Robust amplification and ethidium‐visible detection of the fragile X syndrome CGG repeat using Pfu polymerase
- 15 July 1994
- journal article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 51 (4), 522-526
- https://doi.org/10.1002/ajmg.1320510447
Abstract
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.Keywords
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