Diagnosis of Sickle Cell Anemia and β-Thalassemia with Enzymatically Amplified DNA and Nonradioactive Allele-Specific Oligonucleotide Probes

Randall K. Saiki, Chu an Chang, Corey H. Levenson, Tina C. Warren, Corinne D. Boehm, Haig H. Kazazian, Henry 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. (N Engl J Med 1988; 319:537–41).

Original languageEnglish (US)
Pages (from-to)537-541
Number of pages5
JournalNew England Journal of Medicine
Volume319
Issue number9
DOIs
StatePublished - Sep 1 1988

ASJC Scopus subject areas

  • Medicine(all)

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