播散性浅表性光化性汗孔角化症MVK基因突变检测

Mutation detection of MVK gene with disseminated superficial actinic porokeratosis

目的:检测2个中国汉族播散性浅表性光化性汗孔角化症(DSAP)家系患者MVK基因突变。方法:提取2个DSAP家系及100名无亲缘关系的健康对照外周血DNA,采用PCR扩增患者MVK基因的全部外显子及其侧翼序列,用Sanger测序法对PCR扩增产物直接测序检测基因突变。结果:发现1个新的剪切位点突变(c.1040-2A>C)和1个已报道的错义突变(c.1094T>C)。结论:本研究进一步证实MVK基因突变与DSAP发病相关。

Objective： To detect mutations of MVK gene in 2 familial patients with disseminated superficial actinic porokeratosis（ DSAP）. Methods： Polymerase chain reaction and direct sequencing were performed in the 2 DSAP families and 100 healthy controls to identify the mutations of MVK gene. Results： One novel splicing mutation（ c. 1040- 2A〉 C） and one reported missense mutation（ c. 1094 T〉 C） were identified.Conclusion： This study further confirms that MVK is associated with the onset of DSAP,which contributes further to the understanding of the pathogenesis of DSAP.