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目的探讨5-羟色胺转运体(5-hydroxytryptamine transporter,5-HTT)基因3个SNP位点(rs25533、rs34388196、rs1042173)的群体遗传学信息及其与偏执型精神分裂症的相关性。方法采用PCR-RFLP技术对中国北方汉族群体132例偏执型精神分裂症患者和150例健康无关个体5-HTT基因3个SNP位点遗传多态性进行检测,使用χ2检验进行Hardy-Weinberg平衡检验,对单倍型频率、群体遗传学参数进行统计学分析。结果 5-HTT基因3个SNP位点组成4种单倍型,其频率在精神分裂症组与对照组间比较差异无统计学意义(P>0.05),3个SNP位点的DP值分别为0.276、0.502、0.502,PIC值分别为0.151、0.281、0.281,PE值分别为0.014、0.072、0.072。结论 5-HTT基因3个SNP位点及其组成的4种单倍型与偏执型精神分裂症无相关性,而其多态性具有较高的法医学应用价值。
Objective To investigate the population genetic information of 5 SNPs (rs25533, rs34388196, rs1042173) and their association with paranoid schizophrenia. Methods The genetic polymorphisms of 5 SNPs in 132 paranoid schizophrenics and 150 unrelated healthy individuals of Han population in northern China were detected by PCR-RFLP. The Chi-square test was used to test the Hardy-Weinberg equilibrium The haplotype frequency and population genetic parameters were statistically analyzed. Results There were 4 haplotypes in 3 SNP loci of 5-HTT gene. The frequency of schizophrenia group and control group was no significant difference (P> 0.05). The DP value of 3 SNP loci were 0.276,0.502,0.502, PIC values were 0.151,0.281,0.281, PE values were 0.014,0.072,0.072. CONCLUSION: The three SNP loci of 5-HTT gene and their haplotypes have no correlation with paranoid schizophrenia, and their polymorphisms have high forensic value.