Skip to main content
SpringerLink
Log in

Newborn screening by DNA analysis of dried blood spots

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

Amplification of DNA recovered from a dried blood spot was used to genotype individuals with sickle cell disease, sickle cell carriers, and controls. A single 200-μl blood spot applied to a filter paper provides sufficient material for more than 20 genetic analyses. In addition, the stability of the DNA is such that adequate material for amplification can be isolated from dried blood spots up to a year following collection. The DNA analysis methods described in this study could be applied to large-scale screening of newborns for genetic disorders.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Bickel HC, Bachman C, Beckers R (1981) Neonatal mass screening for metabolic disorders. Eur J Pediatr 137:133–139

    Google Scholar 

  • Chehab FF, Doherty M, Cai S, Kan YW, Cooper S, Rubin EM (1987) Detection of sickle cell anaemia and thalassemias. Nature 329: 293–294

    Google Scholar 

  • Kanter E, Baird M, Shaler R, Balazs I (1986) Analysis of restriction fragment length polymorphisms in deoxynucleic acid (DNA) recoved from dried bloodstrains. J Forensic Sci 31:403–408

    Google Scholar 

  • Levy HL (1973) Genetic screening. Adv Hum Genet 4:1–104

    Google Scholar 

  • Lusis AJ (1988) Genetic factors affecting blood lipoproteins. J Lipid Res 20:307–429

    Google Scholar 

  • McCabe ER, Huang SZ, Seltzer WK, Law ML (1987) DNA microextraction from dried blood spots on filter paper blotters: potential applications to newborn screening. Hum Genet 75:213–216

    Google Scholar 

  • Oste C (1988) Polymerase chain reaction. Biotechniques 6:162–167

    Google Scholar 

  • Paabo S, Gifford JA, Wilson AC (1988) Mitochondrial DNA sequences from a 7000-year-old brain. Nucleic Acids Res 16:9775–9787

    Google Scholar 

  • Rollo F, Amici A, Salvi R, Garbuglia A (1988) Short but faithful pieces of ancient DNA. Nature 335:774

    Google Scholar 

  • Saiki SK, Chang C-A, Levenson CH, Warren TC, Boehm CD, Kazazian HH Jr, Erlich HA (1988a) Diagnosis of sickle cell anemia and beta-thallasemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes. N Engl J Med 319:537–541

    Google Scholar 

  • Saiki SK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA (1988b) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487–491

    Google Scholar 

  • Scharf S, Horn G, Erlich H (1986) Direct cloning and sequence analysis of enzymatically amplified genomic sequences. Science 233:1076–1078

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Cell and Molecular Biology, Lawrence Berkeley Laboratory, University of California at Berkeley, 1 Cyclotron Road, 94720, Berkeley, CA, USA

    Edward M. Rubin & Keith A. Andrews

  2. Howard Hughes Medical Institute and Department of Medicine, University of California at San Francisco, 94143, San Francisco, CA, USA

    Yuet Wai Kan

Authors
  1. Edward M. Rubin
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Keith A. Andrews
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Yuet Wai Kan
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Rubin, E.M., Andrews, K.A. & Kan, Y.W. Newborn screening by DNA analysis of dried blood spots. Hum Genet 82, 134–136 (1989). https://doi.org/10.1007/BF00284045

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00284045

Keywords

Search

Navigation