Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
Hum Genet
; 106(2): 244-8, 2000 Feb.
Article
em En
| MEDLINE
| ID: mdl-10746567
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.
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Base de dados:
MEDLINE
Assunto principal:
Desequilíbrio de Ligação
/
Transportadores de Cassetes de Ligação de ATP
/
Alelos
/
Genes Dominantes
/
Degeneração Macular
/
Mutação
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
Estados Unidos