Dobbie Z, Spycher M, Mary J L, Häner M, Guldenschuh I, Hürliman R, Amman R, Roth J, Müller H, Scott R J
Department of Research, University Clinics Basle, Switzerland.
J Med Genet. 1996 Apr;33(4):274-80. doi: 10.1136/jmg.33.4.274.
The APC gene was investigated in 31 unrelated polyposis coli families by SSCP analysis and the protein truncation test. Twenty-three germline mutations were identified which gave rise to a variety of different phenotypes. Some of these mutations have already been described; however we report six previously unpublished mutations. Typical disease symptoms were observed in families who harboured mutations between exon 4 (codon 169) and codon 1393 of exon 15. Mutations beyond codon 1403 were associated with more varied phenotype with respect to the development of extracolonic symptoms. In this report we provide support for the notion that there appears to be a correlation between the location of an APC mutation (beyond codon 1403) and extracolonic manifestations of familial adenomatous polyposis.
通过单链构象多态性分析（SSCP）和蛋白质截短试验，对31个无亲缘关系的结肠息肉病家族中的APC基因进行了研究。共鉴定出23种种系突变，这些突变导致了多种不同的表型。其中一些突变已经有过报道；然而，我们报告了6种以前未发表过的突变。在第4外显子（密码子169）至第15外显子密码子1393之间存在突变的家族中观察到了典型的疾病症状。密码子1403之后的突变与结肠外症状发展方面更多样化的表型相关。在本报告中，我们支持以下观点：APC突变的位置（密码子1403之后）与家族性腺瘤性息肉病的结肠外表现之间似乎存在关联。
