武君 王慧贞 吉士俊 张学 110003 沈阳，中国医科大学第二临床学院小儿外科 中华小儿外科杂志 1998 0 19 4


    关键词：Hirschsprung病；致癌基因 期刊 zhxrwkzz 0 临床研究 fur -->


    

摘要 目的：明确中国散发先天性巨结肠症是否有原癌基因RET突变。 方法： 30例中国散发先天性巨结肠症。提取基因组DNA； 聚合酶链反应(PCR)扩增RET基因第6、13、15、17外显子；单链构象多态(SSCP)分析上述外显子是否有突变。 结果： 6例长段型先天性巨结肠症，2例有RET基因突变； 普通型及短段型未见RET基因突变。 2例突变位点均是RET基因的第13外显子。结论： 中国散发先天性巨结肠症长段型有RET基因突变，提示原癌基因RET与先天性巨结肠症的发生有关。

    PCR-SSCP Analysis of RET Proto-oncogene inHirschsprung's Disease Wu Jun, Wang Huizhen, Ji Shijun, et al. Dept. of Pediat. Surgery, The 2nd Affiliated Hospital, ChinaMedical University, Shenyang 110003.

    Abstract Objective: To investigate the mutation of RET Proto-oncogene insporadic Hirschsprung's disease (HD) in Chinese population. Methods: Genomic DNA wasextracted from 30 unrelated HD patients. Exon 6, 13, 15, 17 of RET proto-oncogene wereamplified by polymerase chain reaction (PCR) and analyzed by single strand conformationpolymorphism (SSCP). Results: RET mutations were detected in 2 of the 6 long-segment HDs.The 2 mutants were all in the exon 13. No mutations were detected in the ordinary orshort-segment HD. Conclusion: The RET proto-oncogene plays an important role in thepathogenesis of HD.

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