Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa.

Abstract

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.

• Authors: Guoxing Yang, Shipeng Xie, Na Feng, Zhifeng Yuan, Minglian Zhang, Jialiang Zhao
• Journal: Molecular vision (Mol Vis) Vol. 20 Pg. 1132-6 ( 2014) ISSN: 1090-0535 [Electronic] United States
• PMID: 25221422 (Publication Type: Journal Article)

Chemical References

• Rhodopsin

Topics

• Adult
• Asian People (genetics)
• Base Sequence
• China
• DNA Mutational Analysis
• Female
• Genes, Dominant
• Humans
• Male
• Middle Aged
• Mutation
• Pedigree
• Retinitis Pigmentosa (genetics, pathology)
• Rhodopsin (genetics)
• Young Adult