ALLELES OF THE APC GENE - AN ATTENUATED FORM OF FAMILIAL POLYPOSIS
ALLELES OF THE APC GENE - AN ATTENUATED FORM OF FAMILIAL POLYPOSIS
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DOI：
10.1016/0092-8674(93)90538-2
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发表时间：
1993-12-03
期刊：
影响因子：
64.5
通讯作者：
WHITE, R
中科院分区：
文献类型：
--
作者：
SPIRIO, L;OLSCHWANG, S;WHITE, R
家族性腺瘤性结肠息肉病的减毒形式 AAPC 引起的结肠息肉相对较少，但仍然具有罹患结肠癌的显着风险。导致这种减毒表型的突变等位基因已在几个家族中定位到人类染色体 5q 上的腺瘤性息肉病 (APC) 基因座。目前已在七个 AAPC 家族中发现了 APC 基因的四种不同突变。这些通过单碱基对变化或移码预测截断产物的突变与经典 APC 家族中发现的突变相似。然而，它们的不同之处在于，四个突变位点彼此非常接近，并且比在经典 APC 患者中发现的任何碱基替换或小缺失更靠近 APC 基因的 5' 端。
An attenuated form of familial adenomatous polyposis coli, AAPC, causes relatively few colonic polyps, but still carries a significant risk of colon cancer. The mutant alleles responsible for this attenuated phenotype have been mapped in several families to the adenomatous polyposis coli (APC) locus on human chromosome 5q. Four distinct mutations in the APC gene have now been identified in seven AAPC families. These mutations that predict truncation products, either by single base pair changes or frameshifts, are similar to mutations identified in families with classical APC. However, they differ in that the four mutated sites are located very close to one another and nearer the 5' end of the APC gene than any base substitutions or small deletions yet discovered in patients with classical APC.