POINT MUTATIONS OF RHODOPSIN GENE FOUND IN JAPANESE FAMILIES WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA (ADRP)

被引：31

作者：

FUJIKI, K

HOTTA, Y

HAYAKAWA, M

SAKUMA, H

SHIONO, T

NORO, M

SAKUMA, T

TAMAI, M

HIKIJI, K

KAWAGUCHI, R

HOSHI, A

NAKAJIMA, A

KANAI, A

机构：

[1] TOHOKU UNIV,SCH MED,DEPT OPHTHALMOL,AOBA KU,SENDAI,MIYAGI 980,JAPAN

[2] SRL,GENET RES LAB,HACHIOJI,TOKYO 192,JAPAN

来源：

JAPANESE JOURNAL OF HUMAN GENETICS | 1992年 / 37卷 / 02期

关键词：

AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA (ADRP); RHODOPSIN GENE; POINT MUTATION; ALLELIC HETEROGENEITY;

D O I：

10.1007/BF01899733

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

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页码：125 / 132

页数：8

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