催产素受体基因与儿童孤独症关系的初步研究

Preliminary investigation of relationship between oxytocin receptor gene and childhood autism

目的探讨佳木斯地区人群催产素受体(oxytocin receptor,OXTR)基因多态性与儿童孤独症的关系。方法应用聚合酶链反应与限制性片断长度多态性分析方法,对30例孤独症儿童和30例正常儿童进行OXTR单核苷酸多态性片断rs2254298的等位基因和基因型测定。结果OXTR单核苷酸多态性片断rs2254298的基因型分布频率符合Hardy-Weinberg定律(P>0.05),并且孤独症组和正常对照组在上述各位点等位基因频率和基因型分布差异有统计学意义(P<0.05)。结论OXTR单核苷酸多态性片断rs2254298与儿童孤独症的发病有关。

Objective To investigate the relationship between oxytocin receptor（OXTR）gene 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（rs2254298） of OXTR in 30 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 May to December, 2007. Resuits The genotype distribution of the SNP（rs2254298） in patient group and control, group was consistent with the Hardy-Weinberg equilibrium（P〉0.05）. There was significant difference in the distribution of the allelic frequencie and genotype in rs2254298 between the two groups（P〈0.05）. Conclusions There is an association between the SNP（rs2254298） of OXTR and childhood autism.