Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families.
Defects in retinal vitamin A metabolism or in genes expressed in the retinal pigment epithelium (RPE) are related to nonsyndromic retinitis pigmentosa (RP). The RLBP1 gene encodes the cellular retinaldehyde-binding protein which, in the RPE and Müller cells of the retina, is thought to play a role in retinoid metabolism and visual pigment regeneration. We describe a study of the involvement of the RLBP1 gene in 50 autosomal recessive retinitis pigmentosa (ARRP) and four retinitis punctata albescens Spanish families. Cosegregation and homozygosity studies using an intragenic polymorphism and three close markers (D15S116, D15S127, and D15S130) ruled out RLBP1 as the cause of ARRP in 26 pedigrees. In the remaining families, SSCP analysis of the coding region and sequencing of the abnormal migrating bands did not detect any disease-causing mutation. These results indicate that mutations in the RLBP1 gene are not responsible for the ARRP or retinitis punctata albescens in this set of Spanish families. We did, however, identify two frequent polymorphisms (3'UTR + 167 G > T, T: 0.23 and G: 0.77; IVS6 + 20 T > C, T: 0.36 and C: 0.64), a silent substitution (S218S), and a rare variant (5'UTR-101 G > A).
Servei de Genètica i, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
S
S
Bernal
M
M
Calaf
A
A
Adan
T
T
Solans
D
D
Valverde
C
C
Ayuso
M
M
Baiget
D002352:Carrier Proteins / Q000235:genetics*; D003241:Consanguinity; D004247:DNA / Q000032:analysis; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012164:Retinal Diseases / Q000208:ethnology / Q000235:genetics*; D012171:Retinal Vessels; D012174:Retinitis Pigmentosa / Q000208:ethnology / Q000235:genetics*; D013030:Spain / Q000208:ethnology
C020932:11-cis-retinal-binding protein; D002352:Carrier Proteins; D017931:DNA Primers; D004247:DNA