肿瘤生长抑制基因ING1在基底细胞上皮瘤中的表达及突变分析

Expression and Mutation Analysis of the ING1Tumor Suppressor in Human Basal Cell Epithelioma

目的研究肿瘤生长抑制基因ING1在基底细胞上皮瘤中是否存在过度表达及基因突变。方法搜集了54份基底细胞上皮瘤标本,运用免疫组织化学染色,DNA单链构象多态性分析(SSCP)及DNA序列测定的方法研究ING1基因在基底细胞上皮瘤中的表达及突变情况。结果免疫组化显示ING1基因在25%(6/24)基底细胞上皮瘤标本中过度表达。SSCP及DNA序列测定结果显示54例基底细胞上皮瘤标本中仅1例标本(1.8%)发生实质突变。突变发生在ING1基因编码区exon2,因而可能影响所有ING1异构体结构,并影响PHD锌指基序的功能。结论ING1基因在基底细胞上皮瘤中无明显过度表达及突变。

Objective To investigate whether ING1is overexpressed and/or mutated in human basal cell epithelioma.Methods Immunohistochemistry,single-strand conformation polymorphism(SSCP),and DNA sequencing were used to determine the expression and mutational status of the ING1gene in54biopsy specimens taken from patients with basal cell epithelioma.Results Immunohistochemical staining demon-strated that ING1was overexpressed in25%(6/24)of human basal cell epitheliomas.SSCP and DNA se-quencing revealed that only1in54(1.8%)basal cell epitheliomas contained a missense mutation in the ING1gene.The mutation was located in exon2,which could probably interfere with the structure of individ-ual ING1isoform and the functions of the PHD zinc finger motif.Conclusion Our data indicate that overex-pression and mutation of the ING1gene are infrequent in human basal cell epithelioma.