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Mutational analysis using oligonucleotide microarrays
  1. Joseph G Hacia,
  2. Francis S Collins
  1. Genetics and Molecular Biology Branch, National Human Genome Research Institute, Building 49/3A14, National Institutes of Health, Bethesda, Maryland 20892, USA
  1. Dr Collins.


The development of inexpensive high throughput methods to identify individual DNA sequence differences is important to the future growth of medical genetics. This has become increasingly apparent as epidemiologists, pathologists, and clinical geneticists focus more attention on the molecular basis of complex multifactorial diseases. Such undertakings will rely upon genetic maps based upon newly discovered, common, single nucleotide polymorphisms. Furthermore, candidate gene approaches used in identifying disease associated genes necessitate screening large sequence blocks for changes tracking with the disease state. Even after such genes are isolated, large scale mutational analyses will often be needed for risk assessment studies to define the likely medical consequences of carrying a mutated gene.

This review concentrates on the use of oligonucleotide arrays for hybridisation based comparative sequence analysis. Technological advances within the past decade have made it possible to apply this technology to many different aspects of medical genetics. These applications range from the detection and scoring of single nucleotide polymorphisms to mutational analysis of large genes. Although we discuss published scientific reports, unpublished work from the private sector1 2 could also significantly affect the future of this technology.

  • mutational analysis
  • oligonucleotide microarrays
  • DNA chips

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