公开(公告)号：US20130072391A1

公开(公告)日：2013-03-21

申请号：US13446711

申请日：2012-04-13

申请人： Changwon KANG ,  Eunjoon KIM ,  Jae-Won Kim ,  Eunjin KIM ,  Hyejung WON ,  Won MAH ,  Soo-Churl CHO

发明人： Changwon KANG ,  Eunjoon KIM ,  Jae-Won Kim ,  Eunjin KIM ,  Hyejung WON ,  Won MAH ,  Soo-Churl CHO

IPC分类号： C40B30/04 ,  C40B40/06 ,  C07H21/04 ,  G01N21/64

CPC分类号： C12Q1/6883 ,  C12Q2600/156 ,  G01N21/76

摘要： The following disclosure relates to a technology of genotyping a particular single nucleotide polymorphism (SNP) having significant association with attention deficit hyperactivity disorder (ADHD) and using the SNP genotypes for predicting the risk of ADHD. The present invention relates to providing a method of predicting ADHD risk by identifying the nucleotide of rs5508181 SNP in GIT1, which is C or T at the 24926101st residue on human chromosome 17, and a linkage disequilibrium block harboring rs5508181. Further, the present invention relates to a composition for diagnosing ADHD risk, including a probe for detecting the SNP or a primer for amplifying the chromosomal region, and a diagnosing kit having the probe immobilized on a surface thereof. Therefore, the method, the composition and the kit for diagnosing ADHD risk according to the following disclosure are useful technologies that can conveniently classify risk groups for ADHD at high sensitivity.

摘要翻译： 以下公开内容涉及与注意缺陷多动障碍（ADHD）具有显着相关性并使用SNP基因型来预测ADHD风险的特定单核苷酸多态性（SNP）进行基因分型的技术。 本发明涉及通过鉴定GIT1中rs5508181 SNP的核苷酸，即在17号染色​​体上的第24926101位残基处的C或T以及含有rs5508181的连锁不平衡块来提供预测ADHD风险的方法。 此外，本发明涉及用于诊断ADHD风险的组合物，包括用于检测SNP的探针或用于扩增染色体区域的引物，以及具有固定在其表面上的探针的诊断试剂盒。 因此，根据以下公开的方法，组合物和用于诊断ADHD风险的试剂盒是可以以高灵敏度方便地分类ADHD风险组的有用技术。