Cited by 8,956Hemoglobinopathies and Related DisordersPrenatal Screening and DiagnosticsMolecular Biology Techniques and Applications

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

Saiki, Randall K., Scharf, Stephen, Faloona, Fred, Mullis, Kary B., Horn, Glenn T., Erlich, Henry A., Arnheim, Norman·1985·Science

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.

Integrity signals

Registry

Crossref · 10.1126/science.2999980

Cites

18 of 18 references verified0 citation errors · 0 not checkable

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Cites

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Research works printed but not linked: 4

  1. Conner, B. J., Proceedings of the National Academy of Sciences of the United States of America 80: 278 (1983).
  2. Geever, R. F., Proceedings of the National Academy of Sciences of the United States of America 78: 5081 (1981).
  3. KAN, Y.W., PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 75: 5631 (1978).
  4. Tuan, D., Proceedings of the National Academy of Sciences of the United States of America 80: 6937 (1983).

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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.
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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