Abstract

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 β-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 β A and β S alleles is determined by restriction endonuclease digestion of an end-labeled oligonucleotide probe hybridized in solution to the amplified β-globin sequences. The β-globin genotype can be determined in less than 1 day on samples containing significantly less than 1 microgram of genomic DNA.

Keywords

Restriction enzymeMolecular biologygenomic DNAEndonucleaseBiologyGlobinGenotypePrimer (cosmetics)DNAMultiple displacement amplificationOligonucleotideGene duplicationPolymerase chain reactionGeneticsSickle cell anemiaRestriction siteGeneChemistryCellDNA extraction

MeSH Terms

AllelesAnemiaSickle CellBase SequenceClinical Laboratory TechniquesDNA Restriction EnzymesDNA-Directed DNA PolymeraseEscherichia coliGene AmplificationGlobinsHumansNucleic Acid HybridizationPolymorphismGenetic

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Publication Info

Year
1985
Type
article
Volume
230
Issue
4732
Pages
1350-1354
Citations
8975
Access
Closed

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Cite This

Randall K. Saiki, Stephen J. Scharf, Fred Faloona et al. (1985). Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia. Science , 230 (4732) , 1350-1354. https://doi.org/10.1126/science.2999980

Identifiers

DOI
10.1126/science.2999980
PMID
2999980

Data Quality

Data completeness: 81%