IDENTIFICATION AND PARTIAL CHARACTERIZATION OF A CANDIDATE GENE FOR X-LINKED RETINOPATHIES USING A LATERAL APPROACH

被引：6

作者：

WONG, P ^{[1
]}

MACDONALD, IM ^{[1
]}

SOOD, R ^{[1
]}

SMITH, C ^{[1
]}

PILON, R ^{[1
]}

TENNISWOOD, M ^{[1
]}

机构：

[1] UNIV OTTAWA,DEPT OPHTHALMOL,OTTAWA K1H 8M5,ONTARIO,CANADA

来源：

GENOMICS | 1993年 / 15卷 / 03期

关键词：

D O I：

10.1006/geno.1993.1096

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Using library to library cross-screening we have identified a number of genomic clones that harbor X-linked sequences expressed in the human choroid/retina. We describe the characterization of one of these, designated XEH.8 (DXS542), which is localized to Xp11.3-q12. Isolation, partial sequencing, and Northern analysis of the cognate cDNA (XEH.8c), has shown that the cDNA has some homology to the dystrophin gene and hybridizes to a 10-kb mRNA present in the choroid and retina but not in fibroblasts. This expressed sequence maps to the same region of the X chromosome as several known X-linked ophthalmic diseases, including Norrie disease, retinitis pigmentosa 2, congenital night blindness and Aland Island eye disease. © 1993 Academic Press. All rights reserved.

引用

页码：467 / 471

页数：5

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