ARRAY COMPARATIVE GENOMIC HYBRIDIZATION:
A NEW GENOMIC APPROACH FOR HIGH-RESOLUTION
ANALYSIS OF COPY NUMBER CHANGES
Dimova Iv
*Corresponding Author: Dr. Ivanka Dimova, Department of Medical Genetics, Medical University Sofia, 2 Zdrave str, 1431 Sofia, Bulgaria; Tel.Fax: +359-2-952-03-57; E-mail: idimova73@yahoo.com
page: 11
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ARRAY COMPARATIVE GENOMIC HYBRIDIZATION IN HUMAN GENETIC DISEASE
Chromosomal aberrations are associated with many congenital anomalies characterized by various dysmorphologies and/or mental retardation. Currently, cytogenetic analysis of Giemsa-stained metaphase chromosomes (G-banding) is applied to characterize such abnormalities. Typically this assay reveals 550 bands, thus permitting identification of deletions or duplications and inversions if they are of sufficient size. Application of fluorescent in situ hybridization (FISH) can improve resolution and is widely used for detection of changes in DNA copy number and of inversions. However, it is usually applied in a targeted manner that assesses one or several candidate loci at a time. Genomic arrays offer several advantages for screening of changes in copy number in human genetic disease. These include higher resolution mapping, directly to a genome sequence and higher throughput due to the massive parallelism of the assay.
Small chromosomal rearrangements involving the telomeres have been found in association with idiopathic mental retardation. Arrays designed to detect alterations in copy number in subtelomeric regions, using an optimized set of human subtelomere-specific probes, have been reported [6,34]. In a blind study of 20 patients with known cytogenetic abnormalities, aCGH showed the expected aberrations as well as additional cytogenetically cryptic changes in copy number [6]. A study of 102 individuals with unexplained mental retardation demonstrated that aCGH is equivalent to telomere FISH for detecting submicroscopic deletions. Moreover, small duplications that are not easily visible by FISH can be accurately detected using aCGH [34]. Because aCGH allows simultaneous investigation of hundreds to thousands of DNA probes and is more amenable to automation, it offers an efficient and high-throughput alternative for detecting and calibrating unbalanced rearrangements of the telomere region as well as of other genomic locations.
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