[Analysis of C.3925_3929 deletional mutations of APC gene in pedigrees with familial adenomatous polyposis].

@article{Chen2015AnalysisOC,
  title={[Analysis of C.3925_3929 deletional mutations of APC gene in pedigrees with familial adenomatous polyposis].},
  author={Qingwei Chen and Siwen Liu and Jifeng Feng and Xiaomei Zhang and Senqing Chen and Guojian Ma and Ming Zhu and Yuanying Zhang and Jun Yu},
  journal={Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics},
  year={2015},
  volume={32 4},
  pages={524-8}
}
OBJECTIVE To analyze the characteristics of germline mutations of adenomatous polyposis coli (APC) gene in pedigrees affected with familial adenomatous polyposis (FAP). METHODS Genomic DNA was extracted from peripheral blood samples from members of the 13 FAP pedigrees. Multiplex ligation-dependent probe amplification (MLPA) was used to detect large fragment deletions of the APC gene. Subsequently, potential mutation was screened from all exons of the APC gene with PCR amplification and… CONTINUE READING

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