Quantitative Approach to Single-Nucleotide Polymorphism Analysis Using MALDI-TOF Mass Spectrometry
Pooling of DNA samples before genotyping is a valuable means of streamlining large-scale genotyping efforts in disease association studies, single-nucleotide polymorphism (SNP) validation or mutant allele screening programs. In this report, we explore the application of matrix-assisted laser desorpt...
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2000-09-01
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| Series: | BioTechniques |
| Online Access: | https://www.future-science.com/doi/10.2144/00293rr05 |
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| _version_ | 1850151939547856896 |
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| author | Philip Ross Laura Hall Lawrence A. Haff |
| author_facet | Philip Ross Laura Hall Lawrence A. Haff |
| author_sort | Philip Ross |
| collection | DOAJ |
| description | Pooling of DNA samples before genotyping is a valuable means of streamlining large-scale genotyping efforts in disease association studies, single-nucleotide polymorphism (SNP) validation or mutant allele screening programs. In this report, we explore the application of matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) to quantitative analysis of SNPs. The measurements are based on MALDI-TOF MS analysis of primer extension assays performed on standard mixtures of pooled PCR products at several test loci. The inherent high molecular weight resolution of MALDI-TOF MS conveys high specificity and good signal-to-noise ratio for performing accurate quantitation. The methods described maximize the sensitivity and quantitative capacity of MALDI-TOF MS while preserving the throughput and economic advantages of the MALDI-TOF platform. Using the format described, we demonstrate that allele frequencies as low as 5% can be detected quantitatively and unambiguously. |
| format | Article |
| id | doaj-art-06a85e71210d4ae9bf39c9ea3733a47d |
| institution | OA Journals |
| issn | 0736-6205 1940-9818 |
| language | English |
| publishDate | 2000-09-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | BioTechniques |
| spelling | doaj-art-06a85e71210d4ae9bf39c9ea3733a47d2025-08-20T02:26:06ZengTaylor & Francis GroupBioTechniques0736-62051940-98182000-09-0129362062910.2144/00293rr05Quantitative Approach to Single-Nucleotide Polymorphism Analysis Using MALDI-TOF Mass SpectrometryPhilip Ross0Laura Hall1Lawrence A. Haff21Applied Biosytems, Framingham, MA, USA1Applied Biosytems, Framingham, MA, USA1Applied Biosytems, Framingham, MA, USAPooling of DNA samples before genotyping is a valuable means of streamlining large-scale genotyping efforts in disease association studies, single-nucleotide polymorphism (SNP) validation or mutant allele screening programs. In this report, we explore the application of matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) to quantitative analysis of SNPs. The measurements are based on MALDI-TOF MS analysis of primer extension assays performed on standard mixtures of pooled PCR products at several test loci. The inherent high molecular weight resolution of MALDI-TOF MS conveys high specificity and good signal-to-noise ratio for performing accurate quantitation. The methods described maximize the sensitivity and quantitative capacity of MALDI-TOF MS while preserving the throughput and economic advantages of the MALDI-TOF platform. Using the format described, we demonstrate that allele frequencies as low as 5% can be detected quantitatively and unambiguously.https://www.future-science.com/doi/10.2144/00293rr05 |
| spellingShingle | Philip Ross Laura Hall Lawrence A. Haff Quantitative Approach to Single-Nucleotide Polymorphism Analysis Using MALDI-TOF Mass Spectrometry BioTechniques |
| title | Quantitative Approach to Single-Nucleotide Polymorphism Analysis Using MALDI-TOF Mass Spectrometry |
| title_full | Quantitative Approach to Single-Nucleotide Polymorphism Analysis Using MALDI-TOF Mass Spectrometry |
| title_fullStr | Quantitative Approach to Single-Nucleotide Polymorphism Analysis Using MALDI-TOF Mass Spectrometry |
| title_full_unstemmed | Quantitative Approach to Single-Nucleotide Polymorphism Analysis Using MALDI-TOF Mass Spectrometry |
| title_short | Quantitative Approach to Single-Nucleotide Polymorphism Analysis Using MALDI-TOF Mass Spectrometry |
| title_sort | quantitative approach to single nucleotide polymorphism analysis using maldi tof mass spectrometry |
| url | https://www.future-science.com/doi/10.2144/00293rr05 |
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