Author(s):
1. Vanja Tomic, Univerzitet u Istocnom Sarajevu, Pedagoski fakultet Bijeljina, Republic of Srpska, Bosnia and Herzegovina
2. Stojko Vidovic, Medicinski fakultet Banja Luka , Republic of Srpska, Bosnia and Herzegovina

Abstract:
Abstract: Recent advances in biotechnology has significantly improved clinical diagnostics on molecular level regarding patients with unexplained developmental delay, mental retardation, and multiple congenital anomalies, where the most common cause of these conditions are chromosomal aberrations. High resolution of array CGH allows detection of copy number variation in range from 100 to several mega base pairs in size. Array CGH technology is based on the comparison of the patients DNA with the reference DNA sample differently labeled with fluorescent dyes which are mixed and cohybridized to the targeted cDNA, BACs or P1 probes evenly spaced on the silicone slide. After hybridization, digital systems are used to capture and quantify the relative fluorescence intensities of each sample. The resulting ratio of the fluorescence intensities is proportional to the ratio of the copy numbers of DNA sequences in the patients and reference sample. With appropriate probe design, which can be targeted on a specific regions of chromosomes or across the entire genome, it is possible to detect imbalances on the submicroscopic level which includes microdeletions, microduplications, aneuploidy, marker chromosome, loss of heterozygosity, and uniparental disomy. These rearagements in human genetic material can be crucial for the diagnosis of hereditary disorders.

Key words:
Keywords: array comparative genomic hybridization, microdeletions, microduplications

Thematic field:
SYMPOSIUM B - Biomaterials and nanomedicine

Date of abstract submission:
07.07.2016.

Conference:
Contemporary Materials 2016 - Savremeni Materijali

Abstract