Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing

Am J Hum Genet. 1992 Jun;50(6):1195-202.


By making use of positional cloning strategies we recently isolated a candidate gene for choroideremia (CHM), which is transcribed in retina, choroid, and/or retinal pigment epithelium. The gene contains an open reading frame that is structurally altered in 10 CHM patients with sizable deletions and in a female patient with a balanced translocation involving the Xq21 band. Employing PCR-SSCP analysis and direct DNA sequencing we have now detected and characterized different point mutations in five patients with CHM. Each of these mutations introduces a termination codon into the open reading frame of the CHM candidate gene, thereby predicting a distinct truncated protein product. Together these findings provide convincing evidence for the candidate gene being identical with the choroideremia gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Choroid / physiopathology*
  • Choroideremia / genetics*
  • Chromosome Banding
  • Chromosome Deletion
  • Chromosome Mapping
  • DNA / genetics*
  • DNA / isolation & purification
  • DNA, Single-Stranded / genetics
  • Exons
  • Female
  • Genes*
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Oligodeoxyribonucleotides
  • Open Reading Frames
  • Pigment Epithelium of Eye / physiology
  • Polymerase Chain Reaction / methods
  • Retina / physiopathology*
  • Translocation, Genetic
  • X Chromosome*


  • DNA, Single-Stranded
  • Oligodeoxyribonucleotides
  • DNA

Associated data

  • GENBANK/S37416
  • GENBANK/S37417
  • GENBANK/S37422
  • GENBANK/S37423