Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

Science. 1985 Dec 20;230(4732):1350-4. doi: 10.1126/science.2999980.


Two new methods were used to establish a rapid and highly sensitive prenatal diagnostic test for sickle cell anemia. The first involves the primer-mediated enzymatic amplification of specific beta-globin target sequences in genomic DNA, resulting in the exponential increase (220,000 times) of target DNA copies. In the second technique, the presence of the beta A and beta S alleles is determined by restriction endonuclease digestion of an end-labeled oligonucleotide probe hybridized in solution to the amplified beta-globin sequences. The beta-globin genotype can be determined in less than 1 day on samples containing significantly less than 1 microgram of genomic DNA.

MeSH terms

  • Alleles
  • Anemia, Sickle Cell / diagnosis*
  • Anemia, Sickle Cell / genetics
  • Base Sequence
  • Clinical Laboratory Techniques
  • DNA Restriction Enzymes
  • DNA-Directed DNA Polymerase
  • Escherichia coli
  • Gene Amplification*
  • Globins / genetics*
  • Humans
  • Nucleic Acid Hybridization
  • Polymorphism, Genetic


  • Globins
  • DNA-Directed DNA Polymerase
  • DNA Restriction Enzymes