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本文引用的文献

1
Characterization of rhodopsin mis-sorting and constitutive activation in a transgenic rat model of retinitis pigmentosa.视网膜色素变性转基因大鼠模型中视紫红质错误分选和组成性激活的特征分析
Invest Ophthalmol Vis Sci. 2000 May;41(6):1546-53.
2
A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness.视紫红质基因内一个新的突变（苏氨酸-94-异亮氨酸）导致常染色体显性遗传性先天性静止性夜盲。
Hum Mutat. 1999;13(1):75-81. doi: 10.1002/(SICI)1098-1004(1999)13:1<75::AID-HUMU9>3.0.CO;2-4.
3
The cytoplasmic tail of rhodopsin acts as a novel apical sorting signal in polarized MDCK cells.视紫红质的细胞质尾巴在极化的MDCK细胞中作为一种新型的顶端分选信号。
J Cell Biol. 1998 Sep 7;142(5):1245-56. doi: 10.1083/jcb.142.5.1245.
4
Regulation of sorting and post-Golgi trafficking of rhodopsin by its C-terminal sequence QVS(A)PA.视紫红质C末端序列QVS(A)PA对其分选及高尔基体后转运的调控
Proc Natl Acad Sci U S A. 1998 Sep 1;95(18):10620-5. doi: 10.1073/pnas.95.18.10620.
5
Retinitis pigmentosa: unfolding its mystery.视网膜色素变性：揭开其奥秘
Proc Natl Acad Sci U S A. 1996 May 14;93(10):4526-8. doi: 10.1073/pnas.93.10.4526.
6
[A study on the rhodopsin gene in Japanese retinitis pigmentosa--screening of mutation by restriction endonucreases and frequencies of DNA polymorphisms].[日本视网膜色素变性患者视紫红质基因的研究——通过限制性内切酶筛选突变及DNA多态性频率]
Nippon Ganka Gakkai Zasshi. 1995 Oct;99(10):1151-7.
7
Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa.常染色体显性遗传性视网膜色素变性家族中视紫红质基因的分子分析与基因定位
Genomics. 1993 Jul;17(1):230-3. doi: 10.1006/geno.1993.1309.
8
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.视紫红质基因杂合错义突变是先天性静止性夜盲的病因。
Nat Genet. 1993 Jul;4(3):280-3. doi: 10.1038/ng0793-280.
9
Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.鉴定导致色素性视网膜炎的新型视紫红质突变：对视紫红质结构和功能的影响
Am J Hum Genet. 1993 Jul;53(1):80-9.
10
Autosomal dominant retinitis pigmentosa. A mutation in codon 181 (Glu-->Lys) of the rhodopsin gene in a Japanese family.常染色体显性遗传性视网膜色素变性。一个日本家族中视紫红质基因第181密码子（谷氨酸→赖氨酸）发生突变。
Ophthalmic Genet. 1994 Jun;15(2):61-7. doi: 10.3109/13816819409098865.

中国视网膜色素变性患者的视紫红质突变

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.

DOI:10.1136/bjo.85.9.1046
PMID:11520753
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1724134/
Abstract

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%).

摘要

目的

确定中国视网膜色素变性（RP）患者中视紫红质突变的模式。

方法

对来自香港的101例RP患者和190例对照者的视紫红质基因进行检测。

结果

鉴定出三个编码变化：Pro347Leu、Ala299Ser和5211delC。每个蛋白质序列改变均在一名患者中发现。Ala299Ser也存在于两名对照者中。

结论

C端无义突变可能导致视紫红质蛋白分选错误。在对照者中发现Ala299Ser表明这是报道的第三个不会导致RP的错义改变。RP中视紫红质突变的预期频率<7%（2/101 = 2.0%，95%置信区间：0.2% - 7.0%）。