Sheng JQ, Cui WJ, Fu L, Jin P, Han Y, Li SJ, Fan RY, Li AQ, Zhang MZ, Li SR. APC gene mutations in Chinese familial adenomatous polyposis patients. World J Gastroenterol 2010; 16(12): 1522-1526 [PMID: 20333795 DOI: 10.3748/wjg.v16.i12.1522]
Corresponding Author of This Article
Jian-Qiu Sheng, MD, Professor, Department of Gastroenterology, General Hospital of Beijing Military Region, Nanmenchang 5, Dongcheng District, Beijing 100700, China. jianqiu@263.net
Article-Type of This Article
Brief Article
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World J Gastroenterol. Mar 28, 2010; 16(12): 1522-1526 Published online Mar 28, 2010. doi: 10.3748/wjg.v16.i12.1522
APC gene mutations in Chinese familial adenomatous polyposis patients
Jian-Qiu Sheng, Wei-Jia Cui, Lei Fu, Peng Jin, Ying Han, Shu-Jun Li, Ru-Ying Fan, Ai-Qin Li, Ming-Zhi Zhang, Shi-Rong Li
Jian-Qiu Sheng, Lei Fu, Peng Jin, Ying Han, Shu-Jun Li, Ru-Ying Fan, Ai-Qin Li, Shi-Rong Li, Department of Gastroenterology, General Hospital of Beijing Military Region, Beijing 100700, China
Wei-Jia Cui, Ming-Zhi Zhang, Department of Oncology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, Henan Province, China
Author contributions: Sheng JQ and Li SR designed the research; Sheng JQ, Cui WJ, Fu L and Jin P performed the research and analyzed the data; Han Y, Li SJ, Fan RY, Li AQ and Zhang MZ collected the biological samples; Sheng JQ and Cui WJ wrote the paper.
Supported by The National Natural Science Foundation of China, No. 30940086
Correspondence to: Jian-Qiu Sheng, MD, Professor, Department of Gastroenterology, General Hospital of Beijing Military Region, Nanmenchang 5, Dongcheng District, Beijing 100700, China. jianqiu@263.net
Telephone: +86-10-66721014 Fax: +86-10-66721299
Received: November 15, 2009 Revised: December 25, 2009 Accepted: January 1, 2010 Published online: March 28, 2010
Abstract
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.
