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High-throughput genotyping on archived dried blood spot samples
Mads V Hollegaard1, Jakob Grove, Poul Thorsen
1Department of Clinical Biochemistry and Immunology, Statens Serum Institut, Copenhagen, Denmark. mvh@ssi.dk
Genetic Testing and Molecular Biomarkers
|April 18, 2009
Summary
Dried blood spot (DBS) samples from Danish biobanks are suitable for Illumina single-nucleotide polymorphism (SNP) genotyping after whole-genome amplification. This confirms the utility of biobank samples for genetic research, including complex diseases.
Area of Science:
- Genetics and Genomics
- Biobanking and Sample Management
Background:
- Dried blood spot (DBS) samples are stored in large biobanks like the Danish Neonatal Screening Biobank (DNSB) and Danish National Birth Cohort (DNBC).
- Assessing the utility of these stored DBS samples for high-throughput genotyping is crucial for genetic research.
Purpose of the Study:
- To evaluate the suitability of DBS samples from DNSB and DNBC for Illumina single-nucleotide polymorphism (SNP) genotyping.
- To determine the impact of storage time, DNA concentration, and filter paper type on genotyping success.
Main Methods:
- Genomic DNA (gDNA) was extracted from a single 3.2 mm DBS punch.
- Whole-genome amplification (wGA) was performed to increase DNA quantity for genotyping.
- A custom 1152 SNP genotyping assay was used, analyzing factors like storage duration and DNA concentrations.
Main Results:
- The custom SNP genotyping assay achieved a 68.5% locus success rate, near the expected 70%.
- Storage conditions affected genotyping in older DNSB samples (1982-1987) but not newer ones (1988-1990).
- Filter paper type influenced genotyping quality in DNBC samples.
Conclusions:
- High-throughput Illumina genotyping is feasible using whole-genome amplified DNA (wgaDNA) from a single DBS disk.
- Existing biobanks hold significant potential for studying gene interactions in complex diseases using DBS samples.
