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