论文部分内容阅读
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