中文摘要：

目的：探讨精神分裂症断裂基因（DISC1）rs821633,rs1000731单核苷酸多态性（SNP）与阿尔茨海默病（AD）的关系.方法提取中国上海汉族441例 AD 患者和749名健康对照组的 DNA,采用 Taqman 探针 SNP 基因分型技术测定 DISC1基因 SNP rs821633和 rs1000731位点的等位基因及基因型,检测两组受试者等位基因及基因型的频率分布差异.结果两组受试者中 rs821633不符合Hardy－Weinberg 平衡定律给予舍弃,rs1000731符合 Hardy－ Weinberg 平衡定律纳入,rs1000731位点的等位基因及基因型在两组受试者中分布比较,差异无统计学意义（P ＞0．05）.结论 DISC1基因SNP rs1000731与 AD 无明显关联.

英文摘要：

Objective To explore the association of single nucleotide polymorphisms （SNP）in rs821 633 and rs1000731 of Disrupted in Schizophrenia 1 （DISC1 ）gene with Alzheimer disease （AD）. Methods DNA of 441 AD patients （case group）and 749 healthy controls （control group）of Han popu-lation in Shanghai were extracted.Genotypes in rs821 633 and rs1000731 of DISC1 gene were detected by Taqman SNP genotyping technology.The frequency distributions of genotypes in case group and control group were compared.Results rs821 633 was excluded because its genotype distributions were not con-sistent with the Hardy-Weinberg equilibrium in two groups.The genotype distributions of rs1000731 in two groups were consistent with the Hardy - Weinberg equilibrium.The differences in genotype and allele frequency in rs1000731 between two groups were not statistically significant （P 〉 0.05）. Conclusions rs1000731 of DISC1 gene may not associated with AD.