Open Access Research article

The use of DNA from archival dried blood spots with the Infinium HumanMethylation450 array

JiHoon E Joo1, Ee Ming Wong1, Laura Baglietto25, Chol-Hee Jung3, Helen Tsimiklis1, Daniel J Park1, Nicholas C Wong4, Dallas R English25, John L Hopper5, Gianluca Severi25, Graham G Giles25 and Melissa C Southey1*

Author Affiliations

1 Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Victoria, 3010, Australia

2 Cancer Epidemiology Centre, Cancer Council Victoria, Victoria, 3053, Australia

3 Life Sciences Computation Centre, Victorian Life Sciences Computation Initiative Carlton, Victoria, 3010, Australia

4 Cancer and Disease Epigenetics, Murdoch Childrens Research Institute, Department of Paediatrics, The University of Melbourne, Royal Children’s Hospital, Victoria, 3052, Australia

5 Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Victoria, 3010, Australia

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BMC Biotechnology 2013, 13:23  doi:10.1186/1472-6750-13-23

Published: 15 March 2013



Dried blood (Guthrie card) spots provide an efficient way to collect and store blood specimens. DNA from this source has been utilised for a number of molecular analyses including genome-wide association studies, but only few studies have tested the feasibility of using it for epigenetic applications, particularly at a genome-wide level.


In this study, we demonstrate the successful use of DNA isolated from archived dried blood spots for the Infinium HumanMethylation450 Beadchip, along with DNA from matched frozen buffy coats. We obtained high quality and reproducible genome-wide DNA methylation profiles using both sample types. We also report high correlations (r > 0.9907) between DNA obtained from matched dried blood spots and frozen buffy coats, sufficient to distinguish between unrelated individuals.


We, thus, demonstrate that DNA from archived dried blood spots is suitable for genome-wide DNA methylation profiling.

DNA methylation; Epigenetics; Infinium HumanMethylation450; Dried blood spots; Guthrie cards; Genome-wide DNA methylation