Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.
Nat Genet
; 10(1): 13-9, 1995 May.
Article
em En
| MEDLINE
| ID: mdl-7647783
ABSTRACT
Ocular albinism type 1 (OA1) is an X-linked disorder characterized by severe impairment of visual acuity, retinal hypopigmentation and the presence of macromelanosomes. We isolated a novel transcript from the OA1 critical region in Xp22.3-22.2 which is expressed at high levels in RNA samples from retina, including the retinal pigment epithelium, and from melanoma. This gene encodes a protein of 424 amino acids displaying several putative transmembrane domains and sharing no similarities with previously identified molecules. Five intragenic deletions and a 2 bp insertion resulting in a premature stop codon were identified from DNA analysis of patients with OA1, indicating that we have identified the OA1 gene.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Glicoproteínas de Membrana
/
Albinismo Ocular
/
Proteínas do Olho
/
Proteínas de Membrana
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nat Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
1995
Tipo de documento:
Article
País de afiliação:
Itália