Konishi K, Yamanishi K, Ishizaki K, Yamada K, Kishimoto S, Yasuno H
Department of Dermatology, Kyoto Prefectural University of Medicine, Japan.
Cancer Lett. 1994 Apr 29;79(1):67-72. doi: 10.1016/0304-3835(94)90064-7.
To determine the role of the p53 gene in the pathogenesis of basal cell carcinoma (BCC), we screened mutations of the gene in 11 cases of BCCs using the polymerase chain reaction (PCR) and single-stranded conformation polymorphism (SSCP). However, in all the coding exons of the gene analysed, no evidence suggesting the mutations were obtained. On the other hand, in 2 of 5 informative cases of our BCCs (40%) we found loss of heterozygosity (LOH) for loci on chromosome 9q31 which is linked to the Gorlin syndrome, that predisposes to BCC. Therefore, we suggest that a putative tumor suppressor gene on the region of 9q, but not p53 gene, plays a critical role in the pathogenesis of BCC, independent of race.
为了确定p53基因在基底细胞癌（BCC）发病机制中的作用，我们使用聚合酶链反应（PCR）和单链构象多态性（SSCP）技术，对11例基底细胞癌患者的该基因进行了突变筛查。然而，在所分析的该基因所有编码外显子中，未获得任何表明存在突变的证据。另一方面，在我们所研究的5例具有信息价值的基底细胞癌病例中，有2例（40%）发现9q31染色体位点杂合性缺失（LOH），该位点与易患基底细胞癌的戈林综合征相关。因此，我们认为，9q区域的一个假定肿瘤抑制基因而非p53基因，在基底细胞癌的发病机制中起着关键作用，且与种族无关。
