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目的探讨突触体维系蛋白-25(SNAP-25)基因3′端未翻译区 T1065G 和 T1069C 多态性位点与注意缺陷多动障碍(ADHD)的关系。方法采用聚合酶链反应-限制性片段长度多态性技术,检测138例 ADHD 患者(患者组)和119名对照者(对照组)基因型和等位基因频率。结果 (1)患者组与对照组 SNAP-25基因 T1065G 多态性基因型及等位基因频率的总体分布差异有统计学意义(P<0.05),其中患者组1065T/1065T 基因型(70.3%)和1065T 等位基因频率(84.1%)高于对照组(分别为56.3%和74.4%;P<0.05);患者组1065G/1065G 基因型频率(2.2%)略低于对照组(7.6%),但差异无统计学意义(P=0.07)。(2)SNAP-25基因 T1069C 多态性,两组均为1069T 等位基因(100%,100%),均未发现1069C 等位基因。结论 SNAP-25基因 T1065G 多态性与 ADHD 可能存在关联,1065T/1065T 基因型和1065T 等位基因可能是 ADHD 发病的危险因素。
Objective To investigate the relationship between T1065G and T1069C polymorphisms in the 3 ’untranslated region of synaptosomal maintenance protein-25 (SNAP-25) gene and attention deficit hyperactivity disorder (ADHD). Methods The genotypes and allele frequencies of 138 patients with ADHD (patient group) and 119 controls (control group) were detected by polymerase chain reaction - restriction fragment length polymorphism (PCR - RFLP). Results (1) There were significant differences in the overall distribution of T1065G polymorphism genotypes and allele frequencies between patients and controls (P <0.05), among which 1065T / 1065T genotype (70.3% And 1065T allele (84.1%) were higher than those in the control group (56.3% and 74.4% respectively; P <0.05). The genotype frequency of 1065G / 1065G was 2.2% lower than that of the control group (7.6% But the difference was not statistically significant (P = 0.07). (2) T1069C polymorphism of SNAP-25 gene, both of which were 1069T allele (100%, 100%). No 1069C allele was found in the two groups. Conclusion The T1065G polymorphism of SNAP-25 gene may be associated with ADHD. The 1065T / 1065T genotype and 1065T allele may be the risk factors of ADHD.