Identification of DNA copy number aberrations by array comparative genomic hybridization in patients with ruptured intracranial aneurysms

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• 作者：Jin Soo Choi ; Seong-Rim Kim ; Yang-Whan Jeon ; Kweon-Haeng Lee ; Hyoung Kyun Rha
• 关键词：Intracranial aneurysm ; Chromosomal aberration ; Copy number variation ; Array comparative genomic hybridization ; Real time polymerase chain reaction
• 刊名：Journal of Clinical Neuroscience
• 出版年：2009
• 出版时间：February 2009
• 年：2009
• 卷：16
• 期：2
• 页码：295-301
• 全文大小：1207 K

文摘

We aimed to use array comparative genomic hybridization (CGH) to identify chromosomal loci that contribute to the pathogenesis of ruptured intracranial aneurysms (IAs) in a Korean population and to confirm the results using real-time polymerase chain reaction (PCR). Twenty-three patients with ruptured IAs were enrolled in this study. Array CGH revealed copy number aberrations in 19 chromosomal regions. Chromosomal gains were identified at a high frequency in regions 1p12, 4q24, 5p15.31, 5p15.33, 6p12.2, 6q22.33, 7p21.1, 9q22.1, 10q24.32, 10q26.3, 12q13.13, 17p12, 18q12.3, 18q23, 19p13.3, 20q13.33, 21q11.2, and 21q22.3, whereas chromosomal losses were identified at 15q11.2 and 22q11.21. Real-time PCR confirmed the results of the array CGH studies of the COL6A2, GRIN3B, MUC17, and PRODH genes. This is the first study to identify candidate regions by array CGH in patients with IAs. The identification of genes that may predispose an individual to the development of IAs may lead to a better understanding of the mechanism of IA formation. Multicenter studies comparing cohorts of patients of different ethnicities are needed to better understand the mechanism of IA formation.