Diagnosis of sickle cell anemia and β-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes

R. K. Saiki, C. A. Chang, C. H. Levenson, T. C. Warren, C. D. Boehm, Haig Kazazian, H. A. Erlich

Research output: Contribution to journalArticle

Abstract

We have developed a simple and rapid nonradioactive method for detecting genetic variation and have applied it to the diagnosis of sickle cell anemia and β-thalassemia. The procedure involves the selective amplification of a segment of the human β-globin gene with oligonucleotide primers and a thermostable DNA polymerase, followed by hybridization of the amplified DNA with allele-specific oligonucleotide probes covalently labeled with horseradish peroxidase. The hybridized probes were detected with a simple colorimetric assay. We demonstrated the usefulness of this method in a retrospective analysis of two pregnancies at risk for β-thalassemia and one at risk for sickle cell anemia, as well as in an analysis of nine DNA samples simulating three family sets.

Original languageEnglish (US)
Pages (from-to)537-541
Number of pages5
JournalNew England Journal of Medicine
Volume319
Issue number9
StatePublished - 1988
Externally publishedYes

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Thalassemia
Oligonucleotide Probes
Sickle Cell Anemia
Alleles
DNA
DNA Primers
Globins
DNA-Directed DNA Polymerase
Horseradish Peroxidase
Pregnancy
Genes

ASJC Scopus subject areas

  • Medicine(all)

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Diagnosis of sickle cell anemia and β-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes. / Saiki, R. K.; Chang, C. A.; Levenson, C. H.; Warren, T. C.; Boehm, C. D.; Kazazian, Haig; Erlich, H. A.

In: New England Journal of Medicine, Vol. 319, No. 9, 1988, p. 537-541.

Research output: Contribution to journalArticle

Saiki, R. K. ; Chang, C. A. ; Levenson, C. H. ; Warren, T. C. ; Boehm, C. D. ; Kazazian, Haig ; Erlich, H. A. / Diagnosis of sickle cell anemia and β-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes. In: New England Journal of Medicine. 1988 ; Vol. 319, No. 9. pp. 537-541.
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AU - Kazazian, Haig

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