儿童自闭症金属硫蛋白-2A基因表达及其蛋白分析  

Analysis of metallothionein-2A gene expression and protein in autistic children

作　　者：余丹[1] 曹涛[1] 黄伏生[1] 

机构地区：[1]武汉大学中南医院基因诊断中心,430071

出　　处：《中华临床医师杂志（电子版）》2016年第9期1-3,共3页Chinese Journal of Clinicians(Electronic Edition)

基　　金：国家自然科学基金(81171669)

摘　　要：目的观察自闭症儿童与正常对照儿童外周血金属硫蛋白-2A的含量变化及其基因表达,探讨其与自闭症病因相关性。方法采用酶联免疫吸附试验(ELISA)方法检测45例自闭症儿童和43例对照儿童血浆中金属硫蛋白-2A的含量。同时采用实时荧光定量PCR(q PCR)检测金属硫蛋白-2A的mRNA在自闭症儿童白细胞中的相对表达量。实验结果采用t检验进行统计分析。结果自闭症儿童金属硫蛋白-2A mRNA相对表达量为3.2±2.2,对照组为4.5±2.9,病例组表达量低于对照组(P=0.028)。ELISA检测结果病例组金属硫蛋白-2A含量为(997.1±570.3)ng/μl,对照组为(954.4±410.4)ng/μl,未发现统计学差异(P=0.693)。结论自闭症患者白细胞中金属硫蛋白-2A mRNA表达量下降,为探索自闭症的病因及诊断提供新思路。Objective This study aimed to assess the relationships between metallothionein-2A（MT2A） expression in peripheral blood and plasma protein with autistic children. Methods This study involved 45 autism children and 43 normal children. The plasma MT2A protein levels and relative expression of MT2A in peripheral blood cells were measured by enzyme linked immunosorbent assay（ELISA） and quantitative real-time PCR（q PCR）, respectively. The experimental results were analyzed by t-test. Results Relative expression of MT2A mRNA in cases and controls was 3.2±2.2 and 4.5±2.9 respectively, with a significant difference between them（P=0.028）. While MT2A protein levels were（997.1±570.3）ng/μl in cases and（954.4±410.4）ng/μl in controls, with no difference（P=0.693）. Conclusion Expression of human peripheral blood cells MT2A in children with autism decreased, which provides a new idea for the diagnosis and etiology of autism.

关 键 词：自闭症 金属硫蛋白 酶联免疫吸附测定 实时荧光定量PCR 

分 类 号：R749.94[医药卫生—神经病学与精神病学]