A new set of primers for mutation analysis of the human PAX6 gene

Hum Mutat. 1998;12(2):128-34. doi: 10.1002/(SICI)1098-1004(1998)12:2<128::AID-HUMU8>3.0.CO;2-N.


Mutations in the human PAX6 gene are an important cause of dominantly inherited congenital malformations of the eye, including aniridia, Peters' anomaly, keratitis, and isolated foveal hypoplasia. To satisfy the need for efficient detection of PAX6 mutations, we have developed a new set of oligonucleotides for genomic SSCP based on the recently completed genomic sequence of the entire human PAX6 gene. We also describe PAX6 mutations in eight aniridia patients, five of which are novel.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Cells
  • Cells, Cultured
  • DNA Primers / genetics*
  • DNA-Binding Proteins / genetics*
  • Exons
  • Eye Proteins
  • Female
  • Frameshift Mutation / genetics
  • Homeodomain Proteins*
  • Humans
  • Lymphocytes
  • Male
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Phenotype
  • Point Mutation / genetics
  • Polymerase Chain Reaction / methods
  • Polymorphism, Single-Stranded Conformational*
  • Repressor Proteins
  • Sequence Analysis, DNA


  • DNA Primers
  • DNA-Binding Proteins
  • Eye Proteins
  • Homeodomain Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Repressor Proteins