Detection of single base substitutions in total genomic DNA

  title={Detection of single base substitutions in total genomic DNA},
  author={Richard M. Myers and Nadya Lumelsky and Leonard S. Lerman and Tom Maniatis},
Certain single base substitutions causing genetic diseases1–4 or resulting in polymorphisms linked to mutant alleles5–7, alter a restriction enzyme cleavage site and can therefore be detected in total genomic DNA using DNA blots. Many base substitutions do not lead to an altered restriction site, but these can be detected using synthetic oligonucleotides as hybridization probes if the DNA sequence surrounding the base substitution is known8,9. In the case of β-thalassaemia, where 22 different… CONTINUE READING


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