The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
Minisequencing: A Specific Tool for DNA Analysis and Diagnostics on Oligonucleotide Arrays
Open accessAbstract
We describe a method for multiplex detection of mutations in which the solid-phase minisequencing principle is applied to an oligonucleotide array format. The mutations are detected by extending immobilized primers that anneal to their template sequences immediately adjacent to the mutant nucleotide positions with single labeled dideoxynucleoside triphosphates using a DNA polymerase. The arrays were prepared by coupling one primer per mutation to be detected on a small glass area. Genomic fragments spanning nine disease mutations, which were selected as targets for the assay, were amplified in multiplex PCR reactions and used as templates for the minisequencing reactions on the primer array. The genotypes of homozygous and heterozygous genomic DNA samples were unequivocally defined at each analyzed nucleotide position by the highly specific primer extension reaction. In a comparison to hybridization with immobilized allele-specific probes in the same assay format, the power of discrimination between homozygous and heterozygous genotypes was one order of magnitude higher using the minisequencing method. Therefore, single-nucleotide primer extension is a promising principle for future high-throughput mutation detection and genotyping using high density DNA-chip technology.
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Cites
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Self-citation
Cited by
Accessing genetic variation: genotyping single nucleotide polymorphisms
Syvänen, A.-C. (2001) · Nature Reviews Genetics · doi:10.1038/35103535 · Cited by 1,083
Self-citationVariations on a Theme: Cataloging Human DNA Sequence Variation
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A review on SNP and other types of molecular markers and their use in animal genetics
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A genome-wide scalable SNP genotyping assay using microarray technology
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SNP Genotyping: Technologies and Biomedical Applications
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Metadata
- Authors
- Pastinen, T., Kurg, A., Metspalu, A., Peltonen, L., & Syvänen, A.-C.
- Venue
- Genome Research
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 1997-06-01
- Volume
- 7
- Issue
- 6
- Pages
- 606-614
- ISSN
- 1088-9051 (ISSN-L)
- 1549-5469
- OpenAlex
- W2127082697
- Cited by
- 342
- References
- 32
- Type
- posted content
- Language
- en
- Open access
- bronze
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- Pastinen, T., Kurg, A., Metspalu, A., Peltonen, L., & Syvänen, A.-C. (1997). Minisequencing: A Specific Tool for DNA Analysis and Diagnostics on Oligonucleotide Arrays. Genome Research. https://doi.org/10.1101/gr.7.6.606
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