Aszterbaum M, Rothman A, Johnson R L, Fisher M, Xie J, Bonifas J M, Zhang X, Scott M P, Epstein E H
Department of Dermatology, University of California, San Francisco, USA.
J Invest Dermatol. 1998 Jun;110(6):885-8. doi: 10.1046/j.1523-1747.1998.00222.x.
Mutations in PATCHED (PTC), the human homolog of the Drosophila patched gene, have been identified in most exons of the gene in patients with the basal cell nevus syndrome and in sporadic basal cell carcinomas. We have screened the 23 PTC exons for mutations using single strand conformation polymorphism analysis of DNA from 86 basal cell nevus syndrome probands, 26 sporadic basal cell carcinomas, and seven basal cell nevus syndrome-associated basal cell carcinomas. This screen identified mutations located in eight exons in 13 of the basal cell nevus syndrome patients and in three of the tumors. The most common mutations were frameshifts resulting in premature chain termination. These results provide further evidence for the crucial role of PTC as a tumor suppressor in human keratinocytes.
果蝇patched基因的人类同源基因PATCHED（PTC）的突变，已在基底细胞痣综合征患者和散发性基底细胞癌患者的该基因的大多数外显子中被鉴定出来。我们使用单链构象多态性分析，对86名基底细胞痣综合征先证者、26例散发性基底细胞癌和7例基底细胞痣综合征相关基底细胞癌的DNA进行了检测，以筛查23个PTC外显子中的突变。该筛查在13例基底细胞痣综合征患者和3例肿瘤中的8个外显子中发现了突变。最常见的突变是导致提前链终止的移码突变。这些结果进一步证明了PTC作为人类角质形成细胞中的肿瘤抑制因子的关键作用。
