中华皮肤科杂志 ›› 2014, Vol. 47 ›› Issue (9): 669-670.

• 研究报道 • 上一篇    下一篇

泛发性肥大细胞增多症一例及KIT基因突变研究

杜斌1,1,汪慧君2,林志淼3   

  1. 1. 大庆油田总医院
    2. 北京大学第一医院
    3. 北京大学第一医院皮肤科
  • 收稿日期:2013-09-16 修回日期:2014-04-16 出版日期:2014-09-15 发布日期:2014-09-01
  • 通讯作者: 杜斌 E-mail:dqxiaobin2000@163.com
  • 基金资助:
    国家自然科学基金青年科学基金

Diffuse cutaneous mastocytosis: a case report and mutation analysis of the KIT gene

  • Received:2013-09-16 Revised:2014-04-16 Online:2014-09-15 Published:2014-09-01
  • Contact: bin E-mail:dqxiaobin2000@163.com

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摘要： 目的 检测1例泛发性肥大细胞增多症患者KIT基因突变情况，为患者提供预后判断及治疗选择。 方法 收集患者临床资料，提取患者，其父母以及200例健康人外周血DNA，采用PCR扩增KIT基因编码区的全部外显子及其侧翼序列并测序。 结果 基因检测发现患者外周血DNA中的KIT基因发生c.1526A > T杂合突变，导致氨基酸出现p.Lys509Ile改变，父母及200例健康对照均未见相同突变。 结论 KIT基因p.Lys509Ile突变可能为泛发性肥大细胞增多症患者病因之一。

关键词: 肥大细胞增生症，皮肤, KIT, DNA突变分析

Abstract: Du Bin*, Wang Huijun, Lin Zhimiao. *Department of Dermatology, Daqing Oilfield General Hospital, Daqing 163001, Heilongjiang, China Corresponding author: Du Bin, Email: dqxiaobin2000@163.com 【Abstract】 Objective To analyze KIT gene mutations in one patient with diffuse cutaneous mastocytosis （DCM）, and to provide a basis for the prediction of prognosis and selection of treatment. Methods Clinical data were collected from a boy with DCM. Peripheral blood samples were obtained from the patient, his parents and 200 unrelated healthy human controls. PCR was performed to amplify 21 coding exons and their flanking sequences of the KIT gene followed by DNA sequencing. Results A heterozygous missense mutation （c.1526A > T）, which leads to the mutation p.Lys509Ile, was detected in the KIT gene of the patient, but not in his parents or the healthy controls. Conclusion The heterozygous missense mutation p.Lys509Ile in the KIT gene may be a cause of DCM.

Key words: Mastocytosis, cutaneous, KIT gene, DNA mutational analysis