红绿色素基因第5外显子变异所致的色觉缺陷
Color vision defects with variation in the exon 5 of red and green pigment genes.
作者信息
Shen H, Zhang Q, Xiao X, Li S, Guo L, Jiang F
机构信息
Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou 510060, China.
出版信息
Yan Ke Xue Bao. 1998 Sep;14(3):130-3.
PURPOSE
To investigate correlation of variation in the exon 5 of red and green pigment genes with color vision defects.
METHODS
Exon 5 of the red and green pigment genes in 11 protans, 19 deutans and 38 normal controls were analyzed by heteroduplux-SSCP analysis.
RESULTS
In all 11 protans and 8 of the 19 deutans, defects of the red or green pigment gene could be identified. The C polymorphism (A/C at codon 283) in green pigment gene was present in 8 of 44 trichromats and 5 of 24 dichromats. Specific electrophoretic bands were found in 2 normal controls and a deutan.
CONCLUSIONS
Variation in the exon 5 of the red and green pigment genes is the most common cause for color vision defects. Heteroduplex-SSCP analysis is a suitable way in screening specific variation in visual pigment genes.
目的
研究红、绿视锥色素基因第5外显子变异与色觉缺陷的相关性。
方法
采用异源双链单链构象多态性分析（heteroduplux-SSCP analysis）对11例红色弱患者、19例绿色弱患者及38例正常对照者的红、绿视锥色素基因第5外显子进行分析。
结果
11例红色弱患者及19例绿色弱患者中的8例可检测到红或绿视锥色素基因缺陷。绿色视锥色素基因的C多态性（密码子283处A/C）在44例三色觉者中的8例及24例二色觉者中的5例中存在。在2例正常对照者及1例绿色弱患者中发现了特异性电泳条带。
结论
红、绿视锥色素基因第5外显子变异是色觉缺陷最常见的原因。异源双链单链构象多态性分析是筛查视锥色素基因特异性变异的合适方法。
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