A novel APC gene germline mutation in a familial adenomatous polyposis pedigree / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 388-391, 2006.
Artículo
en Chino
| WPRIM
| ID: wpr-263771
ABSTRACT
<p><b>OBJECTIVE</b>To detect the adenomatous polyposis coli (APC) gene germline mutation in the proband and her family members with familial adenomatous polyposis (FAP).</p><p><b>METHODS</b>The diagnosis of a patient with FAP was validated by colonoscopy, pathology and the family history. The systematic screening with multiplex ligation-dependent probe amplification (MLPA), denaturing high-performance liquid chromatography (DHPLC) and DNA sequencing were carried out to detect APC gene germline mutations.</p><p><b>RESULTS</b>A novel mutation c.1999 C >T (Q667X) of APC, which leads to premature termination of the protein, was identified in this family. This mutation manifested an aggressive form of FAP with early onset of colorectal adenocarcinoma and colonic adenoma.</p><p><b>CONCLUSION</b>The mutation of APC Q667X is the cause of clinical phenotype of this family with FAP, and the prophylactic colectomy for the affected family members should be considered.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Fenotipo
/
Análisis Mutacional de ADN
/
Secuencia de Bases
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Reacción en Cadena de la Polimerasa
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Cromatografía Líquida de Alta Presión
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Mutación de Línea Germinal
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Poliposis Adenomatosa del Colon
/
Proteína de la Poliposis Adenomatosa del Colon
/
Genética
Tipo de estudio:
Estudio pronóstico
Límite:
Adolescente
/
Adulto
/
Niño
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2006
Tipo del documento:
Artículo
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