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- Title
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
- Authors
Shroyer, Noah F.; Lewis, Richard Alan; Lupski, James R.
- Abstract
Stargardt disease is a recessively transmitted disease caused by mutations in the ABCR gene. Linkage disequilibrium has recently been reported between a polymorphism, 2828 A, and a common Western European founder mutation, 2588 C. Here, we confirm this linkage disequilibrium in a North American population. We also describe two complex alleles involving the 2828 A and 2588 C alterations and suggest a possible order of clinical severity of mutations identified in trans to the complex alleles. Finally, we report pseudodominance of Stargardt disease in a family with the 2588 C mutation, further supporting a high frequency of carriers for ABCR mutations in our population.
- Subjects
COMMUNICABLE diseases; FAMILIAL diseases; GENETIC disorders; GENETIC mutation; ETIOLOGY of diseases; GENETICS
- Publication
Human Genetics, 2000, Vol 106, Issue 2, p244
- ISSN
0340-6717
- Publication type
Article
- DOI
10.1007/s004390051034