Analysis of the IRBP gene as a cause of RP in 45 ARRP Spanish families. Autosomal recessive retinitis pigmentosa. Interstitial retinol binding protein. Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa.
Autosomal recessive retinitis pigmentosa (ARRP) is a degenerative disorder of photoreceptors. Mutations in several genes encoding different proteins of the visual cascade are described. The inheritance of two intragenic markers within the interstitial retinol binding protein (IRBP) gene was established in 45 Spanish families with a history of ARRP. Homozygosity mapping and cosegregation analyses were positive in 19 families. Only one heterozygous T-C transition at position 3024 (exon 1) was detected in one consanguineous family. This variant was identified as a rare polymorphism and was present in 5% of the chromosomes analyzed.
Valverde
D
D
Laboratorio de Genética Molecular, Centro Oncológico de Galicia, La Coruña, Spain.
Vázquez-Gundín
F
F
del Rio
E
E
Calaf
M
M
Fernández
J L
JL
Baiget
M
M
D020090:Chromosome Segregation / Q000235:genetics; D003241:Consanguinity; D004268:DNA-Binding Proteins / Q000235:genetics*; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D009154:Mutation / Q000235:genetics; D009687:Nuclear Proteins; D011110:Polymorphism, Genetic / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013030:Spain
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins