RAPID DETECTION OF TRANSLATION-TERMINATING MUTATIONS AT THE ADENOMATOUS POLYPOSIS-COLI (APC) GENE BY DIRECT PROTEIN TRUNCATION TEST
RAPID DETECTION OF TRANSLATION-TERMINATING MUTATIONS AT THE ADENOMATOUS POLYPOSIS-COLI (APC) GENE BY DIRECT PROTEIN TRUNCATION TEST
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DOI：
10.1006/geno.1994.1119
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发表时间：
1994-03-01
期刊：
影响因子：
4.4
通讯作者：
FODDE, R
中科院分区：
文献类型：
--
作者：
VANDERLUIJT, R;KHAN, PM;FODDE, R
家族性腺瘤性息肉病（FAP）通常与结肠腺瘤性息肉病（APC）基因的蛋白质截短突变有关。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、改良的直接筛选方法。该技术基于基因组PCR产物的体外转录和翻译，称为蛋白质截短试验。使用来自个体FAP患者、FAP家族成员、结直肠肿瘤和结直肠肿瘤衍生细胞系的DNA样品来显示该方法的有效性。(C)1994年出版社出版。
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, amen 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. (C) 1994 Academic Press, Inc.