Re-sequencing of multiple single nucleotide polymorphisms by liquid chromatography-electrospray ionization mass spectrometry
- 15 July 2002
- journal article
- research article
- Published by Oxford University Press (OUP) in Nucleic Acids Research
- Vol. 30 (14) , 67e-67
- https://doi.org/10.1093/nar/gnf066
Abstract
Allelic discrimination of single nucleotide polymorphisms (SNPs) and, particularly, determination of the phase of multiple variations are of utmost importance in genetics. The physicochemical separation of alleles by completely denaturing ion-pair reversed-phase high-performance liquid chromatography and their on-line sequence determination by electrospray ionization mass spectrometry is demonstrated. Simultaneous genotyping of two and three simple sequence polymorphisms contained within 73–114 bp was accomplished with low femtomolar amounts of unpurified amplicons from polymerase chain reaction. Determination of allelic composition is enabled by the high accuracy (better than 0.019%) of intact mass measurements or by comparative sequencing using gas-phase fragmentation and tandem mass spectrometry in combination with fully automated, computer-aided data interpretation.Keywords
This publication has 22 references indexed in Scilit:
- Accuracy of Haplotype Frequency Estimation for Biallelic Loci, via the Expectation-Maximization Algorithm for Unphased Diploid Genotype DataAmerican Journal of Human Genetics, 2000
- High-Performance Liquid Chromatography−Electrospray Ionization Mass Spectrometry of Single- and Double-Stranded Nucleic Acids Using Monolithic Capillary ColumnsAnalytical Chemistry, 2000
- MS for Identification of Single Nucleotide Polymorphisms and MS/MS for Discrimination of Isomeric PCR ProductsAnalytical Chemistry, 2000
- Fingerprinting Method for Phylogenetic Classification and Identification of Microorganisms Based on Variation in 16S rRNA Gene SequencesBioTechniques, 2000
- Allelic discrimination by denaturing high-performance liquid chromatographyJournal of Chromatography B: Biomedical Sciences and Applications, 2000
- A novel procedure for efficient genotyping of single nucleotide polymorphismsNucleic Acids Research, 2000
- Preparation of single-stranded PCR products for electrospray ionization mass spectrometry using the DNA repair enzyme lambda exonucleaseThe Analyst, 2000
- Sheath liquid effects in capillary high-performance liquid chromatography–electrospray mass spectrometry of oligonucleotidesJournal of Chromatography A, 2000
- Precise mass measurement of a double-stranded 500 base-pair (309 kDa) polymerase chain reaction product by negative ion electrospray ionization Fourier transform ion cyclotron resonance mass spectrometryRapid Communications in Mass Spectrometry, 1999
- Distribution of haplotypes from a chromosome 21 region distinguishes multiple prehistoric human migrationsProceedings of the National Academy of Sciences, 1999