Analysis of fetal DNA in maternal plasma with markers designed for forensic DNA mixture resolution.

Details

Ressource 1Download: 30072742_pp_cover.pdf (1301.03 [Ko])
State: Public
Version: Author's accepted manuscript
License: Not specified
Serval ID
serval:BIB_39BEF9A322ED
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Analysis of fetal DNA in maternal plasma with markers designed for forensic DNA mixture resolution.
Journal
Genetics in medicine
Author(s)
Moriot A., Hall D.
ISSN
1530-0366 (Electronic)
ISSN-L
1098-3600
Publication state
Published
Issued date
03/2019
Peer-reviewed
Oui
Volume
21
Number
3
Pages
613-621
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
With the description of circulating fetal DNA in maternal blood, noninvasive prenatal diagnostics became theoretically possible. As the presence of background maternal DNA interferes with the detection of fetal DNA, analytical methods require genetic markers capable of distinguishing by quantitative or targeted approaches the minor population of DNA molecules of the fetus. Here we evaluate the feasibility of analyzing fetal DNA with novel DIP-STR genetic markers, designed for the investigation of forensic mixed biological evidence.
The DIP-STR molecular approach is based on sequence-specific analysis of paternally inherited fetal alleles. These sequences are biallelic deletion/insertion polymorphisms (DIPs) located very close to short tandem repeat (STR) markers, for combined analysis. In this study, 48 women were tested with 28 DIP-STRs during the first, second, and third trimester of pregnancy.
Positive results were obtained across markers, including longer ones (386 base-pairs) and with blood samples collected during early pregnancy, such as 10 weeks of gestational age.
These data show that DIP-STR markers can be used to amplify specific genomic regions of circulating fetal DNA to obtain targeted genetic information. This method may contribute to developments in noninvasive prenatal paternity testing and diagnosis of certain genetic diseases.
Keywords
Alleles, Biomarkers/blood, Cell-Free Nucleic Acids/analysis, Cell-Free Nucleic Acids/genetics, DNA/blood, Fathers, Female, Fetus, Forensic Genetics/methods, Gene Frequency/genetics, Genetic Markers/genetics, Genotype, Humans, INDEL Mutation/genetics, Microsatellite Repeats/genetics, Paternal Inheritance/genetics, Polymorphism, Genetic/genetics, Pregnancy, Prenatal Diagnosis/methods, Sequence Analysis, DNA/methods, Cell-free DNA, DIP-STR, DNA mixture, Noninvasive prenatal testing, Paternity testing
Pubmed
Web of science
Create date
07/08/2018 8:37
Last modification date
20/08/2019 13:29
Usage data