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目的:探讨小儿横纹肌肉瘤p16基因有否高甲基化状态及其临床意义。方法:对7例(8份)横纹肌肉瘤标本和7例肉瘤周围正常组织应用甲基化敏感的HpaⅡ、FnuDⅡ、SacⅡ3种限制性内切酶和甲基不敏感MspⅠ限制性内切酶结合PCR扩增手段,对p16基因第1外显子的二核苷酸胞嘧啶(5’CpG)岛区进行甲基化检测。结果:对照7例p16基因第1外显子5’CpG岛3个酶切位点无甲基化,3例肉瘤组织中存在这3个酶切位点的甲基化现象。结论:小儿横纹肌肉瘤在p16基因第1外显子5’CpG岛存在高甲基化现象,它可能导致p16基因转录受阻,从而失去了对细胞增殖的负性调控作用,导致了横纹肌肉瘤发生和发展
Objective: To investigate whether pediatric rhabdomyosarcoma p16 gene hypermethylation status and its clinical significance. Methods: Methylation-sensitive HpaⅡ, FnuDⅡ and SacⅡ restriction endonucleases and methyl-insensitive MspⅠ restriction endonucleases were used in 7 cases (8 cases) of rhabdomyosarcoma and 7 cases of normal tissues around sarcoma By means of amplification, the methylation of dinucleotide cytosine (5’CpG) island of exon 1 of p16 gene was detected. Results: There was no methylation in the 3 restriction sites of the 5’CpG island of the first exon of p16 gene in 7 cases, and methylation of these 3 sites in 3 cases of sarcoma. CONCLUSION: Pedigree rhabdomyosarcoma has hypermethylation in 5’CpG island of exon 1 of p16 gene, which may result in blocked transcription of p16 gene and loss of negative regulatory effect on cell proliferation, resulting in the occurrence and development of rhabdomyosarcoma