Article
Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa.
Molecular vision - 1 Jan 2014
Yang Guoxing, Xie Shipeng, Feng Na, Yuan Zhifeng, Zhang Minglian, Zhao Jialiang
Abstract excerpt
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...
Topics
- Adult
- Asian People
- Base Sequence
- China
- DNA Mutational Analysis
- Female
- Genes, Dominant
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
