Foroughmand Ali M, Galehdari Hamid, Dastgerdi Bentalhoda Tirband, Khatami Saeed Reza, Haidari Maryam
Department of Genetics, Faculty of Sciences, Shahid Chamran University, Ahwaz, Iran.
Indian J Hum Genet. 2012 May;18(2):222-5. doi: 10.4103/0971-6866.100773.
Dopaminergenic system plays an essential role in the plasticity of the human brain. The dopamine transporter gene (SLC6A3) mediates active reuptake of dopamine from synapsis, terminates dopamine signals, and therefore, is implicated in a number of dopamine-related disorders like psychosis. Variations in the form of single nucleotide polymorphisms in the core promoter of the SLC6A3 gene are reported to be involved in the pathogenesis of schizophrenia. In this study, we also attempted to establish the possible role of the polymorphism G-660C in the SLC6A3 gene promoter in schizophrenia in a case-control study.
The allele and genotype frequency were analyzed in an Iranian cohort of 200 unrelated patients and 200 controls using polymerase chain reaction and restriction fragment length polymorphism.
The genotype frequency for case and control groups was GG 100%, GC 0%, CC 0%, and GG 100%, GC 0%, CC 0%, respectively. The C allele was failed in both groups.
Our data suggest clearly that there is no association between the -660G/C polymorphism and outcome of schizophrenia in the Iranian population.
多巴胺能系统在人类大脑可塑性中起重要作用。多巴胺转运体基因（SLC6A3）介导突触中多巴胺的主动重摄取，终止多巴胺信号，因此与许多多巴胺相关疾病如精神病有关。据报道，SLC6A3基因核心启动子中的单核苷酸多态性形式的变异参与了精神分裂症的发病机制。在本研究中，我们还试图通过病例对照研究确定SLC6A3基因启动子中多态性G-660C在精神分裂症中的可能作用。
使用聚合酶链反应和限制性片段长度多态性分析了200名无亲缘关系的伊朗患者和200名对照的等位基因和基因型频率。
病例组和对照组的基因型频率分别为GG 100%、GC 0%、CC 0%和GG 100%、GC 0%、CC 0%。两组中均未检测到C等位基因。
我们的数据清楚地表明，在伊朗人群中，-660G/C多态性与精神分裂症的发病结果之间没有关联。
