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Science 20 December 1985:
Vol. 230. no. 4732, pp. 1350 - 1354
DOI: 10.1126/science.2999980
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Articles

Science, Vol 230, Issue 4732, 1350-1354
Copyright © 1985 by American Association for the Advancement of Science

articles

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

RK Saiki, S Scharf, F Faloona, KB Mullis, GT Horn, HA Erlich, and N Arnheim

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.


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P. Neuzil, C. Zhang, J. Pipper, S. Oh, and L. Zhuo (2006)
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M. G. Elgort, M. G. Herrmann, M. Erali, J. D. Durtschi, K. V. Voelkerding, and R. E. Smith (2004)
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K Chinen, K Kamiyama, T Kinjo, A Arasaki, Y Ihama, T Hamada, and T Iwamasa (2004)
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J. C. Pedersen, D. A. Senne, P. R. Woolcock, H. Kinde, D. J. King, M. G. Wise, B. Panigrahy, and B. S. Seal (2004)
J. Clin. Microbiol. 42, 2329-2334
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Microarrays and the Gene Expression Profile of a Single Cell.
E. S. KAWASAKI (2004)
Ann. N.Y. Acad. Sci. 1020, 92-100
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Novel Internal Controls For Real-Time PCR Assays.
F. S. Nolte (2004)
Clin. Chem. 50, 801-802
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J. Clin. Pathol. 57, 529-535
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Evolutionary Strata on the Mouse X Chromosome Correspond to Strata on the Human X Chromosome.
S. A. Sandstedt and P. K. Tucker (2004)
Genome Res. 14, 267-272
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Semen Quality of Men With Asymptomatic Chlamydial Infection.
S. Hosseinzadeh, A. Eley, and A. A. Pacey (2004)
J Androl 25, 104-109
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Neurogenetics: single gene disorders.
S-M Pulst (2003)
J. Neurol. Neurosurg. Psychiatry 74, 1608-1614
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Nanoparticle-Based Bio-Bar Codes for the Ultrasensitive Detection of Proteins.
J.-M. Nam, C. S. Thaxton, and C. A. Mirkin (2003)
Science 301, 1884-1886
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Coordinate Regulation of the Escherichia coli Formate Dehydrogenase fdnGHI and fdhF Genes in Response to Nitrate, Nitrite, and Formate: Roles for NarL and NarP.
H. Wang and R. P. Gunsalus (2003)
J. Bacteriol. 185, 5076-5085
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Evaluation of the Use of PCR and Reverse Transcriptase PCR for Detection of Pathogenic Bacteria in Biosolids from Anaerobic Digestors and Aerobic Composters.
C. Burtscher and S. Wuertz (2003)
Appl. Envir. Microbiol. 69, 4618-4627
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Comparison of Two Quantitative Polymerase Chain Reaction Methods for Detecting HER2/neu Amplification.
A. Millson, A. Suli, L. Hartung, S. Kunitake, A. Bennett, M. C. L. Nordberg, W. Hanna, C. T. Wittwer, A. Seth, and E. Lyon (2003)
J. Mol. Diagn. 5, 184-190
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Presence of Viral Genomes in Mineral Water: a Sufficient Condition To Assume Infectious Risk?.
B. Gassilloud, L. Schwartzbrod, and C. Gantzer (2003)
Appl. Envir. Microbiol. 69, 3965-3969
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The minisequencing method: an alternative strategy for preimplantation genetic diagnosis of single gene disorders.
F. Fiorentino, M.C. Magli, D. Podini, A.P. Ferraretti, A. Nuccitelli, N. Vitale, M. Baldi, and L. Gianaroli (2003)
Mol. Hum. Reprod. 9, 399-410
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N A Maskell, D J Waine, A Lindley, J C T Pepperell, A E Wakefield, R F Miller, and R J O Davies (2003)
Thorax 58, 594-597
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Varicella-Zoster Virus DNA in Cells Isolated from Human Trigeminal Ganglia.
M. J. Levin, G.-Y. Cai, M. D. Manchak, and L. I. Pizer (2003)
J. Virol. 77, 6979-6987
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A. Ndjoyi-Mbiguino, F. Ozouaki, J. Legoff, F.-X. Mbopi-Keou, A. Si-Mohamed, I. N. Onas, E. Avoune, and L. Belec (2003)
J. Clin. Microbiol. 41, 2662-2664
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K. Rudi, I. Rud, and A. Holck (2003)
Nucleic Acids Res. 31, e62
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COMPARISON OF A POLYMERASE CHAIN REACTION AND THE KATO-KATZ TECHNIQUE FOR DIAGNOSING INFECTION WITH SCHISTOSOMA MANSONI.
L. A. PONTES, M. C. OLIVEIRA, N. KATZ, E. DIAS-NETO, and A. RABELLO (2003)
Am J Trop Med Hyg 68, 652-656
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Am J Trop Med Hyg 68, 683-691
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Prospective study on cervical neoplasia: presence of HPV DNA in cytological smears precedes the development of cervical neoplastic lesions.
R Tachezy, M Salakova, E Hamsikova, J Kanka, A Havrankova, and V Vonka (2003)
Sex. Transm. Inf. 79, 191-196
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The Role of Apoptosis Signal-regulating Kinase 1 in Lymphotoxin-beta Receptor-mediated Cell Death.
M.-C. Chen, M.-J. Hwang, Y.-C. Chou, W.-H. Chen, G. Cheng, H. Nakano, T.-Y. Luh, S.-C. Mai, and S.-L. Hsieh (2003)
J. Biol. Chem. 278, 16073-16081
