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目的:研究人类胚胎肌肉源性自发恶性转化细胞系抑癌基因的改变.方法:运用免疫组化、PCR,PCR产物直接测序研究该类细胞系抑癌基因p16,p15,MTAP(甲硫氨酸磷酸化酶)和p53基因及蛋白的改变.结果:在染色体9p21处存在纯合性片段缺失,包括p16,p15及MTAP;对p53基因突变率高发的外显子7,8及内含子7测序发现存在范围较大的突变,外显子突变率高达13%,皆为点突变,而内含子变异更甚,包括小片段缺失、插入、移位及点突变,其几与正常p53序列无明显相似性,在测序的6个细胞系中(含5个不同遗传背景)突变序列具有高度一致性.结论:多种抑癌基因的变异在正常胚胎肌肉细胞自发恶性转化进程中具有重要的作用.
OBJECTIVE: To study the changes of tumor suppressor genes in human embryonic myogenic malignant transformed cells.Methods: The expression of tumor suppressor genes p16, p15 and MTAP (methionine) were studied by immunohistochemistry, PCR and PCR products, Phosphorylase) and p53 gene and protein.Results: The deletion of homozygous fragment at chromosome 9p21, including p16, p15 and MTAP, exon 7,8 and intron 7 with high mutation rate of p53 gene Sequencing revealed a wide range of mutations, with exon mutation rates as high as 13%, all of which were point mutations. Introns varied even more, including small deletions, insertions, translocations and point mutations, which were associated with normal p53 sequences There was no significant similarity among the six cell lines sequenced (including five different genetic backgrounds), and the mutations were highly consistent.Conclusion: Variation of multiple tumor suppressor genes is important in the process of spontaneous malignant transformation of normal embryonic muscle cells effect.