Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa

[摘要] Purpose: This study was to analyze the spectrum and frequency of rhodopsin gene (RHO) mutations in Chinese patients with retinitis pigmentosa (RP).Methods: Patients were given physical examinations, and blood samples were collected for DNA extraction. The RHO mutations were screened with direct sequencing.Results: Eight heterozygous nucleotide changes were detected in eight of 300 probands with RP, including six novel mutations and two known mutations. p.R21C, p.C110S, p.G182V, p.C187G, c.409–426delGTGGTGGTGTGTAAGCCC, and p.P347L were found in six autosomal dominant families. p.T92I and p.Y178C were found in two isolated cases.Conclusions: The results reveal the spectrum and frequency of RHO mutations in Chinese patients with different forms of RP and demonstrate that RHO mutations account for a high proportion of autosomal dominant RP (adRP) cases.

[学科分类] 生物化学/生物物理