Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel.
Hum Mutat
; 11(1): 69-75, 1998.
Article
en En
| MEDLINE
| ID: mdl-9450906
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by neurodegeneration, immunodeficiency, cancer predisposition, and radiation sensitivity. The responsible gene, ATM, has an extensive genomic structure and encodes a large transcript with a 9.2 kb open reading frame (ORF). A-T mutations are extremely variable and most of them are private. We streamlined a high throughput protocol for the search for ATM mutations. The entire ATM ORF is amplified in a single RT-PCR step requiring a minimal amount of RNA. The product can serve for numerous nested PCRs in which overlapping portions of the ORF are further amplified and subjected to restriction endonuclease fingerprinting (REF) analysis. Splicing errors are readily detectable during the initial amplification of each portion. Using this protocol, we identified 5 novel A-T mutations and completed the elucidation of the molecular basis of A-T in the Israeli population.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ataxia Telangiectasia
/
Mapeo Restrictivo
/
Proteínas
/
Reacción en Cadena de la Polimerasa
/
Dermatoglifia del ADN
/
Proteínas Serina-Treonina Quinasas
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
País/Región como asunto:
Asia
Idioma:
En
Revista:
Hum Mutat
Asunto de la revista:
GENETICA MEDICA
Año:
1998
Tipo del documento:
Article
País de afiliación:
Israel
Pais de publicación:
Estados Unidos