毛囊角化病患者ATP2A2基因新剪切位点突变的检测研究  

Analysis on a novel point mutation at donor splice-site of ATP2A2 gene in a Chinese patient with Darier's disease

作　　者：杜旭峰[1] 施和建[1] 顾永[1] 穆会君[2] 胡君[1] 杨树东[3] 张国龙[1] 

机构地区：[1]南京医科大学附属无锡人民医院皮肤科,江苏无锡214023 [2]南京医科大学附属无锡人民医院中心实验室,江苏无锡214023 [3]南京医科大学附属无锡人民医院病理科,江苏无锡214023

出　　处：《临床皮肤科杂志》2012年第10期583-586,共4页Journal of Clinical Dermatology

基　　金：南京医科大学科技发展基金(2010NJMUZ63)重点资助项目

摘　　要：目的:检测1例严重表型毛囊角化病患者ATP2A2基因的突变。方法:采用聚合酶链反应及直接测序法对该患者进行ATP2A2基因的突变位点检测,运用反转录技术检测突变导致的RNA水平的变化,同时对120名无血缘关系健康者作为对照进行测序验证。结果:通过筛查在患者ATP2A2基因中发现一个新的剪切位点突变IVS18+5G>C,反转录分析证实该突变的发生导致ATP2A2基因转录后在其突变等位基因的18号和19号外显子之间插入了27个核苷酸。结论:该例毛囊角化病患者的检测结果进一步扩充了ATP2A2基因的突变库,并为阐明ATP2A2基因的突变导致该病发生的分子机制提供了帮助。Objective： To identify the mutation of ATP2A2 gene in a patients with severe Darier＇s disease （Darier＇s disease, DD）. Methods： Mutation scanning was carried out by PCR and direct sequencing. We further performed RNA study to look at the transcripts by RT-PCR. ATP2A2 gene of 120 normal people was also sequenced as control. Results： A new splice site mutation （IVS18＋5G〉C） of the ATP2A2 gene was identified by direct sequencing in our patient. The eDNA analysis re- sult revealed insertion of 27 nueleotides between exon 18 and exon 19 of one allele. Conclusions： A novel splice-site muta- tion in ATP2A2 gene in a patient with severe DD is reported. This is also associated with insertion of 27 nucleotides down- stream from the tip of intron 18 containing this mutation in the cDNA. These results contribute to the expanding database of ATP2A2 mutation and are helpful in elucidating the molecular consequences of ATP2A2 mutation in DD.

关 键 词：毛囊角化病 ATP2A2基因 突变 

分 类 号：R394[医药卫生—医学遗传学]