Abstract:AIM:To identify the mutations of cone-rod homeobox gene(CRX) in the patients with retinitis pigmentosa(RP) in Ningxia and to evaluate their potential interaction in the pathogenesis of RP.METHODS:One hundred individuals with RP were recruited for this study from October 2009 to November 2010.Polymerase chain reaction(PCR) and direct DNA sequencing were used to screen in the entire coding region and splice sites of CRX gene.Multiple analysis was used to examine the role of CRX gene mutation on RP.RESULTS:In total 5 sequence variants gene were identified,2 synonymous variants(p.Leu78Leu and p.Ala92Ala),3 missense variants(p.Ala112Val,p.Gly122Asp and p.Thr187Ile).p.Ala112Val,p.Gly122Asp were reported as Single Nucleotide Polymorphisms(SNP) and showed no positive correlation with the RP confirmed by the multivariate logistic regression.The p.Thr187Ile variant was found in two ARRP(autosomal recessive RP) patients and was absent in normal control individuals.CONCLUSION:The prevalence of CRX mutation in Ningxia population(<1%) is lower than other populations.p.Thr187Ile was not a disease-causing mutation,but further study should be conducted to determine whether the p.Thr187Ile variant can effect the express of other gene and increase the risk of developing ARRP.
