摘要目的 探讨DISC1基因多态性位点在精神分裂症患者和正常人中的差异以及多态性位点与DISC1基因表达水平的关联.方法 选择闽南地区精神分裂症患者和正常人各40例,提取外周血RNA,利用RT-PCR检测DISC1基因的表达;提取外周血DNA后利用特异性引物对不同的多态性位点进行扩增,测序后基因分型.结果 rs6675281位点的基因型均为纯合子CC,没有检测到其他基因型;rs821616位点的基因型包括AA、AT和TT,基因型和等位基因频率在两组中的差异不具有统计学意义(基因型:χ2=0.923,P=0.63;等位基因:A>T,x2=0.656,P=0.418);rs11122319位点的基因型包括AA、AG和GG,基因型和等位基因频率在两组中的差异不具有统计学意义(基因型:x2=3.922,P=0.141;等位基因:A>G,x2=0.184,P=0.668);rs1417584位点的基因型包括AA、AG和GG,基因型和等位基因频率在两组中的差异具有统计学意义(基因型:x2=6.631,P=0.042;等位基因:A>G,x2=4.592,P=0.032),该位点基因型AG所对应的DISC1基因表达量在两组间的差异具有统计学意义(t=3.916,P=0.004).结论 rs1417584位点可能与DISC1基因的表达、调控有关,可能是精神分裂症的一个风险致病因子,而基因型AG的致病风险可能更高.

abstractsObjective To explore the difference of DISC1 gene polymorphism between schizophrenia patients and normal subjects,as well as the association of gene polymorphism with mRNA expression.methods 40 schizophrenia patients and 40 normal subjects were recruited randomly from southern region of Fujian,China.DISC1 mRNA level was assessed by RT-PCR and the genotype was evaluated by sequencing with the amplified PCR products from peripheral blood DNA.Result srs6675281 locus only found CC type,other types were not found.According to the genotyping Result ,the rs821616 locus has AA,AT and TT three types,but the genotype and allele frequency between the two groups were not significantly different (Genotype:x2=0.923,P=0.63;Allele:A>T,x2=0.656,P=0.418).As far as rs11122319 locus,AA,AG and GG three types were found in this study,there was no significant difference between patients and normal controls (Genotype:x2=3.922,P=0.141;Allele:A>G,x2=0.184,P=0.668).Subjects were divided into AA,AG,GG three types based on rs1417584 locus genotyping,however the genotypes and alleles of this locus between the two groups were significant difference (Genotype:x2=6.631,P=0.042;Allele:A>G,x2=4.592,P=0.032),and the DISC1 mRNA expression that corresponding to the genotype AG in patients and normal subjects was significantly different (t=3.916,P=0.004).Conclusion Based on these findings,rs1417584 locus may be implicated the expression and regulation of DISC1 gene,may be a pathogenic factor of schizophrenia and the genotype AG may be corresponding to a higher risk.