Mutation frequency of IMPDH1 gene of han population in ganzhou city

Abstract

Objective: Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) have recently been discovered that IMPDH1 gene plays a critical role in pathogenesis of autosomal dominant retinitis pigmentosa (adRP). Aiming towards an understanding of the molecular background of retinitis pigmentosa (RP), this paper investigates the mutation frequency of IMPDH1 genes in the Han patients with adRP in Ganzhou City. Methods: The whole blood samples were collected randomly from 56 adRP patients and 62 unrelated normal controls who were residents of Han population in Ganzhou City, and then their genomic DNA samples were extracted respectively. Genic polymorphism was examined by the polymerase chain reaction and restrictionfragment-length polymorphisms (PCR-RFLP). The statistical significance of the data was further analyzed by SPSS 14.0 software. Results: Mutation rate of IMPDH1 gene had no significance between in adRP patients and in the normal control by exact probabilities in 2 × 2 table (p = 0.232). The mutation frequency of IMPDH1gene in the Han samples was 3.6%. Conclusion: The mutation frequency of IMPDH1 gene of the Han population in Ganzhou city was similar as approximately 2-5% of the adRP cases among Americans of European origin and Europeans. © Springer Science+Business Media, LLC 2010.