New locus for autosomal dominant stargardt-like disease maps to chromosome 4

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Publication Type Journal Article
School or College School of Medicine
Department Ophthalmology
Creator Zhang, Kang
Other Author Kniazeva, M; Chiang, M F; Morgan, B; Anduze, A L; Zack, D J; Han, M
Title New locus for autosomal dominant stargardt-like disease maps to chromosome 4
Date 1999
Description Stargardt disease (STGD) is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal-pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD is most commonly inherited as an autosomal recessive trait, but many families have been described in which features of the disease are transmitted in an autosomal dominant manner. A recessive locus has been identified on chromosome 1p (STGD1), and dominant loci have been mapped to both chromosome 13q (STGD2) and chromosome 6q (STGD3). In this study, we describe a kindred with an autosomal dominant Stargardt-like phenotype. A genomewide search demonstrated linkage to a locus on chromosome 4p, with a maximum LOD score of 5.12 at a recombination fraction of.00, for marker D4S403. Analysis of extended haplotypes localized the disease gene to an approximately 12-cM interval between loci D4S1582 and D4S2397. Therefore, this kindred establishes a new dominant Stargardt-like locus, STGD4.
Type Text
Publisher University of Chicago Press
Volume 64
Issue 5
First Page 1394
Last Page 1399
Subject Haplotypes; Genetic Markers
Subject MESH Chromosome Mapping; Chromosomes, Human, Pair 4; Macular Degeneration; Lod Score
Language eng
Bibliographic Citation Kniazeva M, Chiang MF, Morgan B, Anduze AL, Zack DJ, Han M, Zhang K. (1999). A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. Am J Hum Genet, 64(5), 1394-9
Rights Management (c) University of Chicago Press
Format Medium application/pdf
Identifier ir-main,1795
ARK ark:/87278/s6xs6cjt
Setname ir_uspace
Date Created 2012-06-13
Date Modified 2021-05-06
ID 702887
Reference URL https://collections.lib.utah.edu/ark:/87278/s6xs6cjt
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