多巴胺β羟化酶基因多态性与淮海地区汉族人群注意力缺陷多动障碍关联分析  

of dopamine β hydroxylase gene polymorphisms with attention -deficit hyperactivity disorder

作　　者：张婷[1] 印晓星[1] 袁宝强[2] 葛卫红[3] 刘淑华[4] 康学军[5] 鲁茜[1] 高杏[1] 

机构地区：[1]徐州医学院新药与临床实验室,江苏徐州221002 [2]徐州医学院附属医院儿科,江苏徐州221002 [3]南京大学医学院附属鼓楼医院药剂科,江苏南京210008 [4]徐州市第一人民医院儿科,江苏徐州221005 [5]东南大学儿童发展与学习科学教育部重点实验室,江苏南京210096

出　　处：《徐州医学院学报》2012年第6期374-379,共6页Acta Academiae Medicinae Xuzhou

摘　　要：目的通过多巴胺β羟化酶（DpH）基因rs1611115、rs1108580多态性位点的筛查，探索DpH基因多态性与中国淮海地区汉族人群儿童注意力缺陷多动障碍（ADHD）的相关性。方法采用病例一对照研究，应用聚合酶链反应限制性片段长度多态性（PCR—RFLP）分析技术，对人选的50例汉族注意缺陷多动障碍患儿及50例正常儿童的rsl611115、rs1108580位点的基因型进行检测，利用ELISA法检测D13H活性。结果rsl611115位点3种基因型比较，差异无统计学意义（x2=0．434，P=0．805）；等位基因之间比较差异也无统计学意义（x2=0．385，P=0．535）。rs1108580位点的3种基因型比较，差异有统计学意义（x2=7．062，P=0．029），但等位基因之间比较，差异无统计学意义（x2=2．000，P=1．157）。结论淮海地区ADHD患儿中存在rsl611115及rs1108580位点突变基因，但单个rs1611115位点可能与ADHD疾病无关。rs1108580突变位点单独存在时并不起作用，只有它处于纯合状态时才与ADHD相关。Objective To investigate the association of dopamine [3 hydroxylase polymorphisms with Attention - def- icit hyperactivity disorder （ADHD）in a Chinese Han population by screening the gene DβH of rs1611115 site and rs1108580 site, in order to reveal the role of the gene DβH in ADHD etiology mechanism. Mehtods 50 children with ADHD and 50 normal children were enrolled. Rsl611115 and rs1108580 single nucleotide polymorphisms （SNP） were examined with PCR and RFLP techniques. The enzyme activity of D^H was determined with ELISA. Results The fre- quencies didnt show significant differences between the control group and ADHD group （P = 0. 805 for genotypes and P -0. 535 for allele）. The frequencies of genotypes showed significant differences between the control group and ADHD group （ P = 0.029）, but the frequencies of allele didut show significant differences （ P = 0. 535 ）. Conclusion Results showed that the rsl611115 mutant is present in patients with ADHD in Huaihai region. But the rsl611115 mutant may not be associated with ADHD. The rs1108580 mutant is present in patient with ADHD in northern Jiangsu province. There is no effect when rs1108580 site exist alone, while it is in the homozygous state it will have a relationship with ADHD.

关 键 词：儿童注意力缺陷多动障碍 DβH基因 单核苷酸多态性 淮海地区 

分 类 号：R969[医药卫生—药理学]