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 ›› 2010, Vol. 2 ›› Issue (1): 12-14.doi: 10.3969/j.issn.1674-3865.2010.01.005

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催产素受体基因与儿童孤独症关系的初步研究

姜志梅,张丽华,吕智海,郭岚敏
  

  1. 154003 黑龙江 佳木斯,佳木斯大学附属第三医院发育与行为儿科，佳木斯大学儿童神经康复实验室(姜志梅,吕智海,郭岚敏);100144 北京,北京康复中心(张丽华)
  • 收稿日期:2009-12-04 出版日期:2010-02-25 上线日期:2010-02-25
  • 通讯作者: 姜志梅，E-mail：mynard93@yahoo.com.cn
  • 作者简介:姜志梅(1966-)，女，教授、主任医师，硕士研究生导师。研究方向：儿童发育行为障碍研究，E-mail：mynard93@yahoo.com.cn。

Preliminary investigation of relationship between oxytocin receptor gene and childhood autism

JIANG Zhi mei,ZHANG Li hua,LV Zhi hai   

  1. Department of Development and Behavior Pediatrics,The 3rd Affiliated Hospital of Jiamusi University，The Laboratory of Child Neurological Rehabilitation of Jiamusi University,Jiamusi 154003,China
  • Received:2009-12-04 Published:2010-02-25 Online:2010-02-25

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摘要： 目的：探讨佳木斯地区人群催产素受体（oxytocin receptor，OXTR）基因多态性与儿童孤独症的关系。方法：应用聚合酶链反应与限制性片断长度多态性分析方法，对30例孤独症儿童和30例正常儿童进行OXTR单核苷酸多态性片断rs2254298的等位基因和基因型测定。结果：OXTR单核苷酸多态性片断rs2254298的基因型分布频率符合Hardy-Weinberg定律（P＞0.05），并且孤独症组和正常对照组在上述各位点等位基因频率和基因型分布差异有统计学意义（P＜0.05）。结论：OXTR单核苷酸多态性片断rs2254298与儿童孤独症的发病有关。

关键词: 孤独症;发育障碍;受体, 催产素；儿童

Abstract: Objective：To investigate the relationship between oxytocin receptor（OXTR）gene polymorphism and childhood autism in Han population in Jiamusi.Methods：Polymerase chain reaction-restricted fragment length polymorphism(PCR-RFLP) was used to determine allele and genotype of SNP(rs2254298) of OXTR in 30 Chinese Han autism children staying in the 3rd Affiliated Hospital of Jiamusi University and 30 normal children in a kindergarten and an elementary school in Jiamusi from May to December,2007.Results：The genotype distribution of the SNP(rs2254298) in patient group and control group was consistent with the Hardy-Weinberg equilibrium(P>0.05).There was significant difference in the distribution of the allelic frequencie and genotype in rs2254298 between the two groups(P＜0.05).Conclusions：There is an association between the SNP(rs2254298) of OXTR and childhood autism.

Key words: Autism;Developmental disorders;Receptor, oxytocin;Child