Mutation of rhodopsin and peripherin/rhodopsin genes in a family with retinitis pigmentosa

Objective To detect the mutations of rhodopsin（RDS）,peripherin/RDS,retinal outer segment membrane protein 1（ROM1）,neural retinal leucine（NRL） zipper and cone-rod homeobox-containing（CRX） genes in a family with retinitis pigmentosa（RP）. Methods Peripheral blood samples were taken from 28 members of a family with autosomal dominant retinitis pigmentosa（adRP） to isolate genomic DNA.RHO,peripherin/RDS,ROM1,NRL and CRX genes were detected by PCR and direct sequencing respectively and compared with the standard nucleic acid sequences. Results No pathogenic mutation of RHO,peripherin/RDS,ROM1,NRL and CRX genes was detected in the family members.However,single nucleotide polymorphisms（SNP） were detected in exons 1 and 3 coding areas of the peripherin/RDS gene. Conclusion No pathogenic mutation of RHO,peripherin/RDS,ROM1,NRL and CRX genes is detected in this family.The variation of peripherin/RDS in exon-coding areas belongs to SNP of single nucleotide.