ISSN 1674-3865  CN 21-1569/R
主管：国家卫生健康委员会
主办：中国医师协会
　　　辽宁省基础医学研究所
　　　辽宁中医药大学附属医院
中国中西医结合儿科学

中国中西医结合儿科学 ›› 2019, Vol. 11 ›› Issue (2): 161-163.doi: 10.3969/j.issn.1674-3865.2019.02.019

• 临床研究 • 上一篇    下一篇

孤独症谱系障碍患儿相关候选基因研究

许晶莉，范艳萍，高晶   

  1. 518172 广东 深圳，深圳市龙岗区妇幼保健院儿童保健科(许晶莉)；154002 黑龙江 佳木斯，佳木斯大学附属康复医学院物理治疗科(范艳萍)；223001 江苏 淮安，淮安市妇幼保健院儿童康复科(高晶)
  • 出版日期:2019-04-25 发布日期:2019-05-08
  • 通讯作者: 高晶，E-mail:2860921812@qq.com
  • 作者简介:许晶莉(1977-)，女，医学博士，主治医师。研究方向：脑性瘫痪的临床康复

Research of the candidate genes associated with autistic spectrum disorder in children

XU Jingli，FAN Yanping，GAO Jing   

  1. Shenzhen Longgang District Maternal and Child Health Care Hospital，Shenzhen 518172，China
  • Online:2019-04-25 Published:2019-05-08

PDF (PC)

96

摘要：
目的
探讨孤独症谱系障碍(ASD)患儿与正常儿童基因表达的差异。
方法
选择2017年6月至2018年6月在深圳市龙岗区妇幼保健院儿童保健科进行康复的ASD患儿30例为观察组，同期选择健康体检儿童20例作为对照组。收集全体受试儿童的血液标本，提取DNA进行微阵列技术检测，采用拷贝数分析算法进行信号分析。
结果
对全部受试儿童的3个SNP位点(re2711888、rs6967728、rs756505)进行基因谱比较。结果发现，观察组与对照组比较，基因表达谱差异无统计学意义(P>0.05)。
结论
ASD患儿的3个候选基因表达无显著异常。

关键词: 孤独症谱系障碍, 基因芯片, 拷贝数分析, 儿童

Abstract:


Objective
To explore the difference of gene expression between autistic and normal children.
Methods
Totally 30 autistic children in Shenzhen Longgang District Maternal and Child Health Care Hospital from June 2017 to June 2018 were included as the observation group and 20 healthy children as the control group. The blood samples of all subjects were collected and DNA extractions were examined with DNA microarray. The signals were analyzed with copy number.
Results
The gene spectrum of 3 SNP locations（re2711888，rs6967728，rs756505） were compared. The results showed that there was no statistical difference in gene expression spectrum between autistic and normal children（P>0.05）.
Conclusion
There is no notable difference in the expression of 3 candidate genes in autistic children.

Key words: Autism spectrum disorder, DNA microarray, Copy number analysis, Children