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目的探讨Period3(Per3)基因18号外显子54 bp可变数目串联重复(VNTR)序列多态性与中国汉族儿童注意缺陷多动障碍(ADHD)伴睡眠障碍的相关性。方法选取2005年8月-2010年5月在本科就诊、符合美国《精神障碍诊断与统计手册(第4版)》诊断标准的166例ADHD患儿为ADHD组,另收集150例健康儿童为对照组。用睡眠障碍量表(SDSC)评分评定儿童睡眠障碍情况,采用PCR技术分析ADHD组患儿与健康对照组儿童Per3基因54 bp-VNTR多态性基因型和等位基因的频率分布。将ADHD患儿根据SDSC量表评分分为有睡眠障碍组和无睡眠障碍组,并比较2组间Per3基因54 bp-VNTR多态性。结果 Per3基因54 bp-VNTR多态性各基因型(Per34/4,Per34/5,Per35/5)及等位基因(Per34,Per35)频率在ADHD组和健康对照组间的分布差异均无统计学意义(Pa>0.05),在伴睡眠障碍组和不伴睡眠障碍组间的分布差异均有统计学意义(Pa<0.05),伴睡眠障碍组携带等位基因Per35明显多于不伴睡眠障碍组(χ2=15.028,P<0.001;OR=2.760,95%CI:1.635~4.658)。结论 Per3基因54 bp-VNTR多态性可能与ADHD的易感性无关,但可能与ADHD伴睡眠障碍有关。
Objective To investigate the association between 54 bp variable number VNTR sequence of exon 18 of Period3 (Per3) gene and sleep disorders in children with ADHD and Chinese Han children. Methods A total of 166 children with ADHD who met the diagnostic criteria of Diagnostic and Statistical Manual of Mental Disorders (4th edition) from August 2005 to May 2010 were ADHD group and 150 healthy children group. The Sleep Disorders Scale (SDSC) was used to assess the sleep disorders in children. PCR was used to analyze the frequency distribution of 54 bp-VNTR polymorphism of alleles and genotypes in children with ADHD and controls. Children with ADHD were divided into two groups according to the SDSC scale: sleep disturbance group and no sleep disturbance group. Per-gene 54 bp-VNTR polymorphism was compared between two groups. Results There was no statistical difference in the distribution of Per34 gene polymorphisms (Per34 / 4, Per34 / 5, Per35 / 5) and Per34 (Per35) between ADHD and healthy controls (Pa> 0.05). There was significant difference in the distribution between sleep deprivation group and sleep deprivation group (Pa <0.05), and the Per35 allele in sleep deprivation group was significantly higher than those without sleep disturbances Group (χ2 = 15.028, P <0.001; OR = 2.760, 95% CI: 1.635-4.658). Conclusion The 54 bp-VNTR polymorphism of Per3 gene may not be related to the susceptibility to ADHD, but may be associated with ADHD with sleep disorders.