Kinship analysis on single cells after whole genome amplification

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 val... Mehr ...

Verfasser: Weymaere, Jana
Vander Plaetsen, Ann-Sophie
Tilleman, Laurentijn
Tytgat, Olivier
Rubben, Kaat
Geeraert, Sofie
Deforce, Dieter
Van Nieuwerburgh, Filip
Dokumenttyp: journalarticle
Erscheinungsdatum: 2020
Schlagwörter: Medicine and Health Sciences / Multidisciplinary / TANDEM REPEAT LOCI / BELGIAN POPULATION / NUCLEOTIDE POLYMORPHISMS / SNPS / PATERNITY / DNA / PERFORMANCE / ASSAY
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-28879156
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://biblio.ugent.be/publication/8688465

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.