Hirose E, Inoue Y, Morimura H, Okamoto N, Fukuda M, Yamamoto S, Fujikado T, Tano Y
Department of Ophthalmology, Osaka University Medical School. NTT West Osaka Hospital, Japan.
Invest Ophthalmol Vis Sci. 2000 Nov;41(12):3933-5.
To detect mutations in the RDH5 gene encoding 11-cis retinol dehydrogenase in patients from Japan with fundus albipunctatus.
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.
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.
The data indicate that mutations in RDH5 are the primary cause of fundus albipunctatus.
检测来自日本的白点状眼底患者中编码11-顺式视黄醇脱氢酶的RDH5基因的突变情况。
采用聚合酶链反应和直接基因组测序技术，检测两名无亲缘关系的白点状眼底患者的RDH5编码外显子（外显子2-5）的突变情况。通过对先证者家庭进行分离分析，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。
鉴定出两个新的RDH5突变。其中一个是外显子5中的错义突变Val264Gly，另一个是外显子5中3个碱基对的框内插入。
数据表明RDH5突变是白点状眼底的主要病因。
