In:
PLOS ONE, Public Library of Science (PLoS), Vol. 17, No. 4 ( 2022-4-1), p. e0266332-
Abstract:
To assess the efficacy of Y-chromosome mini-STR-based next-generation sequencing (NGS) for non-invasive prenatal paternity testing (NIPPT). Methods DNA was extracted from the plasma of 24 pregnant women, and cell-free fetal DNA (cffDNA) haplotyping was performed at 12 Y-chromosome mini-STR loci using the Illumina NextSeq 500 system. The cffDNA haplotype was validated by the paternal haplotype. Subsequentlly, the paternity testing parameters were attributed to each case quantitatively. Results The biological relationship between the alleged fathers and infants in all 24 family cases were confirmed by capillary electrophoresis (CE). The Y-chromosome mini-STR haplotypes of all 14 male cffDNA were obtained by NGS without any missing loci. The alleles of cffDNA and paternal genomic DNA were matched in 13 cases, and a mismatched allele was detected at the DYS393 locus in one case and considered as mutation. No allele was detected in the 10 female cffDNA. The combined paternity index (CPI) and probability of paternity calculation was based on 6 loci Y-haplotype distributions of a local population. The probability of paternity was 98.2699–99.8828% for the cases without mutation, and 14.8719% for the case harboring mutation. Conclusions Our proof-of-concept study demonstrated that Y-chromosome mini-STR can be used for NGS-based NIPPT with high accuracy in real cases, and is a promising tool for familial searching, paternity exclusion and sex selection in forensic and medical applications.
Type of Medium:
Online Resource
ISSN:
1932-6203
DOI:
10.1371/journal.pone.0266332
DOI:
10.1371/journal.pone.0266332.g001
DOI:
10.1371/journal.pone.0266332.g002
DOI:
10.1371/journal.pone.0266332.g003
DOI:
10.1371/journal.pone.0266332.g004
DOI:
10.1371/journal.pone.0266332.t001
DOI:
10.1371/journal.pone.0266332.s001
DOI:
10.1371/journal.pone.0266332.s002
DOI:
10.1371/journal.pone.0266332.s003
DOI:
10.1371/journal.pone.0266332.s004
DOI:
10.1371/journal.pone.0266332.s005
DOI:
10.1371/journal.pone.0266332.r001
DOI:
10.1371/journal.pone.0266332.r002
DOI:
10.1371/journal.pone.0266332.r003
DOI:
10.1371/journal.pone.0266332.r004
DOI:
10.1371/journal.pone.0266332.r005
DOI:
10.1371/journal.pone.0266332.r006
Language:
English
Publisher:
Public Library of Science (PLoS)
Publication Date:
2022
detail.hit.zdb_id:
2267670-3
