汗孔角化症三例散发患者基因突变分析

Gene mutation analysis of three cases with porokeratosis

目的:检测3例散发汗孔角化症患者的致病基因突变。方法:提取3例患者外周血进行基因组DNA提取,通过高通量测序检测患者的突变基因,再用Sanger测序验证。结果:3例汗孔角化症均存在MVD基因突变,患者1检测到c.875A>G(p.Asn292Ser)突变,患者2、3检测到(c.746 T>C)(p.Phe249Ser)突变。结论:本研究再次验证MVD基因为汗孔角化症常见突变。

Objective:To detect pathogenic gene mutations in three patients with porokeratosis.Methods:Genomic DNA was extracted from the peripheral blood of 3 patients with porokeratosis,and the mutant genes of the patients were detected by high-throughput sequencing,which was then verified by Sanger sequencing.Results:MVD gene mutation was found in all three cases of porokeratosis,including c.875A>G(p.Asn292Ser)in one patient and(c.746 T>C)(p.Phe249Ser)in 2 patients.Conclusion:This study reconfirmed that MVD gene is a common mutation of porokeratosis.