An improved fragile X Southern blot probe without the CGGs eliminates background bands

Mol Cell Probes. 1994 Jun;8(3):241-4. doi: 10.1006/mcpr.1994.1034.

Abstract

The largest of the commonly used probes for Southern blot diagnosis of fragile X mental retardation syndrome spans the CGG repeat cluster in the FMR-1 gene. This probe causes the appearance of 'common' or 'constant' background bands which occasionally complicate the interpretation of autoradiographic results. By removing a 357 bp Sphl to Nhel fragment containing the CGGs from the probe pE5.1, we constructed a probe which eliminates the background bands yet allows the use of a large probe (4.8 kb) to detect changes in the diagnostic 5.2 kb genomic EcoRl band. This CGG-deficient probe has been used in routine diagnostic cases as well as in second round testing of pE5.1-probed cases where enlarged mutant bands are suspected to comigrate with the background bands.

MeSH terms

  • Autoradiography
  • Blotting, Southern / methods*
  • Cytosine Nucleotides / analysis*
  • DNA / analysis*
  • DNA / genetics
  • Fragile X Syndrome / genetics*
  • Guanine Nucleotides / analysis*
  • Humans
  • Mutation
  • Polymerase Chain Reaction

Substances

  • Cytosine Nucleotides
  • Guanine Nucleotides
  • DNA