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
в Zh
| WPRIM
| ID: wpr-263771
Ответственная библиотека:
WPRO
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>
Полный текст:
1
База данных:
WPRIM
Основная тема:
Pedigree
/
Phenotype
/
DNA Mutational Analysis
/
Base Sequence
/
Polymerase Chain Reaction
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Chromatography, High Pressure Liquid
/
Germ-Line Mutation
/
Adenomatous Polyposis Coli
/
Adenomatous Polyposis Coli Protein
/
Genetics
Тип исследования:
Prognostic_studies
Пределы темы:
Adolescent
/
Adult
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Child
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Female
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Humans
/
Male
Язык:
Zh
Журнал:
Chinese Journal of Medical Genetics
Год:
2006
Тип:
Article