Center for Advanced Brain Imaging, The Nathan S Kline Institute for Psychiatric Research, Old Orangeburg Road, Orangeburg, New York, NY 10962, USA.
Genome Med. 2009 Jan 23;1(1):14. doi: 10.1186/gm14.
The search for a genetic basis for schizophrenia has taken a new turn recently with the publication of three reports of various rare copy-number variations that are associated with schizophrenia. While some of the findings may simply disappear as spurious reports, others remain interesting: that is, deletions in the Velocardiofacial syndrome region of chromosome 22, and regions of chromosome 1q21.1 and 15q13.3. These results will gain greater significance if future validation in family studies shows their segregation with illness within families, and when it is understood how the genes containing these variants affect the underlying neurochemistry and neuropathology characteristic of schizophrenia.
最近，随着三篇关于与精神分裂症相关的各种罕见拷贝数变异的报告的发表，寻找精神分裂症遗传基础的研究有了新的突破。虽然一些发现可能会被简单地当作虚假报告而消失，但其他的发现仍然很有趣：例如，22 号染色体的心脏面部综合征区域的缺失，以及 1q21.1 和 15q13.3 染色体区域的缺失。如果未来在家族研究中的验证表明这些变体所在的基因与家族内的疾病分离，并且当人们了解这些变体包含的基因如何影响精神分裂症的潜在神经化学和神经病理学特征时，这些结果将具有更大的意义。
