毛囊角化病ATP2A2基因突变研究

Identification of novel mutations in the ATP2A2 gene in Chinese patients with Darier's disease

目的检测中国汉族人毛囊角化病ATP2A2基因突变。方法采用聚合酶链反应扩增患者和健康对照个体ATP2A2基因的全部外显子,并进行DNA测序,以100例无亲缘关系的正常人作对照。结果在3例患者中共发现3个突变,包括2个移码突变(1922insG、2900insT)、1个错义突变(1031G→A),其中1031G→A为重复突变。在100例正常对照中均未发现上述突变。结论移码突变(1922insG、2900insT)和错义突变(1031G→A)可影响ATP2A2基因转录和翻译产物,从而引起3例患者的发病。

Objective To identify the mutations of the ATP2A2 gene in Chinese patients with Darier＇s disease （DD）. Methods All 21 exons and the flanking intron boundaries of three Chinese patients were amplified and followed by direct sequencing. Results We identified two novel frameshift mutations （1922insG,2900insT） and a missense mutation（1031G→A） which was reported previously. Conclusion The three mutations （1922insG, 2900insT,1031G→A） in the ATP2A2 gene seem to be the pathologic causes of the three Chinese DD patients.