Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.

Abstract

PURPOSE:

To investigate the significance of carbonic anhydrase IV gene mutations in sporadic retinitis pigmentosa (RP) among the Chinese population.

METHODS:

A total of 116 patients with simplex RP and adRP of Chinese ethnicity were screened for mutations in the eight coding exons of the CA4 gene by sequencing. Immunostaining and Real-Time PCR were used to measure the cellular localization and expression level of CA4 variations.

RESULTS:

Ten sequence alterations were identified, including a novel variant within exon 1 of CA4 (A12T) in a patient with RP. No notable difference was found between wild-type protein and A12T mutant protein in the distribution pattern. However, there was a decrease in level of mRNA expression of 3' UTR mutant to wild-type.

CONCLUSIONS:

The results suggest that the expression level of CA IV may be important to maintain retina function in RP.

• Authors: Yu Tian, Luosheng Tang, Juanlian Cui, Xiaohua Zhu
• Journal: Current eye research (Curr Eye Res) Vol. 35 Issue 5 Pg. 440-4 (May 2010) ISSN: 1460-2202 [Electronic] England
• PMID: 20450258 (Publication Type: Journal Article)

Chemical References

• RNA, Messenger
• Carbonic Anhydrase IV

Topics

• Adolescent
• Adult
• Asian People (genetics)
• Carbonic Anhydrase IV (genetics, metabolism)
• DNA Mutational Analysis
• Electroretinography
• Exons
• Female
• Fluorescent Antibody Technique, Indirect
• Humans
• Male
• Middle Aged
• Mutation
• RNA, Messenger (metabolism)
• Retinitis Pigmentosa (genetics, metabolism)
• Reverse Transcriptase Polymerase Chain Reaction
• Visual Acuity
• Visual Field Tests
• Young Adult