摘要
目的探讨中国汉族人群中注意缺陷多动障碍（ADHD）与突触体联系蛋白25（SNAP-25）基因微卫星（STR）和单核苷酸多态性（SNP）的关系。方法本组100例，均为学龄期的ADHD患儿，通过唾液取样获取他们及其父母的DNA样本。同时选取符合年龄段的正常儿童97名作为对照组，DNA样本从血液中提取。检测100个ADHD核心家系和97个对照的SNAP-25基因STR，同时对rs363006和rs362549两段SNP进行基因分型，并进行病例对照的关联分析和传递不平衡检验（TDT）。结果STR病例对照分析结果显示ADHD组和对照组（TAAA）n的等位基因频率和基因型频率差异无统计学意义（P均〉0．05）；rs363006和rs362549两段SNP的家系TDT研究表明，SNAP-25基因和ADHD之间不存在关联（P均〉0．05）。按照亚型分组后，rs362549在注意缺陷型中有优先传递等位基因A的趋势（χ^2=8．00，P〈0．01），而在混合型中有优先传递等位基因G的趋势（χ^2=4．122，P〈0．05）。结论SNAP-25基因STR和上述两段SNP和ADHD之间也许不存在关联，但rs362549这段SNP的多态性和ADHD亚型可能存在关联，尚需扩大样本进一步验证才能得出确切结论。
Objective To analyse the association between polymorphism in human synaptosomalassociated protein of 25 000 （SNAP-25） gene and attention deficit hyperactivity disorder （ADHD） in Han Chinese children. Methods The study samples were comprised of 100 integrated ADHD trios （ included proband and biological parents） and 97 unrelated controls. Association of polymorphism with ADHD and its subtype was examined by： （1） comparing cases and controls ; （2） using family-based association study in transmission disequilibrium test （TDT）. Results Case-control analysis of short tandem repeat （STR） showed that there was no significant difference between the two groups in allele gene frequency and genotype frequency（P 〉0. 05）; TDT analysis of the rs363006 SNP and the rs362549 SNP revealed no association between SNAP-25 polymorphisms and ADHD（P 〉0. 05）. But after a stratification by ADHD subtype, the rs362549 SNP A allele showed a tendency to preferentially transmitted to ADHD-I subtype （χ^2 = 8.00, P 〈 0.01 ） ; and the rs362549 SNP G allele had a tendency to preferentially transmitted to ADHD-C subtype （χ^2 =4. 122,P 〈 0. 05）. Conclusions No association was found between SNAP-25 polymorphisms and ADHD. There was a possible association between rs362549 SNP polymorphism and ADHD subtypes, but the findings require replication before drawing a definitive conclusion.
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2008年第8期564-569,共6页
Chinese Journal of Pediatrics
基金
国家985平台基金中山大学资助项目
关键词
注意力缺陷障碍伴多动
遗传
多态性
单核苷酸
Attention deficit disorder with hyperactivity
Heredity
Polymorphism, single nucleotide
