A POINT MUTATION IN THE RDS-PERIPHERIN GENE IN A SPANISH FAMILY WITH CENTRAL AREOLAR CHOROIDAL DYSTROPHY

被引：50

作者：

REIG, C ^{[1
]}

SERRA, A ^{[1
]}

GEAN, E ^{[1
]}

VIDAL, M ^{[1
]}

ARUMI, J ^{[1
]}

DELACALZADA, MD ^{[1
]}

ANTICH, J ^{[1
]}

CARBALLO, M ^{[1
]}

机构：

[1] HOSP SANT JOAN DEU,SECC GENET,E-08034 BARCELONA,SPAIN

来源：

OPHTHALMIC GENETICS | 1995年 / 16卷 / 02期

关键词：

GENE MUTATION; RDS-PERIPHERIN; CHOROIDAL DYSTROPHY;

D O I：

10.3109/13816819509056911

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The RDS-peripherin gene encodes a photoreceptor-specific protein that is localized in the outer segment disc membranes of both rods and cones. We screened a Spanish family with central areolar choroidal dystrophy for mutations in candidate genes. A base substitution was identified in the RDS-peripherin gene of one patient and DNA sequencing revealed a C-to-T transition in codon 172, arginine being substituted by tryptophan. The mutation was also detected in two asymptomatic family members who showed irregular pigmentation in the retinal pigment epithelium (RPE). The phenotype is similar to other macular dystrophies caused by mutation in the RDS-peripherin gene.

引用

页码：39 / 44

页数：6

共 18 条

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