Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia
- 20 December 1985
- journal article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 230 (4732), 1350-1354
- https://doi.org/10.1126/science.2999980
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 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.Keywords
This publication has 14 references indexed in Scilit:
- A Novel Method for the Detection of Polymorphic Restriction Sites by Cleavage of Oligonucleotide Probes: Application to Sickle-Cell AnemiaNature Biotechnology, 1985
- Detection of single base substitutions in total genomic DNANature, 1985
- Prenatal Diagnosis of β-ThalassemiaThe New England Journal of Medicine, 1983
- α1-Antitrypsin deficiency detection by direct analysis of the mutation in the geneNature, 1983
- Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis.JCI Insight, 1983
- Improved Detection of the Sickle Mutation by DNA AnalysisThe New England Journal of Medicine, 1982
- A Sensitive New Prenatal Test for Sickle-Cell AnemiaThe New England Journal of Medicine, 1982
- Prenatal diagnosis of homozygous alpha-thalassemiaJAMA, 1979
- Prenatal Diagnosis of α-ThalassemiaThe New England Journal of Medicine, 1976
- SURGICAL LECTURES.: (CONTINUED.)The Lancet, 1824