A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.

@article{FilipovicSadic2010ANF,
  title={A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.},
  author={Stela Filipovic-Sadic and Sachin Sah and Liangjing Chen and Julie Krosting and Edward A. Sekinger and Wenting Zhang and Paul J. Hagerman and Timothy T. Stenzel and Andrew G. Hadd and Gary J. Latham and Flora Tassone},
  journal={Clinical chemistry},
  year={2010},
  volume={56 3},
  pages={399-408}
}
BACKGROUND Fragile X syndrome (FXS) is a trinucleotide-repeat disease caused by the expansion of CGG sequences in the 5' untranslated region of the FMR1 (fragile X mental retardation 1) gene. Molecular diagnoses of FXS and other emerging FMR1 disorders typically rely on 2 tests, PCR and Southern blotting; however, performance or throughput limitations of these methods currently constrain routine testing. METHODS We evaluated a novel FMR1 gene-specific PCR technology with DNA templates from 20… CONTINUE READING