【摘要】 目的探讨β联蛋白的突变基因及其蛋白表达与毛母质瘤发生的关系。方法选取67例毛母质瘤的组织标本进行β联蛋白的免疫染色,提取基因组DNA,进行β联蛋白的PCR扩增及测序,用克隆、测序及限制性内切酶的方法证实突变的存在。结果毛母质瘤中嗜碱粒细胞β联蛋白免疫染色阳性率为81%(26/32),β联蛋白外显子3基因突变率为61%(14/23)。其突变均位于β联蛋白外显子3的磷酸化位点或邻近位点。结论β联蛋白的基因突变及其核阳性与毛母质瘤的发生有关。更多还原

【Abstract】 Objective To explore the relationship of gene mutation and protein expression ofβ-catenin with tumorigenesis of pilomatricoma.Methods Sixty-seven specimens of pilomatricoma were ex- amined forβ-catenin expression by immunohistochemistry.Genomic DNA was extracted from 23 specimens positive for nuclearβ-catenin and 4 negative for nuclearβ-catenin,then amplified and sequenced.The gene mutation ofβ-catenin was confirmed by subcloning and restriction endonuclease assay.Results Of the 67 specimens,49 were positive forβ-catenin;basophilic cells were detected in 32 of the 49 positive specimens, among which,81%(26/32)displayed nuclear staining ofβ-catenin in basophilic cells.Sequence analysis revealed a mutation rate of 61%(14/23)in exon 3 ofβ-catenin.The mutations were located at or adjacent to the phosphorylation sites in exon 3 ofβ-catenin.However,no mutations were detected in the 4 specimens negative for nuclearβ-catenin.Conclusion The gene mutation and nuclear expression ofβ-catenin may contribute to the tumorigenesis of pilomatricoma.更多还原