skip to main content
OSTI.GOV title logo U.S. Department of Energy
Office of Scientific and Technical Information

Title: Genetic and physical location of the gene for Stargardt`s disease and further evidence for genetic homogeneity

Abstract

Stargardt`s disease is inherited as an autosomal recessive condition characterized by a juvenile macular dystrophy. Genetic linkage analysis recently assigned the disease locus to chromosome 1p21-p13 with the best estimate for location of the gene near the locus D1S435. We performed linkage analysis in 34 North American families and 2 inbred families from the Kingdom of Saudi Arabia with 12 highly polymorphic markers on chromosome 1p flanking D1S435 between D1S207 and D1S223 and report significant linkage for all 12 markers with no evidence for genetic heterogeneity. Two-point linkage analysis demonstrated the Stargardt`s disease locus and D1S435 are linked with a maximum lod score of 17.17 at a recombination fraction of 1%. The markers UT851, D1S188, D1S424, UT2069, and D1S236 also demonstrated recombination fractions of 1% or less with two-point lod scores of 15.86, 21.93, 16.41, 20.36, and 17.37, respectively. To characterize this region further, fifty-five YACs with an average length of 1,118 kb were assembled from the CEPH megabase YAC library to establish a physical map for subsequent efforts to clone this gene. A YAC contig containing the genetic markers UT851, D1S188, D1S424, UT2069, D1S435, D1S236, D1S497, D1S420, UT5782, D1S206, and D1S223, has been constructed covering at least 11 cM.more » The genetic mapping data places the Stargardt`s disease locus between the markers UT851 and D1S435, suggesting that the Stargardt`s disease gene is present on this YAC contig.« less

Authors:
; ;  [1]
  1. Baylor College of Medicine, Houston, TX (United States); and others
Publication Date:
OSTI Identifier:
134379
Report Number(s):
CONF-941009-
Journal ID: AJHGAG; ISSN 0002-9297; TRN: 95:005313-1113
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; PATIENTS; HEREDITARY DISEASES; GENES; GENE MUTATIONS; GENETIC MAPPING; DNA-CLONING; HUMAN CHROMOSOME 1; RECESSIVE MUTATIONS; STATISTICS; BIOLOGICAL MARKERS; YEASTS; CONTIGS

Citation Formats

Anderson, K L, Lewis, R A, and Lupski, J R. Genetic and physical location of the gene for Stargardt`s disease and further evidence for genetic homogeneity. United States: N. p., 1994. Web.
Anderson, K L, Lewis, R A, & Lupski, J R. Genetic and physical location of the gene for Stargardt`s disease and further evidence for genetic homogeneity. United States.
Anderson, K L, Lewis, R A, and Lupski, J R. 1994. "Genetic and physical location of the gene for Stargardt`s disease and further evidence for genetic homogeneity". United States.
@article{osti_134379,
title = {Genetic and physical location of the gene for Stargardt`s disease and further evidence for genetic homogeneity},
author = {Anderson, K L and Lewis, R A and Lupski, J R},
abstractNote = {Stargardt`s disease is inherited as an autosomal recessive condition characterized by a juvenile macular dystrophy. Genetic linkage analysis recently assigned the disease locus to chromosome 1p21-p13 with the best estimate for location of the gene near the locus D1S435. We performed linkage analysis in 34 North American families and 2 inbred families from the Kingdom of Saudi Arabia with 12 highly polymorphic markers on chromosome 1p flanking D1S435 between D1S207 and D1S223 and report significant linkage for all 12 markers with no evidence for genetic heterogeneity. Two-point linkage analysis demonstrated the Stargardt`s disease locus and D1S435 are linked with a maximum lod score of 17.17 at a recombination fraction of 1%. The markers UT851, D1S188, D1S424, UT2069, and D1S236 also demonstrated recombination fractions of 1% or less with two-point lod scores of 15.86, 21.93, 16.41, 20.36, and 17.37, respectively. To characterize this region further, fifty-five YACs with an average length of 1,118 kb were assembled from the CEPH megabase YAC library to establish a physical map for subsequent efforts to clone this gene. A YAC contig containing the genetic markers UT851, D1S188, D1S424, UT2069, D1S435, D1S236, D1S497, D1S420, UT5782, D1S206, and D1S223, has been constructed covering at least 11 cM. The genetic mapping data places the Stargardt`s disease locus between the markers UT851 and D1S435, suggesting that the Stargardt`s disease gene is present on this YAC contig.},
doi = {},
url = {https://www.osti.gov/biblio/134379}, 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}
}