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The key requirements for high-throughput single-nucleotide polymorphism (SNP) typing of DNA samples in large-scale disease case-control studies are automatability, simplicity, and robustness, coupled with minimal cost. In this paper we describe a fluorescence technique for the detection of SNPs that have been amplified by using the amplification refractory mutation system (ARMS)-PCR procedure. Its performance was evaluated using 32 sequence-specific primer mixes to assign the HLA-DRB alleles to 80 lymphoblastoid cell line DNAs chosen from our database for their diversity. All had been typed previously by alternative methods, either direct sequencing or gel electrophoresis. We believe the detection system that we call AMDI (alkaline-mediated differential interaction) satisfies the above criteria and is suitable for general high-throughput SNP typing.

Original publication

DOI

10.1073/pnas.041619998

Type

Journal article

Journal

Proc Natl Acad Sci U S A

Publication Date

27/02/2001

Volume

98

Pages

2694 - 2697

Keywords

Alkalies, Alleles, Automation, Base Sequence, DNA Primers, HLA-DR Antigens, HLA-DRB1 Chains, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Spectrometry, Fluorescence