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13.
Presejalni testi za iskanje kromosomskih sprememb pri idiopatski duševni manjrazvitosti : doktorska naloga
Erjavec Škerget, Alenka, 1974-
The subtelomeric regions are interesting from a genomic perspective, as they are gene rich and often involved in chromosomal rearrangements. Most telomeres stain light with G-banding, and small ...rearrangements are therefore difficult to detect. Due to the development of molecular cytogenetics techniques, it is possible to identify cryptic rearrangements involving the ends of chromosomes. Screening method generally used for detection of subtelomeric rearrangements is multiprobe telomere fluorescent in situ hybridization (T-FISH). In the last few years the new method multiplex ligation-dependent probe amplification (MLPA) became very reliable. With T-FISH we screened 100 patients (children and young adults, 0-19 years old) with idiopathic mental retardation (IMR) and/or dysmorphology and a normal kariotype. We recognized subtelomeric abnormalities in 10 patients (10 %). Four among them had a deletion of subtelomeric 2q, which was apparently normal variant. Among true aberrations (6 %) we found two subtelomeric deletion (one de novo) and four unbalanced subtelomeric rearrangements (one de novo). MLPA reviled all six of confirmed anomalies. With comparative genomic hybridization (CGH) we investigate the whole genome of patients where the subtelomeric anomaly was found. We confirmed subtelomeric rearrangements bigger than 8 Mb. Our study was used for further estimation of frequency of subtelomeric abnormalities in the patients with mental retardation and/or developmental disabilities and to determine the feasibility of using these three methods (T-FISH, MLPA and CGH) in clinical testing. All methods are efficient for routine cytogenetics diagnostic by IMR, congenital anomalies and by resolving complex karyotypes. We concluded that T-FISH is the most reliable method for subtelomeric screening. MLPA is simple, fast and specific and therefore most suitable for screening purposes while FISH is, despite it is expensive and time consuming, still necessary for the confirmation of the MLPA results. In our experiment the resolution power of CGH is too low for subtelomeric screening compared to T-FISH and MLPA.
Type of material - dissertation
; adult, serious
Publication and manufacture - Ljubljana : [A. Erjavec Škerget], 2006
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