p53 gene mutations in colorectal tumors from patients with familial polyposis coli.
p53 gene mutations in colorectal tumors from patients with familial polyposis coli.
复制标题
家族性息肉病患者结直肠肿瘤中的 p53 基因突变。
作者：
S. Shirasawa;K. Urabe;Y. Yanagawa;K. Toshitani;T. Iwama;T. Sasazuki
P53基因是一种肿瘤抑制基因，该基因的缺失或点突变导致的失活可能在人类恶性肿瘤的发生发展中起重要作用。在P53基因缺失的结直肠癌中，剩余的P53基因发生相当频繁的突变。虽然已经观察到了四个热点，但最难检测到该基因的点突变或微小缺失，因为这些突变发生在不同的区域[J.M.Ngro等人，Natural(Lond.)，342：705-708,1989]。聚合酶链式反应和变性梯度凝胶电泳法有助于检测P53基因热点突变。使用这些方法，我们检测了来自家族性结肠息肉病患者的三例腺瘤性息肉和一例癌以及三例散发病例的癌组织中的突变。DNA序列分析证实，来自家族性结肠息肉病患者的2个腺瘤(一个13个碱基对缺失，另一个是一个点突变)和1个癌(点突变)中存在p53基因突变。这些结果表明，P53基因突变不仅可能与癌的形成有关，而且可能与家族性结肠息肉病患者的腺瘤的形成有关。
The p53 gene has been elucidated as a tumor suppressor gene, and inactivation of this gene caused by deletion or point mutations may play a crucial role in the development of human malignancies. In colorectal carcinomas with an allelic deletion of the p53 gene, the remaining p53 gene was mutated with considerable frequency. It is most difficult to detect point mutations or small deletions of the gene because the mutations occur in diverse regions, although four hot spots have been observed [J.M. Nigro et al., Nature (Lond.), 342: 705-708, 1989]. The polymerase chain reaction and denaturing gradient gel electrophoresis facilitate detection of mutations in the hot spots of the p53 gene. Using these methods, we detected mutations in three adenomatous polyps and one carcinoma from familial polyposis coli patients and three carcinomas of sporadic cases. The DNA sequence analysis confirmed mutations of the p53 gene in 2 adenomas (13 base-pair deletions in one and a point mutation in the other) and 1 carcinoma (point mutation) from familial polyposis coli patients. These results suggest that the p53 gene mutations may be involved in the formation not only of carcinomas but also of adenomas which occur in familial polyposis coli patients.
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影响因子：
56.9
作者：
LEPPERT, M;DOBBS, M;WHITE, R
通讯作者：
WHITE, R
影响因子：
56.9
作者：
BAKER, SJ;FEARON, ER;VOGELSTEIN, B
通讯作者：
VOGELSTEIN, B
DOI：
10.1073/pnas.86.1.232
发表时间：
1989-01-01
影响因子：
11.1
作者：
SHEFFIELD, VC;COX, DR;MYERS, RM
通讯作者：
MYERS, RM
影响因子：
56.9
作者：
FEARON, ER;CHO, KR;VOGELSTEIN, B
通讯作者：
VOGELSTEIN, B
影响因子：
56.9
作者：
VOGELSTEIN, B;FEARON, ER;WHITE, R
通讯作者：
WHITE, R