POINT MUTATIONS OF RHODOPSIN GENE FOUND IN JAPANESE FAMILIES WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA (ADRP)
POINT MUTATIONS OF RHODOPSIN GENE FOUND IN JAPANESE FAMILIES WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA (ADRP)
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DOI：
10.1007/bf01899733
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发表时间：
1992-06-01
期刊：
影响因子：
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通讯作者：
KANAI, A
中科院分区：
文献类型：
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作者：
FUJIKI, K;HOTTA, Y;KANAI, A
密码子17、23、58的突变。对33例常染色体显性视网膜色素变性（ADRP）患者的24个日本家系进行了视紫红质基因（Rhodopsin）和347个视紫红质基因（Rhodopsin）的检测。其中1例患者存在17位密码子突变（Thr-17-Met，ACG->ATG），4例患者存在347位密码子突变（Pro-347-Leu，CCG->CTG）。两种突变的临床表现截然不同，前者表现为2型ADRP，后者表现为1型ADRP。在本研究所分析的所有家系中均未发现第23和58位密码子突变。 与视紫红质基因第17和347位密码子突变相关的临床研究结果显示存在等位基因异质性。
The mutations of codon 17, 23, 58. and 347 of rhodopsin gene were investigated in 24 unrelated Japanese families including 33 patients with autosomal dominant retinitis pigmentosa (ADRP). A patient with codon 17 mutation (Thr-17-Met, ACG-->ATG) and a family including 4 patients with codon 347 mutation (Pro-347-Leu, CCG-->CTG) were detected among them. Their clinical findings were extremely different between the two mutations, The former showed type 2 and the latter showed type 1 ADRP. No mutation of codon 23 and 58 was detected in any families so far analyzed in the present study. Clinical findings associated with the mutation in codon 17 and 347 of the rhodopsin gene show an existence of allelic heterogeneity.