5-羟色胺1D基因多态与共患学习困难的儿童注意缺陷多动障碍的相关性

目的:探讨共患学习困难(LD)的儿童注意缺陷多动障碍(ADHD)与5-羟色胺1D受体基因(HTR1D)1350T＞C和1236A＞G两种多态之间的关联.方法: 就91个共患LD的ADHD核心家系和181个不共患LD的ADHD核心家系的1350T＞C和1236A＞G两种多态进行检测,并分别进行传递不平衡(TDT)检验和单体型分析.结果:在不共患LD的家系中1236A等位基因(χ2＝5.306,P=0.021,传递和未传递的次数分别为115和82)传递次数明显增加.在共患LD的家系中未发现任何等位基因和单体型的传递不平衡现象.结论:ADHD共患LD与否在HTR1D受体基因多态水平存在遗传差别,遗传在不共患LD的ADHD中具有更重要的作用.

Association between serotonin 1D gene polymorphisms and attention deficit hyperactivity disorder comorbid or not comorbid learning disorder

OBJECTIVE: To investigate the relationship between two HTR1D gene polymorphisms, 1350T>C and 1236A>G polymorphisms, and attention deficit hyperactivity disorder (ADHD) comorbid or not comorbid learning disorder (LD). METHODS: Blood samples were taken from 91 trios with probands of ADHD comorbid LD and 181 trios with probands of ADHD not comorbid LD. DNA was extracted. 1350T>C and 1236A>G were genotyped by restriction fragment length polymorphism analysis. Transmit/disequilibrium test and haplotype analysis were used to test the association between the two polymorphisms of HTR1D gene and ADHD comorbid or not comorbid LD separately. RESULTS:1236A allele (chi2=5.306, P=0.021) was overtransmitted to probands of ADHD without LD. No biased transmissions of any allele and haplotype were found in families with probands of ADHD with LD. CONCLUSION: whether ADHD comorbid LD or not comorbid LD makes difference at the level of HTR1D gene polymrohisms of 1236A>G.