Summary
The protein-based technologies used to screen newborns for sickle cell disease require confirmation with a liquid blood specimen. We have developed a strategy for rapid and specific genotypic diagnosis using DNA extracted from a dried blood spot on the filter paper blotter used to screen newborns. DNA could be microextracted from a specimen as small as a 1/8 inch diameter punched disc representing the dried equivalent of approximately 3 μl of whole blood. We utilized the DNA from a 1/4 inch diameter specimen (12 μl equivalent) for polymerase chain reaction amplification of the β-globin region spanning the sickle cell mutation with detection by allele-specific oligonucleotide probes. Molecular confirmation of genotype from the original blotter would reduce the personnel costs associated with obtaining follow-up liquid blood specimens and would provide information to the family in a more timely and less equivocal manner.
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Jinks, D.C., Minter, M., Tarver, D.A. et al. Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening. Hum Genet 81, 363–366 (1989). https://doi.org/10.1007/BF00283692
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DOI: https://doi.org/10.1007/BF00283692