含有髓磷脂相关基因PMP22的17p11.2染色体微缺失一例精神分裂症

The open psychiatry journal Pub Date : 2008-01-29 DOI:10.2174/1874354400802010001

Y. Ozeki, T. Mizuguchi, N. Hirabayashi, M. Ogawa, N. Ohmura, Miyuki Moriuchi, N. Harada, N. Matsumoto, H. Kunugi

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引用次数: 4

摘要

我们用比较基因组杂交(CGH)阵列和定量PCR方法报道了一例含有髓磷脂相关基因PMP22的17p11.2染色体缺失的精神分裂症患者。由于遗传联系-年龄与17p11, PMP22的表达减少，以及髓鞘形成的改变之前已经报道过，因此该报告提示PMP22在精神分裂症中的病因学作用。

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A Case of Schizophrenia with Chromosomal Microdeletion of 17p11.2 Containing a Myelin-Related Gene PMP22

We report a patient with schizophrenia who had a chromosomal deletion of 17p11.2 containing a myelin- related gene PMP22 by using comparative genomic hybridization (CGH) array and quantitative PCR. Since genetic link- age to 17p11, reduced expression of PMP22, and alterations in myelination have previously been reported, this report fur- ther suggests an etiological role of PMP22 in schizophrenia.

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The open psychiatry journal

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