Sato Masaki, Oshika Tetsuro, Kaji Yuuichi, Nose Harumi
Department of Ophthalmology, University Hospital of Tsukuba, Amakubo, Tsukuba, Japan.
Ophthalmic Res. 2004 Jan-Feb;36(1):43-50. doi: 10.1159/000076109.
We examined the RDH5 gene for mutations in two unrelated Japanese families with fundus albipunctatus. Each proband with fundus albipunctatus in two families (family A's case was atypical with sectorial retinitis pigmentosa, while family B's case was typical), and 2 obligate carriers underwent molecular analysis of their RDH5 gene. DNA was amplified for all coding exons of the RDH5 gene with established primer pairs, and sequenced directly. Each family had a different mutation in the RDH5 gene. Family A had a homozygous mutation (Gly107Arg) while family B had a compound heterozygous mutation (Arg280His and Leu310GluVal). The obligate carriers were heterozygous with the wild-type and mutant-type alleles. The homozygous Gly107Arg mutation in the RDH5 gene described in this paper has not previously been described, though compound heterozygous mutations (Gly107Arg and Leu310GluVal) in the RDH5 gene have previously been reported.
我们在两个不相关的患有白点状眼底的日本家族中检测了RDH5基因的突变情况。两个家族中患有白点状眼底的每位先证者（A家族的病例伴有扇形视网膜色素变性，属非典型病例；而B家族的病例为典型病例）以及2名必然携带者均接受了RDH5基因的分子分析。使用已确定的引物对扩增RDH5基因的所有编码外显子的DNA，并直接进行测序。每个家族的RDH5基因都有不同的突变。A家族有一个纯合突变（Gly107Arg），而B家族有一个复合杂合突变（Arg280His和Leu310GluVal）。必然携带者为野生型和突变型等位基因的杂合子。本文所述的RDH5基因纯合Gly107Arg突变此前未曾有过报道，不过此前曾报道过RDH5基因的复合杂合突变（Gly107Arg和Leu310GluVal）。
