{"title":"Mutations of RET proto-oncogene in Chinese familial Hirschsprung's disease","authors":"管涛, 李继承, 李民驹, 钭金法","doi":"10.3760/CMA.J.ISSN.0253-3006.2003.06.012","DOIUrl":null,"url":null,"abstract":"目的研究中国人先天性巨结肠(HD)与RET基因突变之间的关系.方法采用聚合酶链反应-单链构象多态性分析(PCR-SSCP)技术及DNA测序,对RET基因第13外显子突变阳性HD患儿的家系作研究,并对另38例散发性HD和30例健康无便秘史儿童进行突变筛查.结果在家系1中,3例患儿均发现在RET基因碱基18974位插入G,导致框架移位突变.在家系2中,先证者在碱基18888位发生T→G的杂和性替代,导致Leu745Leu同义突变,其父亲为该致病突变的携带者,母亲正常.另38例散发性HD中,2例为突变阳性.结论中国人HD的发生与RET基因突变有密切关系,该基因突变是家族性HD重要的分子遗传学基础.","PeriodicalId":0,"journal":{"name":"","volume":" ","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2003-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3760/CMA.J.ISSN.0253-3006.2003.06.012","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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