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  • Title: A simple fragile X PCR assay with 7-deazaguanine-substituted DNA visualized by ethidium bromide.
    Author: Cao J, Tarleton J, Barberio D, Davidow LS.
    Journal: Mol Cell Probes; 1994 Apr; 8(2):177-80. PubMed ID: 7935515.
    Abstract:
    A deazaguanine-substituted DNA PCR product from FMR-1 (the fragile X mental retardation syndrome gene) can be efficiently visualized with ethidium bromide on standard agarose gels. Normal-sized alleles (less than 54 CGG repeats) generated strong, easily visible bands in the expected size range of 491-635 bp. Southern blot analysis and radioactive PCR on sequencing gels were used to verify that the 74 males (out of 245 total tested) whose DNA failed to generate a visible band contained premutations or full mutations. This technique can be used as an inexpensive screen for fragile X syndrome among developmentally delayed males.
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