Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe.
Hum Mol Genet
; 2(4): 461-3, 1993 Apr.
Article
en En
| MEDLINE
| ID: mdl-8504307
ABSTRACT
A candidate gene, OCRL-1, for the oculocerebrorenal syndrome of Lowe (OCRL) has been identified via positional cloning strategies. We have now developed RT-PCR techniques which allow amplification of nearly all of the open reading frame from total RNA and have used the PCR products for mutational analysis. Single strand conformational polymorphism analysis detected aberrant migration in two unrelated patients, both of whom were shown to have the same nonsense mutation at base 2746 on direct sequencing. An additional patient was found to be missing a segment from his RNA that corresponds to an entire exon. The identification of mutations in the OCRL-1 gene provides strong genetic evidence for its being the gene involved in Lowe syndrome.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas
/
Monoéster Fosfórico Hidrolasas
/
Síndrome Oculocerebrorrenal
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Hum Mol Genet
Asunto de la revista:
BIOLOGIA MOLECULAR
/
GENETICA MEDICA
Año:
1993
Tipo del documento:
Article
País de afiliación:
Panamá