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A simple DNA diagnostic method for human genetic disorders

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Summary

A fast, reliable, and simple technique for detecting point mutations in unfractionated human DNA has been developed. Oligonucleotide probes complementary to either sickle- or normal β-globin DNA are labeled by primer extension and hybridized to DNA applied to nitrocellulose paper in a dot-blot format. A short hybridization time (about 1 h) and low probe concentration (about 1 nM) yield low background and high specificity. Double-blind trials show 100% agreement with restriction fragment length polymorphism (RFLP) analysis of DNA from normal, sickle, and heterozygous subjects.

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Authors and Affiliations

  1. Molecular Diagnostics, Inc., 400 Morgan Lane, 06516, West Haven, CT, USA

    Daniel Rabin & Nanibhushan Dattagupta

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  1. Daniel Rabin
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  2. Nanibhushan Dattagupta
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Rabin, D., Dattagupta, N. A simple DNA diagnostic method for human genetic disorders. Hum Genet 75, 120–122 (1987). https://doi.org/10.1007/BF00591071

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  • DOI: https://doi.org/10.1007/BF00591071

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