[1]杨治宇),吴庆华),信艳萍),等.黑斑息肉综合征一例基因分析及临床诊治[J].郑州大学学报(医学版),2018,(02):261-264.[doi:10.13705/j.issn.1671-6825.2017.09.057]
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黑斑息肉综合征一例基因分析及临床诊治()
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《郑州大学学报(医学版)》[ISSN:1671-6825/CN:41-1340/R]

卷:
期数:
2018年02期
页码:
261-264
栏目:
应用研究
出版日期:
2018-03-20

文章信息/Info

作者:
杨治宇1)吴庆华2)信艳萍3)张 毅4)史惠蓉1)
1)郑州大学第一附属医院妇科 郑州 450052
2)郑州大学第一附属医院遗传与产前诊断中心 郑州 450052
3)郑州大学附属郑州中心医院 郑州 450052
4)郑州大学第一附属医院生物治疗中心 郑州 450052
关键词:
黑斑息肉综合征 STK11基因 基因诊断
分类号:
R715.5
DOI:
10.13705/j.issn.1671-6825.2017.09.057
摘要:
目的:进一步掌握黑斑息肉综合征(PJS)的临床诊治重点。方法:回顾性分析一例PJS患者55 a的病史资料和6 a随访资料。采用PCR和测序法对患者进行STK11基因筛查。结果:该患者有典型的口唇黏膜色素沉着,反复多发消化道息肉并出现肠套叠1次,经基因检测提示携带STK11 基因c.910C→T(p.R304W)杂合突变。经积极诊治,至今患者病情稳定,状况良好。结论:内镜定期监测消化道息肉发生和积极干预治疗可改善该病的预后; 对PJS家庭开展基因筛查和妊娠相关的遗传咨询有重要意义。

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备注/Memo

备注/Memo:
【作者简介】史惠蓉,通信作者,女,1956年4月生,博士,教授,研究方向:妇科肿瘤,E-mail:hrshi2012@163.com
更新日期/Last Update: 2018-03-20