Rhodopsin mutations in Chinese patients with retinitis pigmentosa.
作者信息
Chan W M, Yeung K Y, Pang C P, Baum L, Lau T C, Kwok A K, Lam D S
机构信息
Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
出版信息
Br J Ophthalmol. 2001 Sep;85(9):1046-8. doi: 10.1136/bjo.85.9.1046.
AIM
To determine the pattern of rhodopsin mutations in Chinese retinitis pigmentosa (RP) patients.
METHODS
The rhodopsin gene was examined in 101 RP patients and 190 controls from Hong Kong.
RESULTS
Three coding changes were identified: Pro347Leu, Ala299Ser, and 5211delC. Each protein sequence alteration was found in one patient. Ala299Ser also existed in two controls.
CONCLUSION
The C-terminal nonsense mutation may cause mis-sorting of rhodopsin protein. The finding of controls with Ala299Ser suggests this is only the third missense alteration reported that does not cause RP. The expected frequency of rhodopsin mutations in RP is <7% (2/101=2.0%, 95% confidence interval: 0.2%-7.0%).
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