Localization of genes in a family with autosomal dominant retinitis pigmentosa

Objective To study the relation of pathogenic genes in a Chinese family with autosomal dominant retinitis pigmentosa(adRP) with eripherin/retinal degeneration slow (RDS), retinal outer segment membrane protein 1(ROM1), cone-rod homeoboxcontaining gene (CRX), neural retinal leucine zipper (NRL), guanylate cyclase activator 1B (GUCA1B), fascin homolog 2(FSCN2)and topoisomerase I binding (TOPORS). Methods Peripheral blood samples (4-5 ml) were taken from the 4 families with adRP.Genomic DNA was purified using an extraction kit.Seventeen exons of 7 adRP candidate genes were amplified by polymerase chain reaction (PCR).The PCR products were directly sequenced after purified and compared with the standard sequences from the GenBank. Results The inherited mode of this family was adRP.In members of this family, no variation was found in the RDS, ROM1, CRX, NRL, GUCA1B, FSCN2 and TOPORS candidate genes, but 5 single nucleotide polymorphisms (SNP) were detected in exons 1 and 3 of RDS gene. Conclusion RDS, ROM1, CRX, NRL, GUCA1B, FSCN2 and TOPORS candidate genes are not the pathogenic genes in this family.The 5 SNP exons of RDS are SNP.