Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa.

Autores de IIS La Fe

• 

  José María Millán Salvador

  Autor

• Carmen Najera Mortes

  Autor

Participantes ajenos a IIS La Fe

• Fuchs S
• Paricio N
• Wedemann H
• Gal A
• Prieto F

Abstract

Two autosomal dominant retinitis pigmentosa families of different origin were screened for rhodopsin mutations using the method of single strand conformation polymorphism and direct sequencing. We found a CGG-CAG substitution in codon 114 of rhodopsin in both families. This change predicted the replacement of a glycine by an aspartic acid and suggested that this change is the cause of the disease in these families.