【摘要】 目的探索多巴胺D2受体(Dopamine D2receptor,DRD2)基因第8外显子Taq I A位点多态和多巴胺D3受体(Dopamine D3receptor,DRD3)基因第5内含子Msp I位点多态与汉族人群精神分裂症是否关联及其在不同性别是否存有差异。方法使用聚合酶链反应-限制性片段长度多态性(Polymerase chain reaction-re-striction fragment length polymorphism,PCR-RFLP)及DNA测序技术,对317例精神分裂症患者及310名对照DRD2Taq I A基因多态性和DRD3Msp I位点基因多态性进行检测。结果患者组与对照组间DRD2 Taq I A位点等位基因分布差异显著(P<0.01)、两两基因型对比(A1/A2与A1/A1相比:P<0.05;A2/A2与A1/A1相比:P<0.01)及两基因型联合对比(A1/A2+A2/A2与A1/A1:P<0.01)组间差异也显著。性别分层研究DRD2Taq I A位点女性组间差异显著(P<0.01),男性组间差异无意义(P>0.05)。DRD3Msp I位点的基因型频率、等位基因分布及性别分层分析等所有数据均显示患者组与对照组之间差异无统计学意义(P>0.05)。风险因子趋势检验结果DRD2Taq I A位点等位基因A2:P<0.01;DRD3Msp I位点等位基因2:P>0.05。结论所得数据支持DRD2Taq I A位点等位基因A2可能为精神分裂发生的风险因子,特别对女性而言。数据分析不支持DRD3Msp I位点基因与精神分裂发生有关。此结果需更进一步研究证实。更多还原

【Abstract】 Objective To study the impact of dopamine D2 receptor(DRD2) gene exon 8 Taq I A and dopamine D2 receptor(DRD3) Gene intron 5 Msp I polymorphism in schizophrenia(SZ) of the Han Population,and are there any difference between male and female.Methods Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and DNA sequence were used to determine the mutation of DRD2 Taq I A,DRD3 Msp I polymorphism of 317 patients and 310 healthy controls.Results The statistical analyses show that there have significant difference of distribution between SZ and control group of DRD2 Taq I A allele frequencies(P < 0.01),and the genotype(A1/A2 vs.A1/A1: P < 0.05;A2/A2 vs.A1/A1: P < 0.01).The two genotypes joint contrast(A1/A2 + A2/A2 and A1/A1: P < 0.01) difference between the groups was also significantly.The gender stratification analysis of DRD2Taq I A genes show significant differences(P < 0.01) between female patients and control groups,and meaningless in men(P > 0.05).All analytical data show that there have no significant differences of distribution between patients and control group of DRD3 Msp I gene(P > 0.05).The test results of risk factor trends for DRD2 Taq I A allele A2 P < 0.01;DRD3 Msp I alleles 2 P > 0.05.Conclusion The data support the DRD2 Taq I A allele A2 might be a risk factor for schizophrenia,especially for women.And the data does not support the occurrence of DRD3 Msp I gene and schizophrenia.Larger study populations are needed to confirm our findings.更多还原