寻常型鱼鳞病一家系Filaggrin基因突变分析

Identification of filaggrin gene mutations in a family with ichthyosis vulgaris

目的对寻常型鱼鳞病(ichthyosis vulgaris,IV)一家系中间丝聚合蛋白(Filaggrin,FLG)基因中可能出现的突变进行检测。方法提取IV家系成员和100份无亲缘关系正常人外周血基因组DNA,采用聚合酶链反应法(PCR)及直接测序法,对FLG基因已报道的13个突变位点(3321delA、1249insG、441delA、S3296X、E1795X、R501X、R2447X、2282del4、S2889X、3702delG、7945delA、R4307X、Q2417X)进行测序。结果 2代4位成员中2例IV患者同时检测到FLG(3321delA)基因突变。家系中正常人及无亲缘关系对照均未发现突变。结论家系中存在FLG(3321delA)基因突变,导致编码蛋白的结构和功能发生改变。

Objective To detect possible filaggrin（FLG） gene mutations in a family with ichthyosis vulgaris（IV）.Methods Genomic DNA was extracted from the peripheral blood of a family with IV,and 100 normal non-kinship people as the control group.13 FLG mutation points（3321delA,1249insG,441delA,S3296X,E1795X,R501X,R2447X,2282del4,S2889X,3702delG,7945delA,R4307X,2417X） were detected by PCR and DNA sequencing.Results FLG mutation（3321delA） was detected in two of the 4 members of the family＇s second generation,not in unaffected members in the family and the control group.Conclusion Our findings suggest that FLG（3321delA） may result in the alteration of the structure and function of the FLG.