一个患有常染色体显性遗传性视网膜色素变性的日本家族中视紫红质基因密码子106突变（甘氨酸突变为精氨酸）
Rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal dominant retinitis pigmentosa.
作者信息
Matsumoto M, Hayasaka S, Yamada T, Hayasaka Y
机构信息
Department of Ophthalmology, Toyama Medical and Pharmaceutical University, Toyama, Japan.
出版信息
Jpn J Ophthalmol. 2000 Nov-Dec;44(6):610-4. doi: 10.1016/s0021-5155(00)00286-0.
PURPOSE
To examine rhodopsin gene mutations in Japanese patients with retinitis pigmentosa.
METHODS
We performed a mutational analysis of the rhodopsin gene in 42 patients from 40 families with retinitis pigmentosa. Genomic DNA was amplified by polymerase chain reaction (PCR) and the PCR products were sequenced. Restriction enzyme analysis was performed in family members of 1 patient with a rhodopsin gene mutation (Gly106Arg) and in 100 normal individuals.
RESULTS
Among the patients with retinitis pigmentosa, 3 patients in one family had a heterozygous Gly106Arg mutation of the rhodopsin gene. They had night blindness and sectorial retinal dystrophy (predominantly at the inferior fundus) in both eyes. None of the 100 individuals with normal fundi had the Gly106Arg mutation of the rhodopsin gene.
CONCLUSION
The Gly106Arg mutation of the rhodopsin gene has been found in Japanese patients with sectorial retinitis pigmentosa.
目的
检测日本视网膜色素变性患者的视紫红质基因突变情况。
方法
我们对来自40个患有视网膜色素变性家庭的42例患者进行了视紫红质基因突变分析。通过聚合酶链反应（PCR）扩增基因组DNA，并对PCR产物进行测序。对1例视紫红质基因突变（Gly106Arg）患者的家庭成员及100名正常个体进行了限制性内切酶分析。
结果
在视网膜色素变性患者中，一个家庭的3例患者存在视紫红质基因杂合Gly106Arg突变。他们双眼均有夜盲和扇形视网膜营养不良（主要位于眼底下方）。100名眼底正常的个体均无视紫红质基因Gly106Arg突变。
结论
在日本扇形视网膜色素变性患者中发现了视紫红质基因Gly106Arg突变。
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