中国麻风皮肤病杂志 ›› 2017, Vol. 33 ›› Issue (2): 70-73.

• 论著 • 上一篇    下一篇

II型先天性厚甲症一家系KRT基因突变检测

曹静, 孙乐乐, 付希安, 王真真, 于功奇, 刘红, 张福仁   

  1. 1山东大学附属省皮肤病医院，山东大学，山东济南，250022 2山东省皮肤病性病防治研究所，山东省医学科学院，山东济南，250022
  • 出版日期:2017-02-15 发布日期:2018-12-13
  • 通讯作者: 张福仁,E-mail: zhangfuren@hotmail.com

Detection of KTR gene mutations in a family with pachyonychia congenital type II

CAO Jing1, SUN Lele2, FU Xian2, WANG Zhenzhen2, YU Gongqi2, LIU Hong2, ZHANG Furen1,2.   

  1. 1. Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan 250022, China; 2. Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan 250022, China
  • Online:2017-02-15 Published:2018-12-13
  • Contact: ZHANG Furen, E-mail: zhangfuren@hotmail.com

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摘要： 目的：检测先天性厚甲症一家系中KRT6b和KRT17基因突变位点。方法：提取先证者、其父母（母亲为患者，父亲正常人）及100名正常对照者外周静脉血DNA，PCR技术扩增KRT6b 和KRT17基因编码序列，Sanger测序法对PCR扩增产物进行测序。结果：先症者及其母亲在KRT17基因1号外显子上存在错义突变(c.275A>G)，KRT6b基因不存在任何突变。先证者父亲及100名正常对照者中未检测到任何突变。结论：此家系患者是由于KRT17基因突变(c.275A>G，p.Asn92Ser)所致。

关键词: 先天性厚甲症, 基因突变, KRT基因

Abstract: Objective: To identify the mutations of KRT6b and KRT17 genes in a pedigree with pachyonychia congenita. Methods: Genomic DNA was extracted from peripheral blood of propositus, the parents and 100 healthy controls. The mother was a patient and his father was normal. All the exons of KRT6b and KRT17 genes were amplified by PCR, and the products were purified and directly sequenced to detect mutations. Results: A missense mutation of KRT17 gene (c.275A>G) was identified in propositus and the mother, which was not found in the father and controls. No mutation of KRT6b was found in this family members and controls. Conclusion: A heterozygous missense mutation in KRT17 (c.275A>G, p.Asn92Ser) is the cause of the disease in the family.

Key words: pachyonychia congenita, gene mutation, KTR gene