RELN基因单核苷酸多态性与儿童孤独症的关联分析

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exon6SNP基因型及等位基因频率差异均有统计学意义(P0.05);(2)两组exon50SNP基因型及等位基因频率差异均无统计学意义(P0.05)。结论 (1)exon6SNP与儿童孤独症相关;(2)exon50SNP与儿童孤独症无关。

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

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（P0.05）.（2）There was no significant difference in the distribution of the allelic frequencies and genotype in Exon 50 between the two groups（P0.05）.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.