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目的探讨IMMP2L和DOCK4基因多态性与中国汉族儿童孤独症的关联性。方法收集375个中国汉族人群的孤独症核心家系,所有家系均采集外周血提取基因组DNA,采用SNaPshot基因分型的方法,检测IMMP2L基因rs12537269、rs1528039及DOCK4基因rs2217262位点的等位基因和基因型分布,通过传递不平衡检验(Transmission/disequilibrium test,TDT)分析所研究位点多态性与孤独症的关系。结果 TDT结果显示,rs12537269和rs1528039位点在杂合子父母的2个不同等位基因之间无优势传递(P>0.05),而rs2217262位点杂合子父母过多的传递A给患儿(χ2=5.343,P=0.021),发生传递不平衡。结论 DOCK4基因与中国汉族儿童孤独症存在关联性。
Objective To investigate the association between IMMP2L and DOCK4 gene polymorphisms and autism in Chinese Han children. Methods Genomic DNA was extracted from 375 Chinese Han population of autism. All the pedigrees were collected genomic DNA from peripheral blood. The alleles and genotypes of rs12537269, rs1528039 and rs2217262 of IMMP2L gene were detected by SNaPshot genotyping Distribution, through the transmission of disequilibrium test (TDT) analysis of the relationship between the study site polymorphism and autism. Results The results of TDT showed that rs12537269 and rs1528039 had no dominant transmission between two different alleles of heterozygous parents (P> 0.05), while those with rs2217262 heterozygous passed A more to children (χ2 = 5.343, P = 0.021), transmission imbalance occurred. Conclusion There is a correlation between DOCK4 gene and autism in Chinese Han children.