公开(公告)号：EP2714919A1

公开(公告)日：2014-04-09

申请号：EP12789354.3

申请日：2012-05-25

申请人： University Of Cincinnati ,  Cincinnati Children's Hospital Medical Center

发明人： CLARK, Joseph,F. ,  PYNE-GEITHMAN, Gail ,  KUROSAWA, Yuko ,  ZHANG, Kejian ,  ZHANG, Wenying ,  KEDDACHE, Mehdi

IPC分类号： C12P19/34 ,  C12Q1/68

CPC分类号： C12Q1/6883 ,  C12Q1/6869 ,  C12Q2600/156 ,  C12Q2531/113 ,  C12Q2537/143

摘要： Amplification primers, sequencing primers, kits for screening, and screening methods for identifying a
SLC6A8 creatine transporter gene mutation are disclosed. The screening method includes treating a sample of DNA with polymerase chain reaction amplification primers for amplifying regions of the DNA having
SLC6A8 to produce a first, second, and third amplification product, sequencing the first, second, and third amplification products with sequencing primer pairs to provide a DNA sequence of
SLC6A8 in the sample, and comparing the DNA sequence of
SLC6A8 with a reference DNA sequence of
SLC6A8 .