title: [Molecular analysis of the RPE65 gene in 72 Spanish families with autosomal recessive retinitis pigmentosa].
abstract: BACKGROUND
  Autosomal recessive retinitis pigmentosa (arRP) is the most common form of retinitis pigmentosa (RP). It is characterized by a high degree of allelic and non-allelic genetic heterogeneity. Previously,it has been demonstrated that the RPE65 gene is responsible for 2% recessive or isolated RP cases and 16% Leber's congenite amaurosis cases. Although the concrete function of RPE65 is unknown as yet, it has been found to be involved in vitamin A metabolism and rhodopsin regeneration.
  
  
  METHODS
  We studied the involvement of the RPE65 gene in 72 arRP Spanish families by means of indirect molecular and mutation analysis.
  
  
  RESULTS
  The results obtained using the intragenic microsatellite marker D1S2803 allowed us to exclude RPE65 as the causative gene of the disease in 80.5% of the families studied. Three new variants of the RPE65 gene have been identified: IVS6-43delA, IVS6-42delT and IVS6-33CG. We found that IVS6-33C-->G was a common polymorphism. The other variants, namely IVS6-43delA and IVS6-42delT, were not identified in 150 control chromosomes studied. The segregation analysis of IVS6-42delT variant seemed to exclude it as being involved in the disease.
  
  
  CONCLUSIONS
  Our results argue against the involvement of RPE65 gene in the families studied, indicating that the prevalence of RPE65 abnormalities in arRP Spanish families may be lower than that observed in other populations.
authors.affiliation: Unidad de Genética Médica y Diagnóstico Prenatal. Hospital Universitario Virgen del Rocío. Sevilla.
authors.forename: I
authors.initials: I
authors.lastname: Marcos
authors.forename: A
authors.initials: A
authors.lastname: Ruiz
authors.forename: S
authors.initials: S
authors.lastname: Borrego
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: G
authors.initials: G
authors.lastname: Antiñolo
mesh_terms: D002352:Carrier Proteins; D005136:Eye Proteins; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013030:Spain; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
chemical_list: D002352:Carrier Proteins; D005136:Eye Proteins; D011506:Proteins; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase