【摘要】 [目的]探讨色氨酸羟化酶2(TPH2)基因rs7305115单核苷酸多态性与单相抑郁症及其症状表型的遗传关联性。[方法]提取197例单相抑郁症患者和225名健康对照者基因组DNA,采用聚合酶链反应(polymerase chain reaction PCR)扩增包括TPH2基因rs7305115位点的312bp基因组DNA片段及PCR产物直接测序。采用汉密顿抑郁量表(HAMD)评定病例组症状表型。[结果]在第7外显子周围未发现其他的单核苷酸多态性。单相抑郁患者和健康对照者TPH2rs7305115基因型和等位基因频率差异无统计学意义(P﹥0.05)。病例组中症状表型焦虑/躯体化、体重、日夜变化、迟缓、睡眠障碍在3种基因型间分布差异无统计学意义(P﹥0.05),而认知障碍和绝望感AA基因型与AG及GG基因型间差异均有统计学意义(P﹤0.01)。[结论]TPH2基因rs7305115单核苷酸多态性与单相抑郁无明显关联,与认知障碍和绝望感可能相关。更多还原

【Abstract】 [Objective]To explore the relation between single nucleotide polymorphism analysis of a novel tryptophan hydroxylase isoform(TPH2)gene rs7305115 and and symptom phenotypes in Han nationality of Chinese.[Methods]Specimens of peripheral blood were collected from Chinese 197 depression and 225 controls.Polymerase chain reaction(PCR)of a novel tryptophan hydroxylase isoform(TPH2)gene rs7305115 in length 312bp was analyzed by direct sequencing,and the symptom phenotypes of cases was evaluated by the Hamilton Rating Scale for Depression(HAMD).[Results]We did not discover new single nucleotide polymorphism.Compared with Control Group,no significant difference of genotypes and alleles of TPH2 gene rs7305115 single nucleotide polymorphism had been found in patient group(P﹥0.05).There was no significant difference of three genotypes distribution among symptom phenotypes in Anxiety/somatization,Weight,Diurnal variation,Retardation and Sleep disturbance of patient group.However there existed significant differences between genotypes of TPH2 gene rs7305115SNP and Cognitive disturbance,Hopelessnes in patient group(P﹤0.01).[Conclusion]TPH2 gene rs7305115 single nucleotide polymorphism may have no association with the susceptibility of depression,but associated with Cognitive disturbance and Hopelessnes in depression.更多还原