| 摘要 |
A method of screening for autism in a subject comprises detecting the presence or absence of downregulation of expression of active human aromatic L-amino acid decarboxylase (AADC) in said subject, the downregulation of expression indicating said subject is afflicted with or at risk of developing autism. The method may be carried out by detecting the presence or absence of a mutation in the first neuronal exon of the human aromatic L-amino acid decarboxylase (AADC) gene. Subjects may be heterozygous or homozygous for the mutation. The mutation screened for is preferably a deletion mutation, and is most preferably a delta 26-29 deletion mutation. The presence of the mutation indicates that the subject is afflicted with autism or is at increased risk of developing autism. Isolated DNA encoding mammalian, preferably human, AADC, which isolated DNA contains a mutation as described above, is also disclosed, along with vectors containing such DNA and cells containing and expressing such DNA. |
