OP15. MOLECULAR KARYOTYPING - NOVEL POWERFUL TOOL FOR GENE IDENTIFICATION
BALIKOVA I. 1,3, Dimitrov B. 3, Devriendt K. 3,de Ravel T 3 ,Ganev V. 2, Kalev I 1, Vermeesch R.J. 3, Simeonov E. 1 and Fryns J.P. 3 1. Department of Pediatrics, Medical University of Sofia, Bulgaria 2. Department of Chemistry and Biochemistry Medical University of Sofia, Bulgaria 3. Center of Human Genetics, University Hospital Gasthuisberg, KU Leuven, Belgium email: Irina.Balikova@uz.kuleuven.be
*Corresponding Author:
page: 42

Abstract

Molecular karyotyping or genome wide array comparative genomic hybridization [array CGH] is novel cytogenetic method allowing whole genome analysis with resolution higher then that of the conventional techniques. In this method two differentially labeled genomic DNAs (patient and reference) are hybridized competitively on a matrix of spotted DNA fragments. The intensity ratio of both fluorochromes reflects the relative amount of material present in the samples it is measured for each spotted DNA fragment. Deletions and duplications can thus be identified. Array CGH has sensitivity approximately ten times higher then that of the conventional karyotype. Depending on the clinical selection of the patients this method detects small chromosomal abnormalities in up to 15% of the patients with hitherto unexplained mental retardation. Comparison of the deletions makes it possible to delineate critical regions containing genes responsible for the observed phenotypes. This makes array CGH invaluable tool for the identification of novel genes responsible for human diseases. The array CGH analysis of selected patients and the possible candidate regions for their unique phenotypes will be presented.



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