Objective: To detect mutations of the RP2 gene in two Chinese families with X-linked retinitis pigmentosa (XLRP).
Methods: Eight pairs of primers designed from exon and intron sequence of the RP2 gene were used for the amplification of eight segments which encompass all exons of the gene. PCR were carried out with human genomic DNA as the template. The PCR products were sequenced after being purified. Mutation was identified by comparing DNA sequences of patients with that of normal controls.
Results: The mutation 358C-->T was detected in exon 2 of the RP2 gene in both families. It changed the codon CGA for Arginine to a terminator codon TGA and causes retinitis pigmentosa in the two families.
Conclusion: The mutation 358C-->T is useful in analyzing the function of RP2 protein and gene diagnosis of XLRP.