DTNBP1基因多态性与精神分裂症的关系

目的: 探讨中国北方汉族人群DTNBP1基因多态性与精神分裂症的关系。方法: 采用聚合酶链式反应-限制性内切酶片段长度多态性(PCR-RFLP)方法，对106个精神分裂症核心家系(患者及其健康父母)中DTNBP1基因上rs9476867位点单核苷酸多态性(SNP)进行检测，应用遗传学统计方法对基因分型资料进行单倍型相对风险分析(HRR)和传递不平衡检验(TDT)。结果: rs9476867位点基因型频数分布符合Hardy-Weinberg平衡定律(P>0.05)。HRR分析结果表明，rs9476867位点(G/A碱基互换)等位基因频数在病例组和对照组中分布差异无显著性(χ²=0.706，P>0.05)；TDT分析结果表明，杂合子父母双亲的rs9476867位点等位基因传递概率没有偏离50% (χ²=0.641，P>0.05)。结论: DTNBP1基因上rs9476867位点基因多态性与精神分裂症无关联。

Association between DTNBP1 gene polymorphism and schizophrenia

Objective To investigate the association between single nucleotide polymorphism of DTNBP1 gene and schizophrenia in the Han people of Northern China.Methods The method of PCR-RFLP was conducted to examine the genotypes of DTNBP1 gene in 106 family trios(including patients and their parents),and then the genotypic and allelic frequencies of gene were statistically computed.The haplotype relative risk test(HRR)and transmission disquilibrium test(TDT)were applied to process genotype data.Results The distribution of genotypic frequency of rs9476867 was not deviated from Hardy-Weinberg equilibrium either in the parent group or in the patient sample.The rs9476867,a G to A base change,presented in the DTNBP1 locus.In the HRR test,its allelic frequency showed significant difference between case and control(χ2=0.706,P>0.05).And the TDT result did not show a genetic association between rs9476867 and schizophrenia(χ2=0.641,P>0.05).Conclusion There is no association between rs9476867 locus on DTNBP1 gene and schizophrenia.