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Resequencing and mutational analysis using oligonucleotide microarrays

Nature Genetics volume 21, pages 42–47 (1999)Cite this article

Abstract

Oligonucleotide microarray (DNA chip)–based hybridization analysis is a promising new technology which potentially allows rapid and cost–effective screens for all possible mutations and sequence variations in genomic DNA. Here, I review current strategies and uses for DNA chip–based resequencing and mutational analysis, the underlying principles of experimental designs, and future efforts to improve the sensitivity and specificity of chip–based assays.

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Figure 1: Three experimental strategies for array–based sequence analysis.
Figure 2: Typical oligonucleotide probes used in gain–of–signal sequence analysis.
Figure 3: Oligonucleotide probes used in loss of hybridization signal sequence analysis.
Figure 4: Hybridization patterns to BRCA1 oligonucleotide arrays.
Figure 5: Detection of the 185delAG BRCA1 mutation and sequence variations using loss of signal analysis.

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Acknowledgements

I thank L. Brody, F. Collins, K. Edgemon, A. Mayer and B. Sun from NIH for helpful suggestions and discussion. I also thank M. Chee at Illumina, M. Cronin at Protogene, S. Fodor at Affymetrix and N. Hunt at GeneTrace for comments and discussion.

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  1. Genetics and Molecular Biology Branch, National Human Genome Research Institute, Building 49/3A14, National Institutes of Health, Bethesda, 20892, Maryland, USA

    Joseph G. Hacia

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Hacia, J. Resequencing and mutational analysis using oligonucleotide microarrays . Nat Genet 21 (Suppl 1), 42–47 (1999). https://doi.org/10.1038/4469

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