Conservation of CGG region in FMR1 gene in mammals

Am J Med Genet. 1994 Jul 15;51(4):513-6. doi: 10.1002/ajmg.1320510445.

Abstract

Only two of the fragile sites found in humans (FRAXA and FRAXE) have been associated with a clinical phenotype. In mentally retarded individuals with cytogenetic expression of FRAXA a CGG repeat in the FMR1 gene is amplified. Fragile sites are found in many animals species. We have analyzed the FRAXA region containing the CGG repeat in several different species by PCR amplification. In most mammals this region could be amplified; the number of copies of the repeat is deduced.

MeSH terms

  • Animals
  • Base Sequence
  • Chromosome Fragile Sites
  • Chromosome Fragility*
  • Conserved Sequence*
  • DNA Mutational Analysis
  • Disease Models, Animal
  • Female
  • Fragile X Syndrome / genetics
  • Gene Dosage
  • Genes / genetics*
  • Humans
  • Male
  • Mammals / genetics*
  • Polymerase Chain Reaction
  • Repetitive Sequences, Nucleic Acid
  • Sequence Homology, Nucleic Acid
  • X Chromosome / genetics*