Nimura Y, Furuwatari C, Fujimori M, Fujimori Y, Nakata S, Ito K, Hama Y, Shingu K, Adachi W, Ogiso Y, Furihata K, Katsuyama T, Amano J
Department of Surgery, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390, Japan.
Jpn J Hum Genet. 1997 Sep;42(3):433-9. doi: 10.1007/BF02766945.
Germline mutations of the adenomatous polyposis coli (APC) gene have been reported in patients with familial adenomatous polyposis (FAP) and are believed to be an early event in colorectal carcinoma. We report the results of screening for germline mutations of the APC gene in 4 cases of 2 kindreds using non-radioactive PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) analysis. The mutation in kindred 1 was a 4 bp deletion at codon 849 in exon 15, resulting in a frameshift leading to truncation of the APC gene product. In kindred 2, a transversion of C to G at codon 2038 was observed, resulting in an amino acid change from leucine to valine. In this case, it is possible to screen presymptomatic diagnosis easily and quickly by digestion with restriction enzyme EcoNI.
据报道，家族性腺瘤性息肉病（FAP）患者存在腺瘤性息肉病 coli（APC）基因的种系突变，并且被认为是结直肠癌的早期事件。我们报告了使用非放射性 PCR-SSCP（聚合酶链反应-单链构象多态性）分析对 2 个家系中的 4 例患者进行 APC 基因种系突变筛查的结果。家系 1 中的突变是外显子 15 中第 849 密码子处 4 个碱基对的缺失，导致移码，从而使 APC 基因产物截短。在家系 2 中，观察到第 2038 密码子处 C 到 G 的颠换，导致氨基酸从亮氨酸变为缬氨酸。在这种情况下，通过用限制性内切酶 EcoNI 消化可以轻松快速地进行症状前诊断筛查。
