Br J Psychiatry. 2013 Jan;202(1):5-6. doi: 10.1192/bjp.bp.112.109579.
Copy number variants are small chromosomal deletions and duplications. When they alter the dose of genes critical for normal brain development and adult brain functioning they may cause severe disorders such as autism and schizophrenia. Numerous such loci have recently been identified. They are offering amazing leads for neuropsychiatric research.
拷贝数变异是小的染色体缺失和重复。当它们改变了对正常大脑发育和成人大脑功能至关重要的基因剂量时,可能会导致严重的疾病,如自闭症和精神分裂症。最近已经确定了许多这样的基因座。它们为神经精神疾病研究提供了惊人的线索。