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PMID: 8275096 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1.

Nature genetics ·Vol. 5 ·No. 3 ·1993-11-00 ·Pages 308-11

Kaplan J, Gerber S, Larget-Piet D, Rozet JM, Dollfus H, Dufier JL, Odent S, Postel-Vinay A, Janin N, Briard ML

Abstract

Stargardt's disease (fundus flavimaculatus) is one of the most frequent causes of macular degeneration in childhood and accounts for 7% of all retinal dystrophies. It is an autosomal recessive condition characterized by a bilateral loss of central vision occurring at age 7-12 years. Genetic linkage analysis of eight families has assigned the disease locus to chromosome 1p21-p13. Multipoint linkage analysis and haplotype analysis has allowed us to establish the best estimate for location of the gene over the locus D1S435 (maximum lod score of 12.66). Our results are consistent with the genetic homogeneity of this condition.

MeSH Terms
Child Chromosome Mapping Chromosomes, Human, Pair 1 Female Genes, Recessive Genetic Linkage Haplotypes Humans Male Recombination, Genetic Retinal Diseases/genetics
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Kaplan J
Service de Génétique, INSERM U-12, Hôpital des Enfants-Malades, Paris, France.
Gerber S
Larget-Piet D
Rozet J M
Dollfus H
Dufier J L
Odent S
Postel-Vinay A
Janin N
Briard M L
Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1061-4036
Published
1993-11-00
Pages
308-11
Language
English
Region
United States
NLM ID
9216904
Subset
IM
Corrections
ErratumIn
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