高红 王常林 杨立业 胡海地 李心元 110003 沈阳， 中国医科大学第二临床学院小儿外科(高红、 王常林、 杨立业、 李心元)；中国医科大学第一临床学院外科(胡海地) 中华小儿外科杂志 1998 0 19 6


    关键词：横纹肌肉瘤；甲基化作用；基因；p16 期刊 zhxrwkzz 0 临床研究 fur -->


    

摘要 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。

    Methylation of p16 Gene in Pediatric Rhabdomyosarcoma GaoHong, Wang Changlin, Yang Liye, et al. The Laboratory of Congenital Malformation, TheSecond Affiliated Hospital, China Medical University, Shenyang 110003.

    Abstract Objective: The aim of the study is to determine ifhypermethylation of p16 gene occurs in rhabdomyosarcoma and its clinical implication.Methods: Methylation pattern at 5'CpG island of p16 gene was studied with PCR,using methylation sensitive restriction endonucleases HpaⅡ, FnuDⅡ and SacⅡ andmethylation insensitive restriction endonuclease MspⅠ. Seven tumor specimens werecompared to the surrounding normal tissue.Results: No methylation was found at 5'CpGisland of exon 1 of p16 gene in normal tissue specimens whereas hypermethylation was foundin 3 specimens of rhabdomyosarcoma. The degree of hypermethylation varied in differentparts of the same tumor. Conclusions: Methylation occurs to various degrees in rhabdomyosarcoma. This could lead to impediment of gene 16 transcription and hence losethe regulation of cell proliferation. This probably contributes to the development of rhabdomyosarcoma.

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