| APC gene mutations in Chinese familial adenomatous polyposis patients. | |
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MedLine Citation:
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PMID: 20333795 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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 |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: World journal of gastroenterology : WJG Volume: 16 ISSN: 1007-9327 ISO Abbreviation: World J. Gastroenterol. Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-03-24 Completed Date: 2010-07-13 Revised Date: 2010-09-30 |
Medline Journal Info:
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Nlm Unique ID: 100883448 Medline TA: World J Gastroenterol Country: China |
Other Details:
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Languages: eng Pagination: 1522-6 Citation Subset: IM |
Affiliation:
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Department of Gastroenterology, General Hospital of Beijing Military Region, Beijing 100700, China. jianqiu@263.net |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adenomatous Polyposis Coli
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ethnology,
genetics* Adolescent Adult Asian Continental Ancestry Group / genetics Child China / epidemiology Codon, Nonsense DNA Mutational Analysis Exons Female Frameshift Mutation Gene Deletion Gene Expression Regulation, Neoplastic Genes, APC* Genetic Predisposition to Disease Germ-Line Mutation Humans Male Middle Aged Mutation* Pedigree Risk Factors Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Codon, Nonsense |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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