中国麻风皮肤病杂志 ›› 2022, Vol. 38 ›› Issue (7): 425-429.doi: 10.12144/zgmfskin202207425

• 论著 • 上一篇    下一篇

外显子测序联合体细胞突变检测发现汗孔角化症八个突变位点

魏腾超,王真真,孙乐乐,付希安,陈声利,王建文,张福仁,刘红   

  1. 山东第一医科大学附属皮肤病医院(山东省皮肤病医院)，山东省皮肤病性病防治研究所，山东济南，250022
  • 出版日期:2022-07-15 发布日期:2022-05-17

Exon sequencing combined with somatic mutations detection identified 8 mutations in patients with prokeratosis

WEI Tengchao, WANG Zhenzhen, SUN Lele, FU Xi'an, CHEN Shengli, WANG Jianwen, ZHANG Furen, LIU Hong   

  1. Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan 250022, China
  • Online:2022-07-15 Published:2022-05-17

PDF (PC)

216

摘要： 目的：外显子测序联合体细胞突变检测发现新的汗孔角化症致病基因突变。方法：收集前期实验在已知基因上通过目标区域测序未发现突变的29例汗孔角化症患者的外周血DNA进行全外显子测序，并提取体细胞DNA进行Sanger测序。结果：通过全外显子测序，在3例患者外周血DNA中检出剪切位点突变 ，包含1个MVK基因上的新突变位点。通过Sanger测序在5例患者的体细胞DNA中检出突变。结论：本研究发现了 3个剪切位点突变，其中1个为新发突变，发现了5例单纯体细胞突变，丰富了汗孔角化症基因突变谱和突变形式，未发现新的突变基因。

关键词: 汗孔角化症, 体细胞突变, 剪接位点突变

Abstract: Objective: To discover novel gene mutation responsible for porokeratosis by exon sequencing combined with somatic mutation detection. Methods: Peripheral blood DNA was collected for whole exon sequencing from 29 patients with porokeratosis who had failed to identify mutations by target region sequencing on known genes, and DNA was extracted from somatic cells for Sanger sequencing. Results: Splice region mutations were detected in the peripheral blood DNA of three patients by whole-exome sequencing, including one novel identified mutation on the MVK gene. Mutations were detected in the somatic DNA of 5 patients by Sanger sequencing. Conclusion: In this study, three splice site mutations were identified, including a novel mutation, and five cases of simple somatic mutations were found, enriching the mutation spectrum and mutation forms of porokeratosis genes, and there was no novel mutated genes identified.

Key words: porokeratosis, somatic mutations, splice region mutations