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 (6): 496-498.doi: 10.3969/j.issn.1674-3865.2010.06.007

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论著RELN基因单核苷酸多态性与儿童孤独症的关联分析

孙颖，盛昭明，姜志梅，王景涛，王海燕，祝丽玲   

  1. 154002 黑龙江 佳木斯，佳木斯大学附属第三医院小儿神经科（孙颖，姜志梅）；154007 黑龙江 佳木斯，佳木斯大学研究生处（王景涛），公共卫生系（祝丽玲）；154007 黑龙江 佳木斯，佳木斯大学附属第一医院儿科（王海燕）；158300 黑龙江 牡丹江，黑龙江省农垦总局牡丹江分局中心医院康复科（盛昭明）
  • 收稿日期:2010-09-22 出版日期:2010-12-25 上线日期:2010-12-25
  • 通讯作者: 姜志梅
  • 作者简介:孙颖（1977-），女，医学硕士，主治医师。研究方向：小儿脑损伤的发病机制及早期防治研究。

Investigate into the relationship between RELN gene single nucleotide polymorphism and childhood autism

SUN Ying，SHENG Zhao ming，JIANG Zhi mei   

  1. Division of Pediatric Neurology，the Third Affiliated Hospital of Jiamusi University，Jiamusi 154003，China
  • Received:2010-09-22 Published:2010-12-25 Online:2010-12-25

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摘要： 目的：探讨汉族人群RELN基因单核苷酸多态性与儿童孤独症的关系。方法：应用聚合酶链式反应和限制性片段长度多态性方法，测定孤独症患儿及正常儿童各30例的基因型和等位基因频率。结果：（1）两组exon 6 SNP基因型及等位基因频率差异均有统计学意义(P＜0.05);（2）两组exon 50 SNP基因型及等位基因频率差异均无统计学意义(P>0.05)。结论：（1）exon 6 SNP与儿童孤独症相关；（2）exon 50 SNP与儿童孤独症无关。

关键词: 孤独症, RELN基因, 单核甘酸多态性, 心理治疗, 儿童心理学

Abstract: Objective：To investigate the relationship between RELN gene single nucleotide 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(exon 6)of RELN in 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 January,2006 to December,2007.Results：(1)There was a significant difference in the distribution of the allelic frequencies and genotype in exon 6 between the two groups(P＜0.05).(2)There was no significant difference in the distribution of the allelic frequencies and genotype in Exon 50 between the two groups(P>0.05).Conclusions：(1)There is an association between the SNP(exon 6) of RELN and childhood autism.(2)There is no association between the SNP(Exon 50)of RELN and childhood autism.

Key words: autism, gene RELN, single nucleotide polymorphism(SNP)；psychology therapy；child psychology