Robustness of genome-wide scanning using archived dried blood spot samples as a DNA source

Mads Vilhelm Hollegaard, Jakob Grove, Jonas Grauholm, Eskil Kreiner-Møller, Klaus Bønnelykke, Mette Lone Nørgaard, Thomas Benfield, Bent Nørgaard-Pedersen, Preben Bo Mortensen, Ole Mors, Henrik Sørensen, Zitta B Harboe, Anders Børglum, Ditte Demontis, Torben Falck Ørntoft, Hans Bisgaard, David M Hougaard

67 Citationer (Scopus)


The search to identify disease-susceptible genes requires access to biological material from numerous well-characterized subjects. Archived residual dried blood spot (DBS) samples, also known as Guthrie cards, from national newborn screening programs may provide a DNA source for entire populations. Combined with clinical information from medical registries, DBS samples could provide a rich source for productive research. However, the amounts of DNA which can be extracted from these precious samples are minute and may be prohibitive for numerous genotypings. Previously, we demonstrated that DBS DNA can be whole-genome amplified and used for reliable genetic analysis on different platforms, including genome-wide scanning arrays. However, it remains unclear whether this approach is workable on a large sample scale. We examined the robustness of using DBS samples for whole-genome amplification following genome-wide scanning, using arrays from Illumina and Affymetrix.
TidsskriftB M C Genetics
Sider (fra-til)58
Antal sider7
StatusUdgivet - 2011


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