Nucleic Acids Research, 1989, Vol. 17, No. 7 2503-2516
© 1989
MOLECULAR BIOLOGY |
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)
ICI Diagnostics, Gadbrook Park, Northwich, Cheshire CW9 7RA. ICI Cellmark Diagnostics, Blacklands Way, Abingdon Business Park, Abingdon, Oxon 0X14 IDY. 1University of Wales College of Medicine Department of Medical Biochemistry, Newport Road. Cardiff CF2 1SZ, UK and ICI Cellmark Diagnostics, 20271 Golden Rod Lane, Germantown, MD 20874, USA
Received February 23, 1989. Accepted March 2, 1989.
We have improved the "polymerase chain reaction" (PCR) to permit rapid analysis of any known mutation in genomic DNA. We demonstrate a system, ARMS (Amplification Refractory Mutation System), that allows genotyping solely by inspection of reaction mixtures after agarose gel electrophoresis. The system is simple, reliable and non-isotopic. It will clearly distinguish heterozygotes at a locus from homozygotes for either allele. The system requires neither restriction enzyme digestion, allelespecific oligonucleotides as conventionally applied, nor the sequence analysis of PCR products. The basis of the invention is that unexpectedly, oligonucleotides with a mismatched 3'-residue will not function as primers in the PCR under appropriate conditions. We have analysed DNA from patients with 
1-antitrypsin (AAT) deficiency, from carriers of the disease and from normal individuals. Our findings are in complete agreement with allele assignments derived by direct sequencing of PCR products.
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S.-S. Wang, K. Thornton, A. M. Kuhn, J. G. Nadeau, and T. J. Hellyer Homogeneous Real-Time Detection of Single-Nucleotide Polymorphisms by Strand Displacement Amplification on the BD ProbeTec ET System Clin. Chem., October 1, 2003; 49(10): 1599 - 1607. [Abstract] [Full Text] [PDF]
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A.-M. Laurent, M. Li, S. Sherman, G. Roizes, and J. Buard Recombination across the centromere of disjoined and non-disjoined chromosome 21 Hum. Mol. Genet., September 1, 2003; 12(17): 2229 - 2239. [Abstract] [Full Text] [PDF]
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K. Korn, H. Reil, H. Walter, and B. Schmidt Quality Control Trial for Human Immunodeficiency Virus Type 1 Drug Resistance Testing Using Clinical Samples Reveals Problems with Detecting Minority Species and Interpretation of Test Results J. Clin. Microbiol., August 1, 2003; 41(8): 3559 - 3565. [Abstract] [Full Text] [PDF]
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M. Weidmann, V. Rudaz, M. R. T. Nunes, P. F. C. Vasconcelos, and F. T. Hufert Rapid Detection of Human Pathogenic Orthobunyaviruses J. Clin. Microbiol., July 1, 2003; 41(7): 3299 - 3305. [Abstract] [Full Text] [PDF]
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C. Bertoni, C. Lau, and T. A. Rando Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping Hum. Mol. Genet., May 15, 2003; 12(10): 1087 - 1099. [Abstract] [Full Text] [PDF]
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P. Cahill, M. Bakis, J. Hurley, V. Kamath, W. Nielsen, D. Weymouth, J. Dupuis, L. Doucette-Stamm, and D. R. Smith Exo-Proofreading, A Versatile SNP Scoring Technology Genome Res., May 1, 2003; 13(5): 925 - 931. [Abstract] [Full Text] [PDF]
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X.-Y. Fan, Z.-Y. Hu, F.-H. Xu, Z.-Q. Yan, S.-Q. Guo, and Z.-M. Li Rapid Detection of rpoB Gene Mutations in Rifampin-Resistant Mycobacterium tuberculosis Isolates in Shanghai by Using the Amplification Refractory Mutation System J. Clin. Microbiol., March 1, 2003; 41(3): 993 - 997. [Abstract] [Full Text] [PDF]
