Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia
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.
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- Authors
- Saiki, R. K., Scharf, S., Faloona, F., Mullis, K. B., Horn, G. T., Erlich, H. A., & Arnheim, N.
- Affiliations
- Department of Human Genetics, Cetus Corporation, Emeryville, California 94608.
- ORCID
- Arnheim, Norman
- Venue
- Science
- Published
- 1985-12-20
- Volume
- 230
- Issue
- 4732
- Pages
- 1350-1354
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2050717506
- Cited by
- 8,956
- References
- 18
- Citations by year
- 2026: 47 · 2025: 87 · 2024: 88 · 2023: 99 · 2022: 86 · 2021: 120 · 2020: 125 · 2019: 98 · 2018: 108 · 2017: 114 · 2016: 128 · 2015: 144 · 2014: 165 · 2013: 171 · 2012: 202
- FWCI
- 69.59
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Molecular Biology Techniques and Applications
- Keywords
- sickle cell disease, beta-globin gene, prenatal diagnosis, restriction fragment length polymorphism, oligonucleotide probe hybridization, restriction enzyme digestion, genomic DNA
- MeSH terms
- Alleles, Anemia, Sickle Cell, Base Sequence, DNA-Directed DNA Polymerase, DNA Restriction Enzymes, Escherichia coli, Gene Amplification, Globins, Humans, Nucleic Acid Hybridization, Polymorphism, Genetic, Clinical Laboratory Techniques
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