中华皮肤科杂志
中華皮膚科雜誌
중화피부과잡지
Chinese Journal of Dermatology
2014年
9期
669-670
,共2页
肥大细胞增生症,皮肤%KIT%DNA突变分析
肥大細胞增生癥,皮膚%KIT%DNA突變分析
비대세포증생증,피부%KIT%DNA돌변분석
Mastocytosis,cutaneous%KIT gene%DNA mutational analysis
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.
目的 檢測1例汎髮性肥大細胞增多癥患者KIT基因突變情況,為患者提供預後判斷及治療選擇.方法 收集患者臨床資料,提取患者,其父母以及200例健康人外週血DNA,採用PCR擴增KIT基因編碼區的全部外顯子及其側翼序列併測序.結果 基因檢測髮現患者外週血DNA中的KIT基因髮生c.1526A＞T雜閤突變,導緻氨基痠齣現p.Lys509Ile改變,父母及200例健康對照均未見相同突變.結論 KIT基因p.Lys509Ile突變可能為汎髮性肥大細胞增多癥患者病因之一.
목적 검측1례범발성비대세포증다증환자KIT기인돌변정황,위환자제공예후판단급치료선택.방법 수집환자림상자료,제취환자,기부모이급200례건강인외주혈DNA,채용PCR확증KIT기인편마구적전부외현자급기측익서렬병측서.결과 기인검측발현환자외주혈DNA중적KIT기인발생c.1526A＞T잡합돌변,도치안기산출현p.Lys509Ile개변,부모급200례건강대조균미견상동돌변.결론 KIT기인p.Lys509Ile돌변가능위범발성비대세포증다증환자병인지일.
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.
