Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus.
Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus.
复制标题
日本白斑眼底患者 11-顺式视黄醇脱氢酶基因突变。
DOI：
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发表时间：
2000
影响因子：
4.4
通讯作者：
Y. Tano
中科院分区：
文献类型：
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作者：
E. Hirose;Y. Inoue;H. Morimura;N. Okamoto;M. Fukuda;S. Yamamoto;T. Fujikado;Y. Tano
目的
检测日本白斑眼底病患者编码11-顺式视黄醇脱氢酶的RDH 5基因突变。
方法
应用聚合酶链反应和基因组直接测序技术检测2例无血缘关系的白斑眼底病患者RDH 5基因第2-5外显子的突变情况。通过在索引病例的家族中进行分离分析，进一步评估改变编码区或内含子剪接位点的选定等位基因。
结果
发现了两个新的RDH 5突变。其中一个是外显子5的错义突变Val 264 Gly，另一个是外显子5的3bp的框内插入。
结论
这些数据表明，RDH 5的突变是眼底白斑的主要原因。
PURPOSE
To detect mutations in the RDH5 gene encoding 11-cis retinol dehydrogenase in patients from Japan with fundus albipunctatus.
METHODS
Polymerase chain reaction and direct genomic sequencing techniques were used to detect mutations of the RDH5 coding exons (exons 2-5) in two unrelated patients with fundus albipunctatus. Selected alleles that altered the coding region or intron splice sites were evaluated further through segregation analysis in the families of the index cases.
RESULTS
Two novel RDH5 mutations were identified. One of these was a missense mutation Val264Gly in exon 5, and the other was an in-frame insertion of 3 bp in exon 5.
CONCLUSIONS
The data indicate that mutations in RDH5 are the primary cause of fundus albipunctatus.
影响因子：
2.9
作者：
JORNVALL, H;PERSSON, B;GHOSH, D
通讯作者：
GHOSH, D
11-顺式视黄醇脱氢酶突变是先天性夜盲症（称为眼底白斑）的主要原因。
影响因子：
2.2
作者：
Gonzalez-Fernandez,F;Kurz,D;Bao,Y;Newman,S;Conway,BP;Young,JE;Han,DP;Khani,SC
通讯作者：
Khani,SC
影响因子：
56.9
作者：
SCHOENLEIN, RW;PETEANU, LA;SHANK, CV
通讯作者：
SHANK, CV