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。
Abstract
Objective To investigate the association between single nucleotide polymorphisms (SNPs) of the IMMP2L and DOCK4 genes and childhood autism. Methods A total of 375 Chinese Han autism families (parent-parent-child trios) were recruited for this study.SNPS were genotyped using the SNaPshot method, and then analyzed the allele and genotype of rs12537269 and rs1528039 in IMMP2L gene, as well as rs2217262 in DOCK4 gene.Transmission/disequilibrium test (TDT) analysis was used in all nucleus families. Results TDT did not show significantly biased transmission of two different alleles from parents to affected patients as rs12537269 and rs1528029 (P>0.05), but there was significant transmission disequilibrium(χ2=5.343, P=0.021)for rs2217262 polymorphism.The rate of allele A transmitted from heterozygous parents to offspring was higher than that of transmitted C. Conclusion This study shows a possibility of linkage association between autism and DOCK4 gene polymorphism in Chinese Han population.
关键词
孤独症 /
中国汉族 /
基因多态性 /
传递不平衡
Key words
autism /
Chinese Han population /
gene polymorphisms /
transmission/disequilibrium test
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