特应性皮炎丝聚合蛋白基因突变的检测

目的探讨丝聚合蛋白（Filaggrin，FLG）基因的突变与特应性皮炎（Atopicdermatitis，AD）的相关性。方法提取50例汉族AD患者及100例健康对照者的基因组DNA，利用SequenomMassArray质谱阵列技术分析FLG基因（3321delA，441delA，1249insG，E1795X和S3296X）五个突变位点。结果14例（28％）AD患者发现FLG基因332ldelA突变，对照组有4例（4％）发生该基因突变。6例（12％）AD患者发现FLG基因441delA突变，对照组有0例（O％）发生该基因突变。患者组及对照组均未见FLG基因1249insG，E1795X和S3296X突变。结论FLG基因突变可能与AD易感性相关。

Detection of filaggrin mutations in patients with atopic dermatitis

Aim To study the genetics of filaggrin （FLG） mutations in patients with atopic dermatitis patients of Chinese Han population. Methods DNA was extracted and 5 mutation sites （3321delA,441delA,1249insG,E1795X and S3296X） of filaggrin in a cohort of 50 atopic dermatitis patients and 100 control individuals were investigated using the Sequenom MassARRAY system. Results The filaggrin mutation sites of 3321delA was observed in 14 atopic dermatitis patients and 4 healthy controls. The mutation at 441delA was observed in 6 atopic dermatitis patients and no mutation at site 441delA was observed in healthy controls. The mutations at sites of 1249insG,E1795X and S3296X were not observed in both groups. Conclusions These findings show that the FIG mutation could be related with AD susceptibility in Chinese Han population.