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

RELN Gene Single Nucleotide Polymorphism Related with Clinical Features of Autism

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。

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（P0.05）.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（P0.05）,as well as in the total scores of ABC between A/G and G/G（P0.05）.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.