- 作者: Shu-Chen Wei; Yi-Ning Su; Jyy-Jih Tsai-Wu; C.-H. Herbert Wu; Jin-Chuan Sheul; Cheng-Yi Wang; Jau-Min Wong
- 作者服務機構: Departments of Internal Medicine, Medical Genetics and Medical Research, Natioal Taiwan University Hospital and College of Medicine, Institute of Molecular Medicine , Medical Colege, National Taiwan University, AbGenomics Co., Taipei, Neuro-Medical Scientific Center, Buddhist Tzu Chi Medical Center, Hualien, Taiwan, ROC
- 中文摘要: --
- 英文摘要: Colorectal cancer has become the third leading cause ofdeath from cancer in Taiwan.Familial adenomatouspolyposis(FAP) is an autosomal dominant inherited dis-ease characterized by the presence of multiple adenoma-tous polyps in the colon and rectum.The gene responsi-ble for FAP (APC) was cloned in 1991.Extensive analysesof the mutation spectra in FAP kindreds have been per-formed in different countries, but the results have beenhighly variable (30-80%) .In this study, we used denatur-ing high-performance liquid chromatography(DHPLC)followed by automatic sequencing in an effort to estab-lish the mutation spectrum of APC from DNA of peripher-al blood cells. Among the 6 FAP probands analyzed,mutations were detected in 3(50%),2 of which were nov-e1.The first novel mutation was at codon 2166, with a Cto T transition,resulting in a stop codon.The secondnovel mutation was at codon 1971,with a C to G trans-version,resulting in an amino acid change from serine tocysteine. The third mutation involved an A insertion inthe sequence of -AAAAAA- at codons 1554-1556, whichcreated a downstream stop codon(codon 1558). Thisstudy is the first to report mutation analysis in TaiwaneseFAP probands·
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