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.
Article
Dans Chinois
| 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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Phénotype
/
Analyse de mutations d'ADN
/
Séquence nucléotidique
/
Réaction de polymérisation en chaîne
/
Chromatographie en phase liquide à haute performance
/
Mutation germinale
/
Polypose adénomateuse colique
/
Protéine de la polypose adénomateuse colique
/
Génétique
Type d'étude:
Étude pronostique
Limites du sujet:
Adolescent
/
Adulte
/
Enfant
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2006
Type:
Article
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