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Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Frost, Arcilee T. Donald, Ian M. Mac Ritter, Robert |
| Copyright Year | 2001 |
| 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. |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://archopht.jamanetwork.com/pdfaccess.ashx?url=/data/journals/ophth/6683/eog90023.pdf |
| Alternate Webpage(s) | https://archopht.jamanetwork.com/journals/OPHTH/articlepdf/266087/eog90023.pdf |
| PubMed reference number | 11296022v1 |
| Volume Number | 119 |
| Issue Number | 4 |
| Journal | Archives of ophthalmology |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) Autosomal dominant inheritance Genes, vif Genetic Heterogeneity Haplotypes Hereditary Diseases Large Macular dystrophy Muscular Dystrophy, Duchenne One Thousand Patients Retina |
| Content Type | Text |
| Resource Type | Article |
