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目的检测成釉细胞瘤中是否存在成釉蛋白(AMBN)基因的异常。方法收集10例成釉细胞瘤和1例成釉细胞癌的新鲜组织标本及相应外周血或牙龈黏膜组织,直接测序法分析AMBN基因;同时采用限制性片段长度多态性分析(RFLP)验证AMBN基因突变。结果所有11例肿瘤中均未检测到AMBN基因突变,在9例肿瘤中发现的7种序列改变均为AMBN基因的多态性,其中3种为尚未报道的新位点。这3种多态性的基因型和等位基因型频率在健康人中的分布符合遗传平衡定律(Hardy-Weinberg平衡),且在肿瘤患者和健康人中的发生频率差异无统计学意义(P>0.05)。结论本组成釉细胞瘤中未发现AMBN基因突变,所发现的AMBN序列改变均属多态性,且与肿瘤发生并无明确关系。
Objective To detect whether ameloblastoma (AMBN) gene is abnormal in ameloblastoma. Methods Ten specimens of ameloblastoma and one specimen of ameloblastoma were collected and their peripheral blood or gingival mucosa tissues were collected. The AMBN gene was analyzed by direct sequencing. The AMBN gene was verified by restriction fragment length polymorphism (RFLP) Gene mutation. Results No mutation of AMBN gene was detected in all 11 cases. The 7 kinds of sequence changes found in all 9 cases were polymorphisms of AMBN gene, of which 3 were not reported as new sites. The distributions of genotypes and alleles of these three polymorphisms in healthy individuals were in line with the law of genetic balance (Hardy-Weinberg equilibrium), and there was no significant difference in the frequency of occurrence between cancer patients and healthy individuals (P > 0.05). Conclusion The AMBN gene mutation was not found in the ameloblastoma. The AMBN sequence changes were found to be polymorphic and not related to tumorigenesis.