sex chromosomes and single nucleotide polymorphism (SNP) remain blank. Next generation sequencing (NGS), known as high throughput and large sequence polymorphism, is a promising tool for forensic genetics. To describe the mutation landscapes in the paternity cases with genetic inconsistencies, a total of 63 parentage confirmed paternity cases contained at least one mismatched locus have been collected. The mutations were subsequently evaluated using Verogen’s MPS ForenSeqTM DNA Signature Kit and a microsatellite instability (MSI) detection kit. The result showed 98.41% (62/63) of the cases had no additional autosomal mutations even when the number of A-STRs increased to 27. As for the sex chromosomes, about 11.11% (7/63) of the cases exhibited either X-STR or Y-STR mutations. D2S1338, FGA and Penta E were the most frequent altered STRs, which suggested they might be the mutation hotspots. In addition, a male with sex chromosome abnormality was observed accidently, whose genotype might be 47, XXY, rather than MSI. Nearly 56.90% of the STR loci possessed isoalleles, which might result in higher STR polymorphisms. No Mendelian incompatibility was detected among the SNP markers, which indicated that SNP was a more reliable genetic marker in the genetic-inconsistent paternity cases.Supplemental data for this article is available online at https://doi.org/10.1080/20961790.2021.2009631 . |
| first_indexed | 2024-03-12T07:46:47Z |
| format | Article |
| id | doaj.art-4c33c12651da4e7393f7bfbac8baac3a |
| institution | Directory Open Access Journal |
| issn | 2096-1790 2471-1411 |
| language | English |
| last_indexed | 2024-03-12T07:46:47Z |
| publishDate | 2022-03-01 |
| publisher | Oxford University Press |
| record_format | Article |
| series | Forensic Sciences Research |
| spelling | doaj.art-4c33c12651da4e7393f7bfbac8baac3a2023-09-02T20:55:51ZengOxford University PressForensic Sciences Research2096-17902471-14112022-03-011610.1080/20961790.2021.2009631Investigation on the genetic-inconsistent paternity cases using the MiSeq FGx systemAnqi Chen0Ruiyang Tao1Chengtao Li2Suhua Zhang3Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Science, Ministry of Justice, Shanghai, ChinaShanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Science, Ministry of Justice, Shanghai, ChinaShanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Science, Ministry of Justice, Shanghai, ChinaShanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Science, Ministry of Justice, Shanghai, ChinaMutations might challenge the paternity index calculation in forensic identification. While many studies have focussed on the autosomal short tandem repeats (A-STR), the mutation status of sex chromosomes and single nucleotide polymorphism (SNP) remain blank. Next generation sequencing (NGS), known as high throughput and large sequence polymorphism, is a promising tool for forensic genetics. To describe the mutation landscapes in the paternity cases with genetic inconsistencies, a total of 63 parentage confirmed paternity cases contained at least one mismatched locus have been collected. The mutations were subsequently evaluated using Verogen’s MPS ForenSeqTM DNA Signature Kit and a microsatellite instability (MSI) detection kit. The result showed 98.41% (62/63) of the cases had no additional autosomal mutations even when the number of A-STRs increased to 27. As for the sex chromosomes, about 11.11% (7/63) of the cases exhibited either X-STR or Y-STR mutations. D2S1338, FGA and Penta E were the most frequent altered STRs, which suggested they might be the mutation hotspots. In addition, a male with sex chromosome abnormality was observed accidently, whose genotype might be 47, XXY, rather than MSI. Nearly 56.90% of the STR loci possessed isoalleles, which might result in higher STR polymorphisms. No Mendelian incompatibility was detected among the SNP markers, which indicated that SNP was a more reliable genetic marker in the genetic-inconsistent paternity cases.Supplemental data for this article is available online at https://doi.org/10.1080/20961790.2021.2009631 .https://www.tandfonline.com/doi/10.1080/20961790.2021.2009631Forensic sciencesforensic geneticspaternity testingnext generation sequencing (NGS)ForenSeqTM DNA Signature Prep Kit |
| spellingShingle | Anqi Chen Ruiyang Tao Chengtao Li Suhua Zhang Investigation on the genetic-inconsistent paternity cases using the MiSeq FGx system Forensic Sciences Research Forensic sciences forensic genetics paternity testing next generation sequencing (NGS) ForenSeqTM DNA Signature Prep Kit |
| title | Investigation on the genetic-inconsistent paternity cases using the MiSeq FGx system |
| title_full | Investigation on the genetic-inconsistent paternity cases using the MiSeq FGx system |
| title_fullStr | Investigation on the genetic-inconsistent paternity cases using the MiSeq FGx system |
| title_full_unstemmed | Investigation on the genetic-inconsistent paternity cases using the MiSeq FGx system |
| title_short | Investigation on the genetic-inconsistent paternity cases using the MiSeq FGx system |
| title_sort | investigation on the genetic inconsistent paternity cases using the miseq fgx system |
| topic | Forensic sciences forensic genetics paternity testing next generation sequencing (NGS) ForenSeqTM DNA Signature Prep Kit |
| url | https://www.tandfonline.com/doi/10.1080/20961790.2021.2009631 |
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