High level multiplex genotyping by MALDI-TOF mass spectrometry

被引：325

作者：

Ross, P ^{[1
]}

Hall, L ^{[1
]}

Smirnov, I ^{[1
]}

Haff, L ^{[1
]}

机构：

[1] PerSept Biosyst, Framingham, MA 01701 USA

来源：

NATURE BIOTECHNOLOGY | 1998年 / 16卷 / 13期

关键词：

genomics; single nucleotide polymorphisms; multiplex PCR;

D O I：

10.1038/4328

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

A primer extension assay is used to perform highly multiplexed genotyping of single nucleotide polymorphisms (SNPs) present in genomic DNA amplified by a multiplex PCR. The assay uses matrix-assisted laser desorption ionization time-of-flight mass spectrometry to accurately measure the masses of short oligonucleotide primers extended by a single dideoxynucleotide. The multiplexed genotyping assays rely on the natural molecular weight differences of DNA bases. By careful analysis of primer composition complementary to the target, or by judicious addition of one or more noncomplementary 5' bases to the genotyping primers, mass spectra of interleaved genotyping products can be generated with no ambiguity in allele assignment. Using a model multiplex PCR system, we demonstrate the ability to perform 12-fold multiplex SNP analysis.

引用

页码：1347 / 1351

页数：5

共 30 条

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