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Title: A YAC contig encompassing the chromosome 7p locus for autosomal dominant retinitis pigmentosa

Abstract

Retinitis pigmentosa is an inherited retinal degeneration characterized by night blindness and loss of peripheral vision, often leading to complete blindness. The autosomal dominant form (adRP) maps to at least six different loci, including the rhodopsin and peripherin/Rds genes and four loci identified only by linkage analysis on chromosomes 7p, 7q, 8cen and 19q. The 7p locus was reported by this laboratory in a large English family, with a lod score of 16.5. Several new genetic markers have been tested in the family and this locus has now been refined to an interval of approximately 1 cM between markers D7S795 and D7S484 in the 7p13-15 region. In order to clone the gene for adRP, we have used microsatellites and STSs from the region to identify over 80 YACs, from four different libraries, which map to this interval. End clones from key YACs were isolated for the generation of additional STSs. Eleven microsatellite markers between D7S435 (distal) and D7S484 (proximal) have been ordered by a combination of both physical and genetic mapping. In this way we have now obtained a YAC contig spanning approximately 3 megabases of chromosome 7p within which the adRP gene must lie. One gene (aquaporin) and onemore » chromosome 7 brain EST have been placed on the contig but both map distal to the region of interest. Sixteen other ESTs and three further known 7p genes mapping in the region have been excluded. We are now attempting to build a cosmid contig in the defined interval and identify further expressed sequences from both YACs and cosmids to test as candidates for the adRP gene.« less

Authors:
; ;  [1]
  1. Institute of Ophthalmology, London (United Kingdom); and others
Publication Date:
OSTI Identifier:
134420
Report Number(s):
CONF-941009-
Journal ID: AJHGAG; ISSN 0002-9297; CNN: Grant 035535/2/92/Z; TRN: 95:005313-1154
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics
Additional Journal Information:
Journal Volume: 55; Journal Issue: Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENES; GENETIC MAPPING; DNA-CLONING; HUMAN CHROMOSOME 7; SENSE ORGANS DISEASES; PATIENTS; HEREDITARY DISEASES; STATISTICS; BIOLOGICAL MARKERS; YEASTS; CONTIGS; DOMINANT MUTATIONS; HUMAN CHROMOSOME 8; HUMAN CHROMOSOME 19; GENETICS; NUCLEOTIDES

Citation Formats

Inglehearn, C F, Keen, T J, and Ratel, R. A YAC contig encompassing the chromosome 7p locus for autosomal dominant retinitis pigmentosa. United States: N. p., 1994. Web.
Inglehearn, C F, Keen, T J, & Ratel, R. A YAC contig encompassing the chromosome 7p locus for autosomal dominant retinitis pigmentosa. United States.
Inglehearn, C F, Keen, T J, and Ratel, R. 1994. "A YAC contig encompassing the chromosome 7p locus for autosomal dominant retinitis pigmentosa". United States.
@article{osti_134420,
title = {A YAC contig encompassing the chromosome 7p locus for autosomal dominant retinitis pigmentosa},
author = {Inglehearn, C F and Keen, T J and Ratel, R},
abstractNote = {Retinitis pigmentosa is an inherited retinal degeneration characterized by night blindness and loss of peripheral vision, often leading to complete blindness. The autosomal dominant form (adRP) maps to at least six different loci, including the rhodopsin and peripherin/Rds genes and four loci identified only by linkage analysis on chromosomes 7p, 7q, 8cen and 19q. The 7p locus was reported by this laboratory in a large English family, with a lod score of 16.5. Several new genetic markers have been tested in the family and this locus has now been refined to an interval of approximately 1 cM between markers D7S795 and D7S484 in the 7p13-15 region. In order to clone the gene for adRP, we have used microsatellites and STSs from the region to identify over 80 YACs, from four different libraries, which map to this interval. End clones from key YACs were isolated for the generation of additional STSs. Eleven microsatellite markers between D7S435 (distal) and D7S484 (proximal) have been ordered by a combination of both physical and genetic mapping. In this way we have now obtained a YAC contig spanning approximately 3 megabases of chromosome 7p within which the adRP gene must lie. One gene (aquaporin) and one chromosome 7 brain EST have been placed on the contig but both map distal to the region of interest. Sixteen other ESTs and three further known 7p genes mapping in the region have been excluded. We are now attempting to build a cosmid contig in the defined interval and identify further expressed sequences from both YACs and cosmids to test as candidates for the adRP gene.},
doi = {},
url = {https://www.osti.gov/biblio/134420}, journal = {American Journal of Human Genetics},
number = Suppl.3,
volume = 55,
place = {United States},
year = {Thu Sep 01 00:00:00 EDT 1994},
month = {Thu Sep 01 00:00:00 EDT 1994}
}