A novel locus for Leber congenital amaurosis on chromosome 14q24

David W. Stockton, Richard Alan Lewis, Emad B. Abboud, Ali Al-Rajhi, Monzer Jabak, Kent L. Anderson, James R. Lupski

Producción científica: Articlerevisión exhaustiva

67 Citas (Scopus)

Resumen

Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous autosomal recessive retinal dystrophy and the most common genetic cause of congenital visual impairment. We used a DNA pooling strategy comparing the genotypes of affected to unaffected control pools in a genome-wide search for identity-by-descent on a consanguineous Saudi Arabian LCA family. A shift to homozygosity was observed in the affected DNA pool compared with the control pool at linked markers D14S606 and D14S610. Genotyping of individual DNA samples from the entire pedigree for marker D14S74, closely linked to these loci, and several flanking markers confirmed linkage with a Z(MAX) = 13.29 at θ = 0.0. These data assign a third locus (LCA3) for LCA to chromosome 14q24. This locus and the previously identified loci are excluded for other Saudi Arabian pedigrees, both confirming that this clinical disorder is genetically heterogeneous and that additional LCA genes remain to be identified.

Idioma originalEnglish (US)
Páginas (desde-hasta)328-333
Número de páginas6
PublicaciónHuman Genetics
Volumen103
N.º3
DOI
EstadoPublished - 1998
Publicado de forma externa

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Huella

Profundice en los temas de investigación de 'A novel locus for Leber congenital amaurosis on chromosome 14q24'. En conjunto forman una huella única.

Citar esto