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Mutations Which Uncouple Transport and Phosphorylation in the D-Mannitol Phosphotransferase System of Escherichia coli K-12 and Klebsiella pneumoniae 1033-5P14.
S. Otte, A. Scholle, S. Turgut, and J. W. Lengeler (2003)
J. Bacteriol. 185, 2267-2276
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P. Suphaphiphat, A. Thitithanyanont, S. Paca-Uccaralertkun, M. Essex, and T.-H. Lee (2003)
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D. W. Griffin, K. A. Donaldson, J. H. Paul, and J. B. Rose (2003)
Clin. Microbiol. Rev. 16, 129-143
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Molecular analysis of Tripterygium hypoglaucum (level) Hutch-induced mutations at the HPRT locus in human promyelocytic leukemia cells by multiplex polymerase chain reaction.
S. X. Liu, J. Cao, and H. An (2003)
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K. L. Shaw (2002)
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A. Yamane (2002)
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Y.-C. Kuo, L.-C. Lin, W.-J. Tsai, C.-J. Chou, S.-H. Kung, and Y.-H. Ho (2002)
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A Relationship Between Varicella-Zoster Virus-Specific Delayed Hypersensitivity and Varicella-Zoster Virus-Induced Anterior Uveitis.
T. Kezuka, J.-i. Sakai, H. Minoda, M. Takeuchi, H. Keino, J. W. Streilein, and M. Usui (2002)
Arch Ophthalmol 120, 1183-1188
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Multiple label-free biodetection and quantitative DNA-binding assays on a nanomechanical cantilever array.
R. McKendry, J. Zhang, Y. Arntz, T. Strunz, M. Hegner, H. P. Lang, M. K. Baller, U. Certa, E. Meyer, H.-J. Guntherodt, et al. (2002)
PNAS 99, 9783-9788
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Medulloblastomas and primitive neuroectodermal tumors rarely contain polyomavirus DNA sequences.
J. Y.H. Kim, I. J. Koralnik, M. LeFave, R. A. Segal, L.-A. Pfister, and S. L. Pomeroy (2002)
Neuro-oncol 4, 165-170
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Functional analysis of the Saccharomyces cerevisiae DUP240 multigene family reveals membrane-associated proteins that are not essential for cell viability.
R. Poirey, L. Despons, V. Leh, M.-J. Lafuente, S. Potier, J.-L. Souciet, and J.-C. Jauniaux (2002)
Microbiology 148, 2111-2123
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Epstein-Barr virus (EBV) subtype in EBV related oral squamous cell carcinoma in Okinawa, a subtropical island in southern Japan, compared with Kitakyushu and Kumamoto in mainland Japan.
M Higa, T Kinjo, K Kamiyama, T Iwamasa, T Hamada, and K Iyama (2002)
J. Clin. Pathol. 55, 414-423
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Renin-angiotensin system expression and secretory function in cultured human ciliary body non-pigmented epithelium.
A B Cullinane, P S Leung, J Ortego, M Coca-Prados, and B J Harvey (2002)
Br. J. Ophthalmol. 86, 676-683
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A Luminescent Escherichia coli Biosensor for the High Throughput Detection of {beta}-Lactams.
S. J. Valtonen, J. S. Kurittu, and M. T. Karp (2002)
J Biomol Screen 7, 127-134
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Muscle-specific RING finger-1 interacts with titin to regulate sarcomeric M-line and thick filament structure and may have nuclear functions via its interaction with glucocorticoid modulatory element binding protein-1.
A. S. McElhinny, K. Kakinuma, H. Sorimachi, S. Labeit, and C. C. Gregorio (2002)
J. Cell Biol. 157, 125-136
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Prevalence of Parvovirus B19 and Parvovirus V9 DNA and Antibodies in Paired Bone Marrow and Serum Samples from Healthy Individuals.
E. D. Heegaard, B. L. Petersen, C. J. Heilmann, and A. Hornsleth (2002)
J. Clin. Microbiol. 40, 933-936
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Active versus borderline myocarditis: clinicopathological correlates and prognostic implications.
A Angelini, M Crosato, G M Boffa, F Calabrese, V Calzolari, R Chioin, L Daliento, and G Thiene (2002)
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A. F. Gardner and W. E. Jack (2002)
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E Kanavakis and J Traeger-Synodinos (2002)
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G. O. Bylund, J. M. Lovgren, and P. M. Wikstrom (2001)
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Treatment of Trypanosoma cruzi-infected children with nifurtimox: a 3 year follow-up by PCR.
A. Solari, S. Ortiz, A. Soto, C. Arancibia, R. Campillay, M. Contreras, P. Salinas, A. Rojas, and H. Schenone (2001)
J. Antimicrob. Chemother. 48, 515-519
   Abstract »    Full Text »    PDF »
The prevalence of Chlamydia trachomatis in fresh tissue specimens from patients with ectopic pregnancy or tubal factor infertility as determined by PCR and in-situ hybridisation.
R. E. L. BARLOW, I. D. COOKE, O. ODUKOYA, M. K. HEATLEY, J. JENKINS, G. NARAYANSINGH, S. S. RAMSEWAK, and A. ELEY (2001)
J. Med. Microbiol. 50, 902-908
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Detection and Typing of Human Papillomavirus DNA in Penile Carcinoma : Evidence for Multiple Independent Pathways of Penile Carcinogenesis.
M. A. Rubin, B. Kleter, M. Zhou, G. Ayala, A. L. Cubilla, W. G. V. Quint, and E. C. Pirog (2001)
Am. J. Pathol. 159, 1211-1218
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