Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes
| Autor: | Corinne D. Boehm, Haig H. Kazazian, Tina C. Warren, Corey Levenson, Henry A. Erlich, Chu an Chang, Randall Keichi Saiki |
|---|---|
| Rok vydání: | 1988 |
| Předmět: |
DNA polymerase
Oligonucleotides Anemia Sickle Cell DNA-Directed DNA Polymerase Nucleic acid thermodynamics chemistry.chemical_compound Pregnancy hemic and lymphatic diseases Prenatal Diagnosis Allele-specific oligonucleotide medicine Humans Gene Alleles Horseradish Peroxidase Retrospective Studies biology Oligonucleotide Gene Amplification Beta thalassemia Nucleic Acid Hybridization General Medicine DNA medicine.disease Molecular biology Globins Fetal Diseases chemistry biology.protein Thalassemia Colorimetry Female Molecular probe |
| Zdroj: | The New England journal of medicine. 319(9) |
| ISSN: | 0028-4793 |
| Popis: | 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 beta-thalassemia. The procedure involves the selective amplification of a segment of the human beta-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 beta-thalassemia and one at risk for sickle cell anemia, as well as in an analysis of nine DNA samples simulating three family sets. |
| Databáze: | OpenAIRE |
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