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 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
This publication has 13 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-ThalassemiaNew 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.Journal of Clinical Investigation, 1983
- Improved Detection of the Sickle Mutation by DNA AnalysisNew England Journal of Medicine, 1982
- A Sensitive New Prenatal Test for Sickle-Cell AnemiaNew England Journal of Medicine, 1982
- Prenatal diagnosis of homozygous alpha-thalassemiaJAMA, 1979
- Prenatal Diagnosis of α-ThalassemiaNew England Journal of Medicine, 1976
- SURGICAL LECTURES.The Lancet, 1824