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首页> 外文期刊>Journal of clinical neuroscience: official journal of the Neurosurgical Society of Australasia >Identification of DNA copy number aberrations by array comparative genomic hybridization in patients with ruptured intracranial aneurysms.
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Identification of DNA copy number aberrations by array comparative genomic hybridization in patients with ruptured intracranial aneurysms.

机译:通过阵列比较基因组杂交鉴定颅内动脉瘤破裂患者的DNA拷贝数畸变。

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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 ofthe mechanism of IA formation. Multicenter studies comparing cohorts of patients of different ethnicities are needed to better understand the mechanism of IA formation.
机译:我们旨在使用阵列比较基因组杂交(CGH)来鉴定导致韩国人群颅内动脉瘤破裂(IAs)发病机理的染色体位点,并使用实时聚合酶链反应(PCR)确认结果。本研究纳入了IAs破裂的23例患者。阵列CGH揭示了19个染色体区域的拷贝数异常。在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和21q22.3,而染色体损失在15q11.2和22q11.21处确定。实时PCR证实了COL6A2,GRIN3B,MUC17和PRODH基因的阵列CGH研究结果。这是第一项通过阵列CGH识别IAs患者的候选区域的研究。鉴定可能使个体易患IAs的基因可能会导致对IA形成机制的更好理解。需要进行多中心研究来比较不同种族患者的队列,以更好地了解IA形成的机制。

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