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C. Bengra, T. E. Mifflin, Y. Khripin, P. Manunta, S. M. Williams, P. A. Jose, and R. A. Felder Genotyping of Essential Hypertension Single-Nucleotide Polymorphisms by a Homogeneous PCR Method with Universal Energy Transfer Primers Clin. Chem., December 1, 2002; 48(12): 2131 - 2140. [Abstract] [Full Text] [PDF]
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F. Gemignani, C. Perra, S. Landi, F. Canzian, A. Kurg, N. Tonisson, R. Galanello, A. Cao, A. Metspalu, and G. Romeo Reliable Detection of {beta}-Thalassemia and G6PD Mutations by a DNA Microarray Clin. Chem., November 1, 2002; 48(11): 2051 - 2054. [Full Text] [PDF]
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J. Tost, O. Brandt, F. Boussicault, D. Derbala, C. Caloustian, D. Lechner, and I. G. Gut Molecular haplotyping at high throughput Nucleic Acids Res., October 1, 2002; 30(19): e96 - e96. [Abstract] [Full Text] [PDF]
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R. Steinborn, P. Schinogl, D. N. Wells, A. Bergthaler, M. Muller, and G. Brem Coexistence of Bos taurus and B. indicus Mitochondrial DNAs in Nuclear Transfer-Derived Somatic Cattle Clones Genetics, October 1, 2002; 162(2): 823 - 829. [Abstract] [Full Text] [PDF]
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D. O'Meara, A. Ahmadian, J. Odeberg, and J. Lundeberg SNP typing by apyrase-mediated allele-specific primer extension on DNA microarrays Nucleic Acids Res., August 1, 2002; 30(15): e75 - e75. [Abstract] [Full Text] [PDF]
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Y. Eitan and Y. Kashi Direct micro-haplotyping by multiple double PCR amplifications of specific alleles (MD-PASA) Nucleic Acids Res., June 15, 2002; 30(12): e62 - e62. [Abstract] [Full Text] [PDF]
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R K B Dang, R S Anthony, J I O Craig, R C F Leonard, and A C Parker Limitations of the use of single base changes in the p53 gene to detect minimal residual disease of breast cancer Mol. Pathol., June 1, 2002; 55(3): 177 - 181. [Abstract] [Full Text] [PDF]
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J S Waye, L M Nakamura, B Eng, L Hunnisett, D Chitayat, T Costa, and M J M Nowaczyk Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada J. Med. Genet., June 1, 2002; 39(6): e31 - 31. [Full Text] [PDF]
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R. W.K. Chiu, T. K. Lau, P. T. Cheung, Z. Q. Gong, T. N. Leung, and Y.M. D. Lo Noninvasive Prenatal Exclusion of Congenital Adrenal Hyperplasia by Maternal Plasma Analysis: A Feasibility Study Clin. Chem., May 1, 2002; 48(5): 778 - 780. [Full Text] [PDF]
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A. Meloni, R. Perniola, V. Faa, E. Corvaglia, A. Cao, and M. C. Rosatelli Delineation of the Molecular Defects in the AIRE Gene in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients from Southern Italy J. Clin. Endocrinol. Metab., February 1, 2002; 87(2): 841 - 846. [Abstract] [Full Text] [PDF]
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L. M. Wilhelmsson, B. Norden, K. Mukherjee, M. T. Dulay, and R. N. Zare Genetic screening using the colour change of a PNA-DNA hybrid-binding cyanine dye Nucleic Acids Res., January 15, 2002; 30(2): e3 - e3. [Abstract] [Full Text] [PDF]
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L. L.M. Poon, T. N. Leung, T. K. Lau, K. C.K. Chow, and Y.M. D. Lo Differential DNA Methylation between Fetus and Mother as a Strategy for Detecting Fetal DNA in Maternal Plasma Clin. Chem., January 1, 2002; 48(1): 35 - 41. [Abstract] [Full Text] [PDF]
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