Artigo Revisado por pares

Novel Plexor™ SNP genotyping technology: comparisons with TaqMan® and homogenous MassEXTEND™ MALDI-TOF mass spectrometry

2007; Wiley; Volume: 28; Issue: 9 Linguagem: Inglês

10.1002/humu.20533

ISSN

1098-1004

Autores

Elizabeth A. Tindall, Graham Speight, Desiree C. Petersen, Emma J.D. Padilla, Vanessa M. Hayes,

Tópico(s)

Molecular Biology Techniques and Applications

Resumo

Analysis of SNPs for association, linkage, haplotype, and pharmacogenetic studies has led to a dramatic increase in the number and evolution of medium- to high-throughput genotyping technologies. This study introduces Plexor™ as a new method for medium-throughput (single SNP) genotyping. We compare this fluorescent-based chemistry for call rate, accuracy, affordability, throughput, and overall efficiency against two commonly used technologies. These include fluorescent-based TaqMan® allelic discrimination for single SNP analysis (medium-throughput) and the homogenous MassEXTEND™ (hME™) chemistry using matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry for multiple SNP analysis (high-throughput). Analysis of 11 SNPs, including all six possible nucleotide substitutions, showed Plexor™ to be highly comparable for both call rate (94.7%) and accuracy (99.2%) to the TaqMan® (94.6% and 99.8%, respectively) and hME™ (91.9% and 98.1%, respectively) chemistries. We demonstrate that this novel method is an efficient, cost-effective alternative to TaqMan® genotyping commonly used in diagnostic settings. Hum Mutat 28(9), 922–927, 2007. © 2007 Wiley-Liss, Inc.

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