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通过阵列比较基因组杂交技术鉴定精神分裂症患者的DNA拷贝数畸变

Identification of DNA copy-number aberrations by array-comparative genomic hybridization in patients with schizophrenia.

作者信息

Moon Ho Jin, Yim Sung-Vin, Lee Woon Kyu, Jeon Yang-Whan, Kim Young Hoon, Ko Young Jin, Lee Kwang-Soo, Lee Kweon-Haeng, Han Sang-Ick, Rha Hyoung Kyun

机构信息

Department of Pharmacology, College of Medicine, The Catholic University of Korea, Seoul 137-701, Republic of Korea.

出版信息

Biochem Biophys Res Commun. 2006 Jun 2;344(2):531-9. doi: 10.1016/j.bbrc.2006.03.156. Epub 2006 Apr 3.

DOI:10.1016/j.bbrc.2006.03.156
PMID:16630559
Abstract

Chromosomal abnormalities are implicated as important markers for the pathogenesis in patients with schizophrenia. In this study, with using bacterial artificial chromosome (BAC) array-based comparative genomic hybridization (CGH), we analyzed DNA copy-number changes among 30 patients with schizophrenia. The most frequent changes were partial gain of Xq23 (52%) and loss of 3q13.12 (32%). Other frequent gains were found in: 1p, 6q, 10p, 11p, 11q, 14p, and 15q regions, and frequent losses were found in: 2p, 9q, 10q, 14q, 20q, and 22q regions. The set of abnormal regions was confirmed by real-time PCR (9q12, 9q34.2, 11p15.4, 14q32.33, 15q15.1, 22q11.21, and Xq23). All real-time PCR results were consistent with the array-CGH results. Therefore, it is suggested that array-CGH and real-time PCR analysis could be used as powerful tools in screening for schizophrenia-related genes. Our results might be useful for further exploration of candidate genomic regions in the pathogenesis of schizophrenia.

摘要

染色体异常被认为是精神分裂症患者发病机制的重要标志物。在本研究中,我们使用基于细菌人工染色体(BAC)阵列的比较基因组杂交(CGH)技术,分析了30例精神分裂症患者的DNA拷贝数变化。最常见的变化是Xq23部分增益(52%)和3q13.12缺失(32%)。其他常见增益出现在:1p、6q、10p、11p、11q、14p和15q区域,常见缺失出现在:2p、9q、10q、14q、20q和22q区域。通过实时PCR(9q12、9q34.2、11p15.4、14q32.33、15q15.1、22q11.21和Xq23)确认了异常区域集。所有实时PCR结果与阵列CGH结果一致。因此,提示阵列CGH和实时PCR分析可作为筛选精神分裂症相关基因的有力工具。我们的结果可能有助于进一步探索精神分裂症发病机制中的候选基因组区域。

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