Korean J Thorac Cardiovasc Surg.  2011 Apr;44(2):123-130. 10.5090/kjtcs.2011.44.2.123.

Identification of Genomic Aberrations by Array Comparative Genomic Hybridization in Patients with Aortic Dissections

• Suh JH
• Yoon JS
• Kwon JB
• Kim HW
• Wang YP

• KMID: 1448570
• DOI: http://doi.org/10.5090/kjtcs.2011.44.2.123

Abstract

BACKGROUND
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).
MATERIALS AND METHODS
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.
RESULTS
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.
CONCLUSION
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.

Keyword

Aorta; Aortic dissection; Genes; Polymerase chain reaction

MeSH Terms

Aorta
Cohort Studies
Comparative Genomic Hybridization
DNA
Humans
Polymerase Chain Reaction
Real-Time Polymerase Chain Reaction
DNA