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A novel APC gene germline mutation in a familial adenomatous polyposis pedigree / 中华医学遗传学杂志
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>
Тема - темы
Полный текст: 1 База данных: WPRIM Основная тема: Pedigree / Phenotype / DNA Mutational Analysis / Base Sequence / Polymerase Chain Reaction / Chromatography, High Pressure Liquid / Germ-Line Mutation / Adenomatous Polyposis Coli / Adenomatous Polyposis Coli Protein / Genetics Тип исследования: Prognostic_studies Пределы темы: Adolescent / Adult / Child / Female / Humans / Male Язык: Zh Журнал: Chinese Journal of Medical Genetics Год: 2006 Тип: Article
Полный текст: 1 База данных: WPRIM Основная тема: Pedigree / Phenotype / DNA Mutational Analysis / Base Sequence / Polymerase Chain Reaction / Chromatography, High Pressure Liquid / Germ-Line Mutation / Adenomatous Polyposis Coli / Adenomatous Polyposis Coli Protein / Genetics Тип исследования: Prognostic_studies Пределы темы: Adolescent / Adult / Child / Female / Humans / Male Язык: Zh Журнал: Chinese Journal of Medical Genetics Год: 2006 Тип: Article