中国麻风皮肤病杂志 ›› 2023, Vol. 39 ›› Issue (12): 864-867.doi: 10.12144/zgmfskin202312864

• 论著 • 上一篇    下一篇

汗孔角化症三例散发患者基因突变分析

侴梦微,郝阳阳,连炜炜,陈茜,杨建强   

  1. 湖州市第一人民医院皮肤科，浙江湖州，313000
  • 出版日期:2023-12-15 发布日期:2023-11-21

Gene mutation analysis of three cases with porokeratosis

CHOU Mengwei, HAO Yangyang, LIAN Weiwei, CHEN Xi, YANG Jianqiang   

  1. Department of Dermatology,the First People's Hospital of Huzhou, Huzhou 313000,China
  • Online:2023-12-15 Published:2023-11-21

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摘要： 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。

关键词: 汗孔角化症, 基因突变, MVD基因

Abstract: 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.

Key words: porokeratosis, gene mutation, MVD gene