Exclusion of candidate genetic loci for Duane retraction syndrome.
Am J Ophthalmol
; 127(3): 358-60, 1999 Mar.
Article
en En
| MEDLINE
| ID: mdl-10088756
PURPOSE: To report preliminary linkage analysis of a large Hispanic family showing autosomal dominant inheritance for Duane retraction syndrome. METHODS: Microsatellite analysis was used to examine genomic DNA isolated from members of a large family with autosomal dominant Duane retraction syndrome for linkage to candidate loci for Duane retraction syndrome. Chromosomes 4, 8, and 22 were chosen for study because previous reports had documented karyotypic abnormalities in unrelated patients with Duane retraction syndrome. RESULTS: No lod scores over 0.5 were found for markers on chromosomes 4, 8, or 22. This analysis excludes these candidate sites. CONCLUSIONS: Studies do not support linkage between Duane retraction syndrome in this family and chromosomes 4, 8, and 22. Duane retraction syndrome may result from mutations in a heterogeneous group of genes.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
ADN
/
Síndrome de Retracción de Duane
/
Repeticiones de Microsatélite
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Ophthalmol
Año:
1999
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
Estados Unidos