兄弟同患多发性皮肤平滑肌瘤及其延胡索酸水合酶基因突变的分析
发布时间：2019-05-22 08:39
【摘要】：目的检测一对多发性皮肤平滑肌瘤兄弟延胡索酸水合酶(fumarate hydratase,FH)基因外显子突变情况,以明确其致病突变。方法收集患病兄弟的临床资料,提取其外周血DNA,通过PCR扩增FH基因编码区的全部外显子(n=10)并测序,以10例健康志愿者为对照。结果发现该兄弟均存在FH基因外显子7(c.927GGA)的无义杂合突变(p.P309P)和外显子9(c.1256CCT)错义杂合突变(p.S419L),其中前者是已知的突变位点,后者是新发现位点的突变。对照组均未发现上述位点的突变。结论外显子9(1256CCT)的错义突变可能是导致兄弟俩临床表型的原因,为该病的基因突变研究增加新的数据。
[Abstract]:Objective to detect the mutation in the exons of fumarate hydrate (fumarate hydratase,FH) gene in a pair of brothers with multiple skin leiomyoma in order to confirm the pathogenic mutation. Methods the clinical data of sick brothers were collected and all exons (n 鈮，
本文编号：2482813
[Abstract]:Objective to detect the mutation in the exons of fumarate hydrate (fumarate hydratase,FH) gene in a pair of brothers with multiple skin leiomyoma in order to confirm the pathogenic mutation. Methods the clinical data of sick brothers were collected and all exons (n 鈮，
本文编号：2482813
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