Journal article
Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity
Archives of ophthalmology (1960), Vol.119(4), pp.564-570
04/2001
DOI: 10.1001/archopht.119.4.564
PMID: 11296022
Abstract
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. 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. 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. 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. 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.
Details
- Title: Subtitle
- Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity
- Creators
- Larry A Donoso - The University of Texas Southwestern Medical CenterArcilee T FrostEdwin M StoneRichard G WeleberIan M MacDonaldGregory S HagemanGerhard W CibisRobert Ritter IIIAlbert O Edwards
- Resource Type
- Journal article
- Publication Details
- Archives of ophthalmology (1960), Vol.119(4), pp.564-570
- DOI
- 10.1001/archopht.119.4.564
- PMID
- 11296022
- NLM abbreviation
- Arch Ophthalmol
- ISSN
- 0003-9950
- eISSN
- 1538-3601
- Publisher
- American Medical Association; United States
- Grant note
- EY11515 / NEI NIH HHS EY10539 / NEI NIH HHS EY12699 / NEI NIH HHS
- Language
- English
- Date published
- 04/2001
- Academic Unit
- Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
- Record Identifier
- 9983979920302771
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