Kinship analysis on single cells after whole genome amplification.
Adult
Aged
Aged, 80 and over
Blood Donors
DNA
/ genetics
Female
Genome, Human
Genotype
Genotyping Techniques
/ methods
Humans
Male
Microsatellite Repeats
/ genetics
Middle Aged
Nuclear Family
Nucleic Acid Amplification Techniques
/ methods
Polymorphism, Single Nucleotide
Single-Cell Analysis
/ methods
Young Adult
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
04 09 2020
04 09 2020
Historique:
received:
24
04
2020
accepted:
18
08
2020
entrez:
5
9
2020
pubmed:
6
9
2020
medline:
20
3
2021
Statut:
epublish
Résumé
Short Tandem Repeat (STR-) and Single Nucleotide Polymorphism (SNP-) genotyping have been extensively studied within forensic kinship analysis. Nevertheless, no results have been reported on kinship analysis after whole genome amplification (WGA) of single cells. This WGA step is a necessary procedure in several applications, such as cell-based non-invasive prenatal testing (cbNIPT) and pre-implantation genetic diagnosis (PGD). In cbNIPT, all putative fetal cells must be discriminated from maternal cells after enrichment from whole blood. This study investigates the efficacy and evidential value of STR- and SNP-genotyping methods for the discrimination of 24 single cells after WGA, within three families. Formaldehyde-fixed and unfixed cells are assessed in offspring-parent duos and offspring-mother-father trios. Results demonstrate that both genotyping methods can be used in all tested conditions and scenarios with 100% sensitivity and 100% specificity, with a similar evidential value for fixed and unfixed cells. Moreover, sequence-based SNP-genotyping results in a higher evidential value than length-based STR-genotyping after WGA, which is not observed using high-quality offspring bulk DNA samples. Finally, it is also demonstrated that the availability of the DNA genotypes of both parents strongly increases the evidential value of the results.
Identifiants
pubmed: 32887915
doi: 10.1038/s41598-020-71562-1
pii: 10.1038/s41598-020-71562-1
pmc: PMC7474072
doi:
Substances chimiques
DNA
9007-49-2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
14647Références
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