《中国康复理论与实践》

《中国康复理论与实践》 ›› 2011, Vol. 17 ›› Issue (5): 411-414.

• 论文 • 上一篇    下一篇

RELN基因单核甘酸多态性与儿童孤独症临床特征的相关分析

孙颖1，盛昭明2，刘明远3，杨利敏3，李兴洲3，姜志梅1   

  1. 1.佳木斯大学附属第三医院，黑龙江佳木斯市 154003；2.黑龙江省农垦总局牡丹江分局中心医院康复科，黑龙江牡丹江市 158300；3.佳木斯大学基础医学院，黑龙江佳木斯市 154007。
  • 收稿日期:2011-01-12 修回日期:2011-04-11 出版日期:2011-05-25 发布日期:2011-05-25
  • 通讯作者: 姜志梅

RELN Gene Single Nucleotide Polymorphism Related with Clinical Features of Autism

SUN Ying, SHENG Zhao-ming, LIU Ming-yuan,et al.   

  1. The Third Affiliated Hospital of Jiamusi University, Jiamusi 154003, Heilongjiang, China
  • Received:2011-01-12 Revised:2011-04-11 Published:2011-05-25 Online:2011-05-25

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摘要： 目的探讨RELN基因exon 6 SNP 基因型与儿童孤独症临床特征的相关性。方法应用限制性片段长度多态性聚合酶链式反应(PCR-RFLP)测定30 例孤独症患儿及30 例正常儿童的基因型和等位基因频率。采用孤独症行为检查表(ABC)对患儿行为进行评定。结果孤独症组与对照组exon 6 SNP 基因型和等位基因频率存在显著性差异(P<0.05)；基因型为A/A和A/G之间、A/A和G/G 之间的孤独症儿童交往因子存在显著性差异(P<0.05)，基因型为A/G 和G/G 的孤独症儿童ABC 总分存在显著性差异(P<0.05)。结论exon 6 SNP 与儿童孤独症相关，携带基因型G/G、A/G的患儿比携带基因型A/A的患儿有更严重的人际交往障碍。

关键词: 儿童, 孤独症, RELN基因, 单核苷酸多态性, 孤独症行为检查表

Abstract: Objective To investigate the relationship between RELN gene single nucleotide polymorphism (SNP) and childhood autism in Jiamusi, Heilongjiang. Methods Polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) was used to determine allele and genotype of SNP (exon 6) of RELN in 30 children with autism and 30 normal children. Autism Behavior Checklist (ABC) was used to evaluate the children. Results There was a significant difference in the distribution of the allelic frequencies and genotype in exon 6 between these groups (P<0.05). There was a significant difference in the communication factors between patients with genotype of A/A and A/G or A/A and G/G (P<0.05), as well as in the total scores of ABC between A/G and G/G (P<0.05). Conclusion The SNP of RELN (exon 6) associated with the childhood autism. There is a more serious communication disorder in children with genotype of G/G, A/G than that of A/A.

Key words: child, autism, gene RELN, single nucleotide polymorphism (SNP), Autism Behavior Checklist