首发精神分裂症与离子型谷氨酸受体6基因多态性的关联研究  

Association study between ionotropic glutamate receptor 6(GluR6) gene polymorphisms and first episode (drug-naive) Chinese Han nationality individuals with schizophrenia

作　　者：马心慧[1,2] 刘英慧[1] 曹淑杰 郝晓蕾 付瑜[2] 殷石[2] 冯磊光[1] 

机构地区：[1]哈尔滨医科大学附属第一临床医学院检验科,黑龙江哈尔滨150001 [2]武警黑龙江省总队医院检验科,黑龙江哈尔滨150076 [3]黑龙江省哈尔滨市第一专科医院检验科,黑龙江哈尔滨150056

出　　处：《分子诊断与治疗杂志》2010年第6期379-382,共4页Journal of Molecular Diagnostics and Therapy

摘　　要：目的探讨中国北方汉族人群离子型谷氨酸受体-6(GluR6)基因多态性与首发精神分裂症是否关联。方法随机抽取95例首发精神分裂症患者作研究,以84例正常人作对照。分别采用full Cold-PCR联合限制性片段长度多态性(RFLP)技术和PCR-RFLP技术检测研究对象GluR6基因外显子15rs2227283(G/A碱基改变)及内含子13rs995640(A/G碱基改变)的单核苷酸多态性(SNP)。结果 GluR6基因rs995640多态性(χ2=0.562,υ=1,P=0.565)在病例组和对照组的基因型和等位基因分布频率无显著性差异;而rs2227283多态性(χ2=14.816,υ=1,P<0.001)则与精神分裂症显著相关。经多因素分析控制年龄、性别因素后各组基因型分布无显著性差异。结论在中国北方汉族人群中,GluR6基因内含子13rs995640多态性可能不是首发精神分裂症的一个危险因素而外显子15rs2227283多态性则可能与首发精神分裂症的易患性有关。Objective To explore the relationships between ionotropic glutamate receptor 6 （GluR6） gene polymorphisms and first episode northern Chinese Hart nationality individuals with schizophrenia. Methods The single nucleotide polymorphisms of GluR6 gene rs995640 and rs2227283 in 95 schizophrenic patients and 84 healthy controls were genotyped by applying full Cold-PCR amplification and restriction fragment length polymorphisms （RFLPs） technique. Results No significant difference was observed between the patients and the healthy controls in the genotype distributions and allele frequencies for the investigated rs995640 polymorphisms（ X 2=0.562, v =1, P=0.565）. But rs2227283 polymorphisms （x2=14.816, v =1, P〈0.001） were significantly associated with schizophrenia; No significant differences were found between more homogeneous subgroups of patients and control subjects. Conclusion This study suggests that the investigated polymorphisms in the GluR6 gene rs995640 are not major risk factors, but the polymorphisms in the rs2227283 may contribute to the susceptibility of the first episode northern Chinese Han nationality individuals with schizophrenia.

关 键 词：精神分裂症 离子型谷氨酸受体-6基因 基因多态性 汉族 中国 

分 类 号：R749.3[医药卫生—神经病学与精神病学]