Identification and partial characterization of a candidate gene for X-linked retinopathies using a lateral approach

Journal Article · Mon Mar 01 00:00:00 EST 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1096· OSTI ID:6597180

Wong, P; MacDonald, I M; Sood, R; Smith, C; Pilon, R; Tenniswood, M ^[1]

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1. Univ. of Ottawa, Ontario (Canada)

Using library to library cross-screening the authors have identified a number of genomic clones that harbor X-linked sequences expressed in the human choroid/retina. They 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.8[sub c]), 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. 24 refs., 6 figs.

• OSTI ID: 6597180
• Journal Information: Genomics; (United States), Vol. 15:3; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
HUMAN X CHROMOSOME
GENETIC MAPPING
RETINA
DISEASES
DNA SEQUENCING
DNA-CLONING
MAPS
SCREENING
BODY
BODY AREAS
CHROMOSOMES
CLONING
DNA HYBRIDIZATION
EYES
FACE
HEAD
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HYBRIDIZATION
MAPPING
ORGANS
SENSE ORGANS
STRUCTURAL CHEMICAL ANALYSIS
X CHROMOSOME
550400* - Genetics