An exonic polymorphism (381A/G) in the choroideremia gene

Genet Couns. 1997;8(3):223-5.


By using the single strand conformational analysis (SSCA) to search for point mutations in the choroideremia gene, we have identified a previously undescribed polymorphism within exon 5a (381A/G). We have studied the frequency of this polymorphism in a population from Southern France. The sequence variation creates a new restriction site for HhaI, allowing a convenient DNA-based genetic counseling in families in which the causal disease mutation is unknown.

Publication types

  • Case Reports

MeSH terms

  • Choroideremia / genetics*
  • Exons*
  • Female
  • Genetic Counseling
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Genetic*
  • X Chromosome