IDENTIFICATION AND CHARACTERIZATION OF THE FAMILIAL ADENOMATOUS POLYPOSIS-COLI GENE
IDENTIFICATION AND CHARACTERIZATION OF THE FAMILIAL ADENOMATOUS POLYPOSIS-COLI GENE
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DOI：
10.1016/0092-8674(81)90021-0
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发表时间：
1991-08-09
期刊：
影响因子：
64.5
通讯作者：
WHITE, R
中科院分区：
文献类型：
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作者：
GRODEN, J;THLIVERIS, A;WHITE, R
对61例无亲缘关系的大肠腺瘤性息肉病（APC）患者的DNA进行了检测，以检测位于其中2例患者缺失的100kb区域内的三个基因（DP1， SRP19和DP2.5）的突变。每个基因的内含子-外显子边界序列被定义，DP2.5外显子单链构象多态性分析鉴定出APC患者特有的4个突变。两个异常等位基因中的每一个都包含一个碱基取代，将预测肽中的一个氨基酸改变为一个停止密码子；其他突变是导致帧移的小缺失。其中一名患者父母的DNA分析表明，他的2 bp缺失是一个新的突变；此外，这种突变遗传给了他的两个孩子。这些数据证实DP2.5是APC基因。
DNA from 61 unrelated patients with adenomatous polyposis coli (APC) was examined for mutations in three genes (DP1, SRP19, and DP2.5) located within a 100 kb region deleted in two of the patients. The intron-exon boundary sequences were defined for each of these genes, and single-strand conformation polymorphism analysis of exons from DP2.5 identified four mutations specific to APC patients. Each of two aberrant alleles contained a base substitution changing an amino acid to a stop codon in the predicted peptide; the other mutations were small deletions leading to frameshifts. Analysis of DNA from parents of one of these patients showed that his 2 bp deletion is a new mutation; furthermore, the mutation was transmitted to two of his children. These data have established that DP2.5 is the APC gene.