摘要
目的:检测12例中国汉族播散性浅表性光化性汗孔角化症(DSAP)患者MVK基因突变位点。方法:对中国汉族6个家系和6个散发DSAP患者及100名无亲缘关系的健康对照血样,提取外周血DNA,PCR扩增样本MVK基因的全部外显子及其侧翼序列,Sanger测序法对PCR扩增产物进行测序。结果:在2个家系和1例散发患者中分别检测到c.566C>T,c.722G>T和c.207_208delAC突变位点。结论:MVK基因与DSAP的发病有关。
Objective：To identify mutations of MVK gene in twelve patients with disseminated superficial actinic porokeratosis.Methods：Genomic DNA was extracted from the peripheral blood of six DSAP families,six sporadic cases and 100 healthy controls.All the exons of MVK gene and their flanking intronic sequences were amplified by PCR,Direct sequencing was performed to screen the mutations in the gene.Results：Two missense mutations （c.566C＞T and c.722G＞T） and one frameshift mutation （c.207_208delAC） were identified in two families and one sporadic case respectively.None of these mutations were found in 100 controls.Conclusion：MVK is associated with the onset of DSAP.
出处
《中国麻风皮肤病杂志》
2015年第2期77-81,共5页
China Journal of Leprosy and Skin Diseases
作者简介
通讯作者
