Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.
OBJECTIVE
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.
Tian
Yu
Y
The 2nd Xiangya Hospital, Department of Ophthalmology, Central South University, Changsha, China.
Tang
Luosheng
L
Cui
Juanlian
J
Zhu
Xiaohua
X
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D030741:Carbonic Anhydrase IV / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005091:Exons; D005260:Female; D019084:Fluorescent Antibody Technique, Indirect; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012333:RNA, Messenger / Q000378:metabolism; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014792:Visual Acuity; D058609:Visual Field Tests; D055815:Young Adult
D012333:RNA, Messenger; D030741:Carbonic Anhydrase IV