Suh Jong Hui, Yoon Jeong-Seob, Kwon Jong-Bum, Kim Hwan Wook, Wang Young-Pil
Department of Thoracic and Cardiovascular Surgery, Incheon St. Mary's Hospital, The Catholic University of Korea, College of Medicine, Korea.
Korean J Thorac Cardiovasc Surg. 2011 Apr;44(2):123-30. doi: 10.5090/kjtcs.2011.44.2.123. Epub 2011 Apr 14.
The aim of the present study was to identify chromosomal loci that contribute to the pathogenesis of aortic dissection (AD) in a Korean population using array comparative genomic hybridization (CGH) and to confirm the results using real-time polymerase chain reaction (PCR).
Eighteen patients with ADs were enrolled in this study. Genomic DNA was extracted from individual blood samples, and array CGH analyses were performed. Four corresponding genes with obvious genomic changes were analyzed using real-time PCR in order to assess the level of genomic imbalance identified by array CGH.
Genomic gains were most frequently detected at 8q24.3 (56%), followed by regions 7q35, 11q12.2, and 15q25.2 (50%). Genomic losses were most frequently observed at 4q35.2 (56%). Real-time PCR confirmed the results of the array CGH studies of the COL6A2, DGCR14, PCSK6, and SDHA genes.
This is the first study to identify candidate regions by array CGH in patients with ADs. The identification of genes that may predispose an individual to AD may lead to a better understanding of the mechanism of AD formation. Further multicenter studies comparing cohorts of patients of different ethnicities are warranted.
本研究旨在利用阵列比较基因组杂交（CGH）确定韩国人群中导致主动脉夹层（AD）发病机制的染色体位点，并通过实时聚合酶链反应（PCR）验证结果。
本研究纳入了18例主动脉夹层患者。从个体血样中提取基因组DNA，并进行阵列CGH分析。使用实时PCR分析四个具有明显基因组变化的相应基因，以评估阵列CGH鉴定的基因组失衡水平。
基因组增益最常出现在8q24.3（56%），其次是7q35、11q12.2和15q25.2区域（50%）。基因组缺失最常出现在4q35.2（56%）。实时PCR证实了COL6A2、DGCR14、PCSK6和SDHA基因的阵列CGH研究结果。
这是第一项通过阵列CGH在主动脉夹层患者中鉴定候选区域的研究。鉴定可能使个体易患主动脉夹层的基因可能有助于更好地理解主动脉夹层形成的机制。有必要进行进一步的多中心研究，比较不同种族患者队列。
