高分辨率熔解曲线分析对38例孤独症DRD_2基因外显子突变检测  

Mutation screening of exons in DRD_2 gene by using high-resolution melting curve analysis in 38 patients with autism.

作　　者：刘苗[1,2] 陈星[1] 翟静[3] 刘金同[3] 张燕[3] 刘兆云[1,2] 龙逢[2] 杨树林[4] 陈刚[1] 

机构地区：[1]山东省医学科学院基础医学研究所,济南250062 [2]济南大学山东省医学科学院医学与生命科学学院 [3]山东省精神卫生中心 [4]泰山医学院公共卫生学院

出　　处：《精神医学杂志》2014年第1期8-11,共4页Journal of Psychiatry

基　　金：山东省自然科学基金项目(编号:ZR 2010HQ051);山东省科技发展计划项目(编号:2011GSF11821)

摘　　要：目的对孤独症患者DRD2基因全部外显子进行突变筛查。方法构建孤独症患者纳入研究组(38例)和对照组(95例和1 000例)3个DNA混合池,对DRD2基因的9个外显子合成了15对引物,将3个DNA混合池样本分别进行聚合酶链扩增及COLDPCR扩增,用Light Scanner高分辨率熔解曲线分析系统进行两次熔解曲线对比。结果在孤独症患者DRD2基因外显子未发现突变。结论孤独症的病因并非源于DRD2基因外显子的突变。Objective To screen the exons in DRD2 gene in autistic patients to find the mutations. Methods 3 DNA pools were constructed in 38 cases with autism, 95 healthy controls and 1000 healthy controls. 15 pairs of primer were synthesized for 9 exons in DRD2 gene. DAN in 3 pools was amplified with polymerase chain reaction （PCR） and Cold-PCR. Mutation detection was performed by using Light Scanner high-resolution melting curve （HRM） analysis system to compare the melting curve between autistic patients and healthy controls. Result No mutation was found in all the 9 exons of DRD2 gene in autistic patients. Conclusion Mutations on exons of DRD~ gene is not involved in the etiology of autism.

关 键 词：孤独症 DRD2 基因 突变 低变性温度下的复合PCR 高分辨率熔解曲线分析 

分 类 号：R749.94[医药卫生—神经病学与精神病学]