TPH基因多态性与共患学习困难的儿童注意缺陷多动障碍的相关性

Association between tryptophan hydroxylase gene polymorphisms and attention deficit hyperactivity disorder with or without learning disorder

目的 探讨伴和不伴学习困难 (LD)的儿童注意缺陷多动障碍 (ADHD)及各种亚型ADHD与色氨酸羟化酶 (TPH)基因A2 18C和A 6 5 2 6G两种多态之间的关联。方法 就 132个LD的ADHD核心家系和 2 2 1个不共患LD的ADHD核心家系的A2 18C和A 6 5 2 6G两种多态进行检测 ,并采用传递不平衡检验 (TDT)和单体型分析两种分析方法进行关联分析。结果 TPH基因与共患LD的ADHD相关联 (χ2 =9.36 2 ,df =3,P =0 .0 2 5 ) ;单体型 2 18A/- 6 5 2 6G在共患LD的ADHD核心家系中传递较少 (χ2 =9.2 5 2 ,df =1,P =0 .0 0 2 )。 结论 TPH基因及TPH基因的 2 18A/- 6 5 2 6G单体型与共患LD的ADHD相关联。

Objective To investigate the relationship between two tryptophan hydroxylasec (TPH) gene polymorphisms, A218C and A-6526G polymorphisms, and attention deficit hyperactivity disorder (ADHD) with or without learning disorder (LD). Methods Blood samples were taken from 132 trios with probands of ADHD with LD and 221 trios with probands of ADHD without LD. DNA was extracted and PCR was performed to amplify the fragments of A218C amd A-6526G polymorphisms. NheI and MboI were used to detect different alleles of the two polymorphisms separately. transmission disequilibriumtest (TDT) and haplotype analysis were used to test the association of the two polymorphisms of TPH gene and ADHD with or without LD. Results Haplotype block composed by A218C and A-6526G polymorphisms was related to ADHD with LD(χ2=9.362, df=3, P=0.025). The haplotype of 218A/-6526G was significantly untransmitted to the probands with ADHD with LD (χ2=9.252, df=1, P=0.002). Conclusion TPH gene and the haplotype of 218A/-6526G may be related to ADHD with LD.