【摘要】 目的探讨Reelin基因单核苷酸多态性与汉族儿童孤独症的关系。方法收集232例汉族孤独症患者和283名汉族正常对照,其中有165个孤独症核心家系(患者及其父母),采用实时荧光定量聚合酶链反应方法检测Reelin基因上4个单核苷酸多态位点(rs736707、rs2229864、rs362691、rs2073559),进行病例-对照关联分析及以核心家系为基础的传递不平衡检验(TDT)。结果患者组和对照组之间Reelin基因的4个多态位点的等位基因及基因型频率的差异均无统计学意义(P>0.05),rs736707-rs2229864位点的TC单体型频率在两组间的差异有统计学意义(2=4.31,P=0.04),但经置换检验校正后差异无统计学意义(P=0.19);TDT分析未发现在亲代和子代间4个多态位点的等位基因及单体型的显著不平衡传递(P>0.05)。结论本研究未发现Reelin基因与汉族儿童孤独症存在关联。更多还原

【Abstract】 Objective To explore the relationship between the single nucleotide polymorphisms(SNPs) of reelin gene and autism in a Han Chinese population.Methods Two hundred thirty-two autistic individuals and 283 healthy controls including 165 complete trios(one affected offspring and two healthy parents) were recruited.Four SNPs in reelin gene(rs736707,rs2229864,rs362691 and rs2073559) were genotyped using realtime polymerase chain reaction.Both case-control association analysis and family-based transmission disequilibrium test(TDT) were carried out to detect the genetic association of those four SNPs with autism.Results There were no significant differences in allelic and haplotypic frequency between autistic individuals and controls(P>0.05).Case-control analysis showed a significant difference in TC haplotypes constructed with rs736707-rs2229864(x~2=4.31,P=0.04),but the significance vanished after permutation test(P=0.19).Family-based association analysis did not reveal any significant transmission disequilibrium of alleles or haplotypes(P>0.05).Conclusions The present study does not detect any association of rs736707,rs2229864,rs362691 and rs2073559 in reelin gene with autism in a Chinese Han population.更多还原