van der Luijt R, Khan P M, Vasen H, van Leeuwen C, Tops C, Roest P, den Dunnen J, Fodde R
MGC Department of Human Genetics, Sylvius Laboratory, Leiden University, The Netherlands.
Genomics. 1994 Mar 1;20(1):1-4. doi: 10.1006/geno.1994.1119.
Familial adenomatous polyposis (FAP) is usually associated with protein truncating mutations in the adenomatous polyposis coli (APC) gene. The APC mutations are known to play a major role in colorectal carcinogenesis. For the identification of protein truncating mutations of the APC gene, we developed a rapid, sensitive, and direct screening procedure. The technique is based on the in vitro transcription and translation of the genomic PCR products and is called the protein truncation test. Samples of DNA from individual FAP patients, members of a FAP family, colorectal tumors, and colorectal tumor-derived cell lines were used to show the effectiveness of this method.
家族性腺瘤性息肉病（FAP）通常与腺瘤性息肉病 coli（APC）基因中的蛋白质截短突变相关。已知 APC 突变在结直肠癌发生中起主要作用。为了鉴定 APC 基因的蛋白质截短突变，我们开发了一种快速、灵敏且直接的筛选程序。该技术基于基因组 PCR 产物的体外转录和翻译，被称为蛋白质截短试验。来自个体 FAP 患者、FAP 家族成员、结直肠肿瘤以及结直肠肿瘤衍生细胞系的 DNA 样本被用于证明该方法的有效性。
