斑块型汗孔角化症一家系MVK基因突变检测

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。

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

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.