LOCALIZATION OF A NOVEL X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS LOCUS - CLOSE LINKAGE TO THE RP3 TYPE RETINITIS-PIGMENTOSA GENE REGION

被引：17

作者：

BERGEN, AAB ^{[1
]}

TENBRINK, JB ^{[1
]}

RIEMSLAG, F ^{[1
]}

SCHUURMAN, EJM ^{[1
]}

TIJMES, N ^{[1
]}

机构：

[1] ACAD HOSP,DEPT OPHTHALMOL,AMSTERDAM,NETHERLANDS

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 05期

关键词：

D O I：

10.1093/hmg/4.5.931

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

X-linked congenital stationary night blindness (CSNBX) is a non-progressive retinal disorder characterized by decreased visual acuity and loss of night vision. CSNBX is clinically heterogeneous with respect to the involvement of retinal rods and/or cones in the disease. In this study, we localize a new locus for CSNBX to Xp21.1, thus providing evidence that CSNBX is also genetically heterogeneous. A clear correlation between different genotypes and phenotypes cannot be found yet, The new CSNBX gene described here is closely linked to the X-linked retinitis pigmentosa type 3 gene region, which supports the hypothesis that there may be a functional relationship between congenital stationary night blindness and retinitis pigmentosa.

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收藏

页码：931 / 935

页数：5

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