Pauly M, Schmitz M, Kayser I, Lagoda P, Türeci O, Kerschen A, Weber J, Seitz G, Hentges F, Dicato M
Laboratoire de recherche sur le cancer et les maladies du sang (RCMS), Bâtiment des sciences, Centre universitaire de Luxembourg, Grand-Duchy of Luxembourg.
Biomed Pharmacother. 1998;52(5):220-8. doi: 10.1016/S0753-3322(98)80020-6.
Mutations in the p53 tumor suppressor gene are usually associated with an advanced development of colorectal cancer characterized by the transition from the adenoma to the carcinoma stage. We used the polymerase chain reaction (PCR) followed by single-strand conformation polymorphism (SSCP) analysis to screen for the presence of mutations in the p53 gene of patients from Luxembourg and the German Saar region with colorectal cancers at various developmental stages. While we detected no mutations in 16 colic polypi at an early to intermediate stage (adenoma), we revealed seven (13.7%) non-silent point mutations (transitions) in exons 5 to 9 of the p53 gene in 51 colorectal tumors at a late stage (carcinoma). In addition to confirming previous observations, these results show that PCR-SSCP analysis can provide both a sensitive and rapid method for the genetic determination of the histopathological stage of colorectal samples.
p53肿瘤抑制基因的突变通常与结直肠癌的进展相关，其特征是从腺瘤阶段向癌阶段的转变。我们采用聚合酶链反应（PCR），随后进行单链构象多态性（SSCP）分析，以筛查来自卢森堡和德国萨尔地区处于不同发展阶段的结直肠癌患者p53基因中突变的存在情况。虽然我们在16个处于早期至中期（腺瘤）的结肠息肉中未检测到突变，但在51个晚期（癌）结直肠肿瘤中，我们在p53基因的第5至9外显子中发现了7个（13.7%）非同义点突变（转换）。除了证实先前的观察结果外，这些结果表明，PCR-SSCP分析可为结直肠样本组织病理学阶段的基因测定提供一种灵敏且快速的方法。
