Dataset Information
APC gene mutations in Chinese familial adenomatous polyposis patients.
Ontology highlight
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.
SUBMITTER: Sheng JQ
PROVIDER: S-EPMC2846260 | biostudies-literature | 2010 Mar
REPOSITORIES: biostudies-literature
Publications
APC gene mutations in Chinese familial adenomatous polyposis patients.
World journal of gastroenterology 20100301 12
<h4>Aim</h4>To study the characteristics of APC (adenomatous polyposis coli) gene germline mutation in Chinese patients with familial adenomatous polyposis (FAP).<h4>Methods</h4>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).<h4>Results</h4>There w ...[more]