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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(P<0.05);(2)两组exon50SNP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)exon6SNP与儿童孤独症相关;(2)exon50SNP与儿童孤独症无关。
Objective To investigate the relationship between single nucleotide polymorphism (SNP) of RELN gene and autism in children in Han nationality. Methods Polymerase chain reaction (PCR) and restriction fragment length polymorphism (PCR) were used to determine the genotype and allele frequencies in 30 children with autism and normal children respectively. Results (1) There was significant difference in the genotype and allele frequencies of exon6SNP between the two groups (P <0.05). (2) There was no significant difference in the genotype and allele frequencies of exon50SNP between the two groups (P> 0.05) . Conclusion (1) exon6SNP is associated with autism in children; (2) exon50SNP is unrelated to children with autism.