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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase.

We report on a method for ethidium bromide detection of FMR1 normal and premutation-size CGG triplet repeats. A set of PCR conditions has been optimized for the polymerase of the hyperthermophilic bacterium, Pyrococcus furiosus. Using this protocol, normal-size alleles ranging from 5 to 50 repeats, as well as most of premutation-size alleles, varying from > 50 to approximately 200 repeats, could be detected by ethidium bromide staining of agarose gels. Since the protocol requires neither autoradiography nor polyacrylamide gel electrophoresis, it promises to provide a rapid means for the exclusion of fragile X syndrome in males with mental retardation.[1]

References

  1. Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. Chong, S.S., Eichler, E.E., Nelson, D.L., Hughes, M.R. Am. J. Med. Genet. (1994) [Pubmed]
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