中国人群结,直肠癌P53基因失活突变热点的研究

ｐ５３基因是迄今发现与人类肿瘤相关性最高的基因，野生型ｐ５３基因的丢失或失活可能是细胞转化和肿瘤产生的重要步骤。本次研究，通过对３０例结、直肠癌患者手术后活检标本的分析，探讨中国人群中结、直肠癌ｐ５３基因失活突变在不同突变位点上的分布状态，并认为ｐ５３基因的Ａｒｇ－１３５－Ｈｉｓ是失活突变热点。在此基础上，对肿瘤标本ｐ５３基因突变与切除范围以外的边缘组织进行了比较。２０例病人突变仅存在于肿瘤组织，而正常组织没有突变。有两例患者，在肿瘤组织和边缘组织中均存在突变，边缘组织突变是杂合型，提示了患者的预后不良。

A Study of Mutational Hot Spot of p53 Suppressor Gene in Chinese Colorectal Carcinoma

So far,p53 gene is a gene closely related to human carcinoma.The loss or inactivation of wildtype p53 gene can lead to cell transformation and development of neoplasms.Specimens from 30 patients with colorectal cancer after operation were studied to elucidate the site of distribution of p53 gene mutation points.It is conclued that Arg-175-His is the hot spot of mutation of p53 gene in colorectal carcinoma.In 20 cases mutations were identified in the tumor tissues while were absent in normal adjacent tissue. In 2 cases mutation was found in both the tumor tissue and the adjacent normal tissue as well.the mutation in the surrounding tissues as well.the mutation in the surrounding tissues was heterozygote which heralded poor prognosis of the patients.