Literature DB >> 10583919

Optimization of an automated DNA purification protocol for neonatal screening.

E M Heath1, D P O'Brien, R Banas, E W Naylor, S Dobrowolski.   

Abstract

CONTEXT: Collection of blood from newborns is a standard clinical procedure used for genetic screening. Typically, blood from a heel prick is absorbed onto standard collection paper and dried before analysis of metabolites, proteins, hormones, and more recently DNA.
OBJECTIVE: To evaluate strategies to purify DNA for use with automated workstations.
DESIGN: Two factors were used to evaluate several DNA purification protocols: residual heme contamination and amplification yield. The protocol that produced DNA with the lowest heme content and the highest amplification yield was selected. In combination with those two performance factors, the protocol with the fewest number of steps was chosen to reduce reagent use and processing time.
SETTING: Industrial research and development laboratory.
RESULTS: Robust amplification of DNA isolated from dried blood spots was demonstrated using both fluorescence and agarose gel-based detection methods. In addition, the samples had consistent DNA volumes and had no detectable cross-contamination. Suggested instrument settings, equipment, and supplies were included for automated processing of DNA from dried blood spots.
CONCLUSION: A 4-step DNA processing protocol was developed for dried blood spots. The protocol could be performed in either a manual or automated format, making it possible to process hundreds of samples in 1 day.

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Year:  1999        PMID: 10583919     DOI: 10.5858/1999-123-1154-OOAADP

Source DB:  PubMed          Journal:  Arch Pathol Lab Med        ISSN: 0003-9985            Impact factor:   5.534


  7 in total

1.  Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling.

Authors:  Steven F Dobrowolski; Ha T Pham; Frances Pouch Downes; Thomas W Prior; Edwin W Naylor; Kathy J Swoboda
Journal:  Clin Chem       Date:  2012-04-09       Impact factor: 8.327

2.  Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.

Authors:  Trine Tangeraas; Ingjerd Sæves; Claus Klingenberg; Jens Jørgensen; Erle Kristensen; Gunnþórunn Gunnarsdottir; Eirik Vangsøy Hansen; Janne Strand; Emma Lundman; Sacha Ferdinandusse; Cathrin Lytomt Salvador; Berit Woldseth; Yngve T Bliksrud; Carlos Sagredo; Øyvind E Olsen; Mona C Berge; Anette Kjoshagen Trømborg; Anders Ziegler; Jin Hui Zhang; Linda Karlsen Sørgjerd; Mari Ytre-Arne; Silje Hogner; Siv M Løvoll; Mette R Kløvstad Olavsen; Dionne Navarrete; Hege J Gaup; Rina Lilje; Rolf H Zetterström; Asbjørg Stray-Pedersen; Terje Rootwelt; Piero Rinaldo; Alexander D Rowe; Rolf D Pettersen
Journal:  Int J Neonatal Screen       Date:  2020-06-27

3.  Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Authors:  Marie-Pierre Audrezet; Aurélia Dabricot; Cédric Le Marechal; Claude Ferec
Journal:  J Mol Diagn       Date:  2008-08-07       Impact factor: 5.568

4.  Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.

Authors:  Steven F Dobrowolski; Richard A Banas; Joseph G Suzow; Michelle Berkley; Edwin W Naylor
Journal:  J Mol Diagn       Date:  2003-02       Impact factor: 5.568

5.  Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients.

Authors:  S F Dobrowolski; A L Pey; R Koch; H Levy; C C Ellingson; E W Naylor; A Martinez
Journal:  J Inherit Metab Dis       Date:  2008-10-21       Impact factor: 4.982

6.  Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.

Authors:  Janne Strand; Kiran Aftab Gul; Hans Christian Erichsen; Emma Lundman; Mona C Berge; Anette K Trømborg; Linda K Sørgjerd; Mari Ytre-Arne; Silje Hogner; Ruth Halsne; Hege Junita Gaup; Liv T Osnes; Grete A B Kro; Hanne S Sorte; Lars Mørkrid; Alexander D Rowe; Trine Tangeraas; Jens V Jørgensen; Charlotte Alme; Trude E H Bjørndalen; Arild E Rønnestad; Astri M Lang; Terje Rootwelt; Jochen Buechner; Torstein Øverland; Tore G Abrahamsen; Rolf D Pettersen; Asbjørg Stray-Pedersen
Journal:  Front Immunol       Date:  2020-07-09       Impact factor: 7.561

7.  NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCIES USING TRECS AND KRECS: SECOND PILOT STUDY IN BRAZIL.

Authors:  Marilia Pyles P Kanegae; Lucila Akune Barreiros; Jusley Lira Sousa; Marco Antônio S Brito; Edgar Borges de Oliveira; Lara Pereira Soares; Juliana Themudo L Mazzucchelli; Débora Quiorato Fernandes; Sonia Marchezi Hadachi; Silvia Maia Holanda; Flavia Alice T M Guimarães; Maura Aparecida P V V Boacnin; Marley Aparecida L Pereira; Joaquina Maria C Bueno; Anete Sevciovic Grumach; Regina Sumiko W Di Gesu; Amélia Miyashiro N Dos Santos; Newton Bellesi; Beatriz T Costa-Carvalho; Antonio Condino-Neto
Journal:  Rev Paul Pediatr       Date:  2017 Jan-Mar
  7 in total

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