【摘要】 目的探讨肿瘤坏死因子-β(TNF-β)基因+A252G多态性位点与精神分裂症的关系。方法收集172个来自广东潮汕地区的精神分裂症核心家系,用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法,检测所有研究对象的TNF-β基因+A252G位点的基因频率和基因型,并进行基于单体型的单体型相对风险(HHRR)和传递不平衡检验(TDT)。结果HHRR分析结果显示,精神分裂症患者组与虚拟对照组之间+A252G位点的基因频率差异有统计学意义(2=5.28,P<0.05);TDT结果显示,杂合子父母过多地传递等位基因G给患者(2=5.49,P<0.05),提示该多态位点在精神分裂症中存在传递不平衡;按临床亚型进一步分层分析,+A252G位点只在96个偏执型分裂症家系中存在明显的传递不平衡(2=11.23,P<0.001)。结论在广东潮汕人群中,TNF-β基因+A252G位点与精神分裂症存在连锁,它可能是精神分裂症尤其是偏执型分裂症的易感基因或与之存在连锁不平衡。更多还原

【Abstract】 Objective To investigate the association between +A252G polymorphism locus in the tumor necrosis factor-βgene(TNF-β)and schizophrenia.Methods The genotypes and allelic frequencies of the TNF-β +A252G polymorphism were examined with polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP)in 172 schizophrenic trio families collected from Chaoshan region.The data were analyzed with haplotype relative risk and transmission /disequilibrium test.Results Haplotype relative risk result suggested that there was significant differences in the allelic frequencies between schizophrenia group and dummy control group(X2=5.2807,P<0.05);Transmission/disequilibrium test result suggested that the heterozygous parents excessively transfered the G allele to patients(X2=5.49,P<0.05),that showed +A252G polymorphism of TNF-β gene existed transmission disequilibrium in schizophrenia patients;The transmission/disequilibrium test in the 96 paranoid type schizophrenia trio families suggested that +A252G polymorphism of TNF-β gene existed strong biased transmission(X2=11.23,P<0.001).Conclusions The results suggested that TNF-β gene might confer susceptibility to schizophrenia,especially for paranoid type schizophrenia,or it existed linkage disequilibrium with schizophrenia in the Chaoshan population of China.更多还原