Development and optimization of the VISAGE basic prototype tool for forensic age estimation.


Journal

Forensic science international. Genetics
ISSN: 1878-0326
Titre abrégé: Forensic Sci Int Genet
Pays: Netherlands
ID NLM: 101317016

Informations de publication

Date de publication:
09 2020
Historique:
received: 29 11 2019
revised: 22 04 2020
accepted: 03 06 2020
pubmed: 24 6 2020
medline: 13 7 2021
entrez: 24 6 2020
Statut: ppublish

Résumé

The VISAGE (VISible Attributes through GEnomics) consortium aims to develop, optimize and validate prototype tools to broaden the use of DNA intelligence methods in forensic routine laboratories. This includes age estimation based on the quantification of DNA methylation at specific CpG sites. Here, we present the VISAGE basic prototype tool for age estimation targeting 32 CpGs from five genes ELOVL2, MIR29B2CHG (herein, MIR29B2C), FHL2, TRIM59 and KLF14. The assay interrogates these well described age markers by multiplex PCR for bisulfite converted DNA and massively parallel sequencing on a MiSeq FGx instrument. We describe protocol optimizations including tests on five bisulfite conversion kits and an evaluation of the assay's reproducibility and sensitivity with artificially methylated DNA standards. We observed robust quantification of methylation levels with a mean standard deviation of 1.4 % across ratios. Sensitivity tests showed no increase of variability down to 20 ng DNA input into bisulfite conversion with a median difference below 1.6 % between technical replicates.

Identifiants

pubmed: 32574993
pii: S1872-4973(20)30095-8
doi: 10.1016/j.fsigen.2020.102322
pii:
doi:

Substances chimiques

ELOVL2 protein, human 0
FHL2 protein, human 0
Genetic Markers 0
Intracellular Signaling Peptides and Proteins 0
KLF14 protein, human 0
Kruppel-Like Transcription Factors 0
LIM-Homeodomain Proteins 0
Muscle Proteins 0
TRIM59 protein, human 0
Transcription Factors 0
Tripartite Motif Proteins 0
Fatty Acid Elongases EC 2.3.1.-

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

102322

Informations de copyright

Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Auteurs

A Heidegger (A)

Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria.

C Xavier (C)

Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria. Electronic address: catarina.gomes@i-med.ac.at.

H Niederstätter (H)

Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria.

M de la Puente (M)

Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria; Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, Spain.

E Pośpiech (E)

Malopolska Centre of Biotechnology of the Jagiellonian University, Krakow, Poland.

A Pisarek (A)

Malopolska Centre of Biotechnology of the Jagiellonian University, Krakow, Poland.

M Kayser (M)

Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.

W Branicki (W)

Malopolska Centre of Biotechnology of the Jagiellonian University, Krakow, Poland; Central Forensic Laboratory of the Police, Warsaw, Poland.

W Parson (W)

Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria; Forensic Science Program, The Pennsylvania State University, PA, USA. Electronic address: walther.parson@i-med.ac.at.

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Classifications MeSH