孤独症谱系障碍儿童外周血长链非编码RNA表达的研究  

Study on differential expression of long non-coding RNA in peripheral blood of children with autism spectrum disorder

作　　者：韦念堇 方彧聃[2] 姜莲 郑小斐[1] 何琳[1] 马晨欢 王瑜[1] WEI Nian-jin;FANG Yu-dan;JIANG Lian;ZHENG Xiao-fei;HE Lin;MA Chen-huan;WANG Yu(Department of Children Health Care,Shanghai Children′s Hospital,Shanghai Jiao Tong University,Shanghai 200040,China;Institute of Medical Genetics,Shanghai Children′s Hospital,Shanghai Jiao Tong University,Shanghai 200040,China)

机构地区：[1]上海交通大学附属儿童医院上海市儿童医院儿童保健发育行为科,上海200040 [2]上海交通大学附属儿童医院上海市儿童医院医学遗传研究所,上海200040

出　　处：《中国儿童保健杂志》2020年第3期256-260,共5页Chinese Journal of Child Health Care

基　　金：上海市科委医学引导类项目(16411970100);上海市残联康复科研项目(K2018007)。

摘　　要：目的观察孤独症谱系障碍(ASD)患儿外周血LncRNA表达特征,为进一步研究ASD早期预警的分子标志物提供理论依据。方法2018年1-9月在上海市儿童医院招募ASD患儿和正常对照儿童各40例,采集其外周血RNA样本,应用LncRNA Array v2.0芯片分析ASD患儿和正常对照儿童全基因组LncRNA表达的差异,应用qRT-PCR对神经发育相关的LncRNAs和mRNA的表达进行定量分析。结果LncRNA Array v2.0芯片结果显示,ASD患儿外周血样本有3655个LncRNAs存在表达差异,其中2238个表达上调,1417个表达降低。采用qRT-PCR对神经发育相关的13个LncRNAs进行定量分析,结果显示ASD组有10个LncRNAs表达上调,其中4个与HOX基因相关;3个LncRNAs表达降低,其中1个与HOX基因相关;与表达谱芯片结果一致。ASD组外周血HOX基因编码的mRNA表达均较对照组降低。结论ASD患儿外周血神经发育相关基因的LncRNAs存在差异性表达,HOX基因相关的LncRNAs有可能成为ASD早期筛查的生物学标记物。Objective To investigate the expression of LncRNA in peripheral blood of children with autism spectrum disorder(ASD),So as to provide theoretical basics for further study on early biomarkers of ASD.Methods Totally 40 ASD and normal control children were recuited from Shanghai Children′s Hospital from January to September 2018,and their peripheral blood samples were collected.The difference expression of whole-genome LncRNA between children with ASD and neurotypical controls was analyzed by the LncRNA Array v2.0 chip.The expression of LncRNA and mRNA related to neurodevelopment was quantitatively analyzed by qRT-PCR.Results A total of 3655 LncRNA differential expression in ASD peripheral blood specimens were found according to the LncRNA Array v2.0 chip display,of which 2238 LncRNA were upregulated,and 1417 were downregulated.Quantitative analysis on 13 LncRNAs related to neurodevelopment by qRT-PCR showed that 10 LncRNAs were upregulated in ASD group,of which 4 LncRNAs were related to HOX gene and 3 LncRNAs were downregulated,1 LncRNAwas related to HOX gene.These results were in accordance with the study of array chip.The express of HOX gene in peripheral blood of ASD group was lower that of control group.Conclusions There are significant differences on LncRNA expression related to neurodevelopment in peripheral blood of ASD group.The differential expression of LncRNA related to HOX gene are potential biomarkers for early screen and diagnosis of ASD.

关 键 词：孤独症谱系障碍 长链非编码RNA 同源盒基因 

分 类 号：R749.94[医药卫生—神经病学与精神病学]