中国北方特应性皮炎儿童FLG基因突变检测

Atopic Dermatitis of Children and FLG Gene Mutations in Northern China

目的探讨FLG基因突变与中国北方儿童特应性皮炎（AD）的相关性。方法采用聚合酶链反应—限制性片段长度多态性技术,检测59名年龄为6个月~12岁临床确诊的AD患者和169名健康人中E2422X、S2554X、S2889X、S3296X和R4307X这5个FLG突变位点的突变情况。结果 AD患者和健康对照者均未检测出FLG阳性突变结果。结论 FLG突变和本组AD患者的发病无关。FLG突变可能存在地域和种族人群的差异,但阴性结果也可能和样本量过少有关。

Objective To investigate the relationship between FLG gene mutations and atopic dermatitis of children in northern China.Methods 59 AD patients aged from 6 months to12 years old and 169 non-allergic control subjects in Liaoning were analyzed for the presence of five FLG mutations,E2422X,S2554X,S2889X,S3296X,and R4307X,by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） analysis.Results None of our patients and control subjects carried FLG mutations E2422X,S2554X,S2889X,S3296X,and R4307X.Conclusion These five FLG mutations were not associated with atopic dermatitis of children in northern China in this study.The results may be effected by small sample size.