泛发性肥大细胞增多症一例及KIT基因突变研究  

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

作　　者：杜斌[1] 汪慧君[2] 林志淼[2] 

机构地区：[1]大庆油田总医院皮肤科,黑龙江163001 [2]北京大学第一医院皮肤科

出　　处：《中华皮肤科杂志》2014年第9期669-670,共2页Chinese Journal of Dermatology

基　　金：国家自然科学基金（81201220）

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.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.

关 键 词：肥大细胞增生症 皮肤 KIT DNA突变分析 

分 类 号：R725.5[医药卫生—儿科]