Genome-wide Scans Using Archived Neonatal Dried Blood Spot Samples

Overview

Journal BMC Genomics

Publisher Biomed Central

Specialty Genetics

Date 2009 Jul 7

PMID 19575812

Citations 36

Authors

Mads V Hollegaard

Jonas Grauholm

Anders Borglum

Mette Nyegaard

Bent Norgaard-Pedersen

Torben Orntoft

Preben B Mortensen

Carsten Wiuf

Ole Mors

Michael Didriksen

Poul Thorsen

David M Hougaard

Affiliations

Soon will be listed here.

Abstract

Background: Identification of disease susceptible genes requires access to DNA from numerous well-characterised subjects. Archived residual dried blood spot samples from national newborn screening programs may provide DNA from entire populations and medical registries the corresponding clinical information. The amount of DNA available in these samples is however rarely sufficient for reliable genome-wide scans, and whole-genome amplification may thus be necessary. This study assess the quality of DNA obtained from different amplification protocols by evaluating fidelity and robustness of the genotyping of 610,000 single nucleotide polymorphisms, using the Illumina Infinium HD Human610-Quad BeadChip. Whole-genome amplified DNA from 24 neonatal dried blood spot samples stored between 15 to 25 years was tested, and high-quality genomic DNA from 8 of the same individuals was used as reference.

Results: Using 3.2 mm disks from dried blood spot samples the optimal DNA-extraction and amplification protocol resulted in call-rates between 99.15% - 99.73% (mean 99.56%, N = 16), and conflicts with reference DNA in only three per 10,000 genotype calls.

Conclusion: Whole-genome amplified DNA from archived neonatal dried blood spot samples can be used for reliable genome-wide scans and is a cost-efficient alternative to collecting new samples.

Citing Articles

Preparation and processing of dried blood spots for microRNA sequencing.

Morgunova A, Ibrahim P, Chen G, Coury S, Turecki G, Meaney M Biol Methods Protoc. 2023; 8(1):bpad020.

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Genetic predictors of neurocognitive outcomes in survivors of pediatric brain tumors.

Grob S, Miller K, Sanford B, Donson A, Jones K, Griesinger A J Neurooncol. 2023; 165(1):161-169.

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Genome-wide Association Study of Susceptibility to Respiratory Syncytial Virus Hospitalization in Young Children <5 Years of age.

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Multi-ancestry genome-wide association study of 4069 children with glioma identifies 9p21.3 risk locus.

Foss-Skiftesvik J, Li S, Rosenbaum A, Hagen C, Stoltze U, Ljungqvist S Neuro Oncol. 2023; 25(9):1709-1720.

PMID: 36810956 PMC: 10484172. DOI: 10.1093/neuonc/noad042.

A method to correct for the influence of bovine serum albumin-associated vitamin D metabolites in protein extracts from neonatal dried blood spots.

Boelt S, Plana-Ripoll O, Albinana C, Vilhjalmsson B, McGrath J, Cohen A BMC Res Notes. 2022; 15(1):194.

PMID: 35659347 PMC: 9166528. DOI: 10.1186/s13104-022-06077-1.

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