斑块型汗孔角化症一家系MVK基因突变检测

中国麻风皮肤病杂志 ›› 2018, Vol. 34 ›› Issue (8): 478-480.

斑块型汗孔角化症一家系MVK基因突变检测

叶珊珊李莹洁王东霞李卉王再兴

安徽医科大学第一附属医院皮肤性病科，合肥，230000

出版日期:2018-08-15 发布日期:2018-12-12
通讯作者: 王再兴，E-mail : wzx2370@163.com

Mutation detection of MVK gene in a family with porokeratosis of Mibelli

YE Shanshan，LI Yingjie，WANG Dongxia，LI Hui，WANG Zaixing

Department of Dermatology and Venereology, The First Affiliated Hospital of Anhui Medical University，Anhui 230000, China

Online:2018-08-15 Published:2018-12-12
Contact: WANG Zaixing，E-mail：wzx2370@163.com

摘要/Abstract

摘要： 目的：检测1家系7例中国汉族斑块型汗孔角化症（PM）患者MVK基因上的突变位点。方法：收集家系成员7例患者及3名正常成员的临床资料及血液样本，提取外周血DNA，PCR技术扩增MVK全部外显子及其侧翼序列，并采用Sanger测序法对纯化后的PCR产物进行检测。并将检测结果与既往测得676例健康对照的全部外显子进行对比。结果：在7例患者中检测出突变位点（c.604G>A），此突变曾在播散性浅表性光化性汗孔角化症（DSAP）患者中报道。正常家系成员及健康对照中未检测到此突变。结论：本家系中MVK基因突变（c.604 G>A）与PM发病有关，且为DSAP与PM的共同突变位点。

关键词: 汗孔角化症, MVK基因, 基因突变

Abstract: Objective: To detect mutation of MVK gene in a family with porokeratosis of Mibelli（PM）. Methods: The clinical data and blood samples of family members were collected, including 7 patients and 3 normal members. DAN was extracted from blood samples. Polymerase chain reaction and direct sequencing in MVK gene were performed and the result was compared with 676 healthy controls detected before. Results: A missense mutation（c.604G>A）in MVK gene was found in 7 patients with PM and this mutation was reported in DSAP patients. No mutation was found in normal members and healthy controls. Conclusion: MVK gene mutation（c.604G>A）is associated with PM in this family and the mutation was the co-mutation site of PM and DSAP.

Key words: porokeratosis, MVK, gene, mutation

叶珊珊, 李莹洁, 王东霞, 李卉, 王再兴. 斑块型汗孔角化症一家系MVK基因突变检测[J]. 中国麻风皮肤病杂志, 2018, 34(8): 478-480.

YE Shanshan, LI Yingjie, WANG Dongxia, LI Hui, WANG Zaixing. Mutation detection of MVK gene in a family with porokeratosis of Mibelli[J]. China Journal of Leprosy and Skin Diseases, 2018, 34(8): 478-480.

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