APC gene mutations in Chinese familial adenomatous polyposis patients

作者：Sheng, Jian-Qiu^*; Cui, Wei-Jia; Fu, Lei; Jin, Peng; Han, Ying; Li, Shu-Jun; Fan, Ru-Ying; Li, Ai-Qin; Zhang, Ming-Zhi; Li, Shi-Rong

来源：World Journal of Gastroenterology, 2010, 16(12): 1522-1526.

DOI：10.3748/wjg.v16.i12.1522

• Adenomatous polyposis coli gene
• Familial adenomatous polyposis
• Large fragment deletion
• Multiplex ligation-dependent probe amplification
• Mutation

AIM: To study the characteristics of APC (adenomatous polyposis coli) gene germline mutation in Chinese patients with familial adenomatous polyposis (FAP).
METHODS: APC gene from 14 FAP families was amplified by polymerase chain reaction (PCR) and underwent direct sequencing to determine the micromutation type. For the samples without micromutation, the large fragment deletion of APC gene was examined by multiplex ligation-dependent probe amplification (MLPA).
RESULTS: There were gene micromutations in 9 families with a micromutation detection rate of 64.3% (9/14), including 6 frameshift mutations (66.7%), 1 nonsense mutation (11.1%) and 2 splicing mutations (22.2%). Large fragment deletions were detected by MLPA in 2 families. The total mutation detection rate of micromutations and large fragment deletions was 78.6% (11/14).
CONCLUSION: The detection rate of APC gene germline mutation can be improved by direct sequencing combined with MLPA large fragment deletion detection.

• 出版日期2010-3-28
• 单位中国人民解放军陆军总医院; 郑州大学