EVIDENCE AGAINST INVOLVEMENT OF RECOVERIN IN AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA IN 42 SPANISH FAMILIES

Autosomal recessive retinitis pigmentosa (ARRP) is a degenerative dise ase of photoreceptors in which defects in the genes encoding rhodopsin , the beta subunit of rod phosphodiesterase (PDEB) and, recently, in t he gene for rod cGMP-gated channel, have been reported. However, detai led genetic involvement has not been ascertained in the great majority of cases. Recoverin, another member of the light transduction pathway , is a candidate gene for ARRP. We report the first analyses of the in volvement of the recoverin gene (RCV1) in 42 Spanish ARRP families. Li nkage and homozygosity studies with an intragenic polymorphism and the close markers D17S945 and D17S786 ruled out RCV1 as the cause of ARRP in 38 pedigrees. In the four remaining families, single strand confor mation polymorphism analysis of the recoverin-coding region detected n o mutations in the parents or in the affected members. These results s trongly suggest that mutations in the RCV1 gene are not responsible fo r ARRP in these families.