中文摘要：

目的探讨位于锌指蛋白804A（zinc finger protein 804A, ZNF804A）内含子区内的多态位点rsl344706与精神分裂症的关系。方法提取来自广东省的250例精神分裂症患者和201名正常对照基因组DNA，通过聚合酶链反应扩增rsl344706位点前后250bpDNA片段，应用直接测序法确定rsl344706基因型，比较两组间以及按性别分层后两组间rsl344706的等位基因及基因型分布频率。结果患者组携带rsl344706位点C等位基因的频率高于对照组（52．0％1）S．44．3％，P=0．025），但两组间基因型分布差异无统计学意义（P=0．054）；按性别分层后进一步比较，rsl344706在患者组女性和对照组女性之间的C等位基因频率（55．3％1）8．41．1％，P=0．007）及基因型分布（P=0．022）差异具有统计学意义，而患者组男性与对照组男性相比，c等位基因频率及基因型分布差异均无统计意义（均P〉0．05）。结论ZNF804Arsl344706中的c等位基因是广东省汉族女性精神分裂症的风险因子，ZNF804Ars1344706多态性与精神分裂症存在关联。

英文摘要：

Objective To investigate the potential association between ZNF804A rs1344706 polymorphism and schizophrenia. Methods Genomic DNA, extracted from Guangdong patients with schizophrenia （n=250） and healthy controls （n=201）, was amplified by PCR to generate a 250bp product spanning rs 1344706. The single nucleotide polymorphism （SNP） rs 1344706 was genotyped by direct sequencing. The allelic and genotypic distributions in rs 1344706 were compared between patients with schizophrenia and healthy controls, also between the two groups based on gender stratification. Results In comparison between patients and controls, the frequency of C allele in patients was higher than that in controls （52.0% vs. 44.3%, P=0.025）, but there was no significant difference in the genotypic distributions （P=0.054）. Analysis of stratification by gender showed that both C allele frequency （55.3% vs. 41.1%, P=-0.007） and genotypic distributions （P=0.022） in rs1344706 with patients were significantly different in females, but neither in males （P〉0.05）. Conclusions Our results suggest that C allele at ZNFS04A rs1344706 may be the risk variant for schizophrenia in a limited female population from Guangdong province, and that rs1344706 polymorphism of ZNFS04A is a risk factor for schizophrenia.