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Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity.
Donoso, L A; Frost, A T; Stone, E M; Weleber, R G; MacDonald, I M; Hageman, G S; Cibis, G W; Ritter, R; Edwards, A O.
Affiliation
  • Donoso LA; Department of Ophthalmology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390-9057. Albert.Edwards@UTSouthwestern.edu
Arch Ophthalmol ; 119(4): 564-70, 2001 Apr.
Article in En | MEDLINE | ID: mdl-11296022
ABSTRACT

OBJECTIVES:

To characterize a disease-associated haplotype in 7 families with autosomal dominant Stargardt-like macular dystrophy and to determine whether these families share a common ancestor.

METHODS:

Twenty-five polymorphic DNA markers spanning known dominant Stargardt-like gene loci were used to determine the haplotype associated with disease. In addition, an extensive genealogical investigation searching for a common ancestor shared by all of the 7 families was performed.

RESULTS:

We clinically evaluated 171 patients and genotyped 145 samples. The same DNA haplotype on chromosome 6q16 was shared by all evaluated affected members within the 7 families. In addition, we were able to genealogically join all of the families into one larger family consisting of 31 branches and 2314 individuals. Twenty-seven branches have known living descendants, with 7 branches having affected family members. In addition, we refined the critical region for the gene to approximately 1000 kilobases (kb) and eliminated part or all of 9 candidate disease-causing genes.

CONCLUSIONS:

Our study indicates that most reported cases of autosomal dominant Stargardt-like macular dystrophy in North America are part of a single larger family associated with a gene locus on chromosome 6q16. Furthermore, the DNA haplotype associated with disease is useful in excluding individuals with phenotypically similar retinal conditions. CLINICAL RELEVANCE The disease-associated haplotype allows for more accurate genetic counseling to be given to individuals with a Stargardt-like phenotype inherited in an autosomal dominant pattern.
Subject(s)
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Collection: 01-internacional Database: MEDLINE Main subject: Genetic Heterogeneity / Founder Effect / Genes, Dominant / Macular Degeneration Limits: Female / Humans / Male Language: En Journal: Arch Ophthalmol Year: 2001 Document type: Article
Search on Google
Collection: 01-internacional Database: MEDLINE Main subject: Genetic Heterogeneity / Founder Effect / Genes, Dominant / Macular Degeneration Limits: Female / Humans / Male Language: En Journal: Arch Ophthalmol Year: 2001 Document type: Article