Scimago Lab
powered by Scopus
call: +1.631.470.9640
Mon-Fri 10 am - 2 pm EST


Medical Science Monitor Basic Research


eISSN: 1643-3750

Get your full text copy in PDF

Application of FISH and Q-PCR techniques in breakpoint diagnostics in three cases of marker chromosomes derived from chromosome 15

Zofia Helszer, Maria Constantinou, Joanna Nowacka, Grażyna Płucienniczak, Andrzej Płucienniczak, Bogdan Kałużewski

Med Sci Monit 2001; 7(3): MT464-470

ID: 510222

Background:     The goal of the study was a search for effective methods of diagnosing additional marker chromosomes.
Material/Methods:     Three cases of extra structurally abnormal chromosomes (ESACs) were diagnosed, the ESACs having been derived from chromosome 15 by cytogenetic techniques, the fluorescence in situ hybridisation (FISH) technique and the quantitative - polymerase chain reaction (Q-PCR). An application of a set of commercially available probes, specific for the 15q11.2-q12 regions (PWACR-Prader-Willi/Angelman Critical Region) allowed for a description of the breaking points.
Results:     The presence of PWACR region was confirmed in one case and excluded in the other two. It was also attempted to apply the Q-PCR technique for a more accurate determination of the size of the region involved in chromosomal aberration, what would allow for a more reliable prognosing of the clinical outcome. In one of the patients, the breaking point was localized as distal to D15S144 locus, while it was proximal to D15S11 locus in the two remaining cases.
Conclusions:     The obtained results demonstrate a possibility of using the Q-PCR method in diagnosing unbalanced chromosome aberrations

This paper has been published under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) allowing to download articles and share them with others as long as they credit the authors and the publisher, but without permission to change them in any way or use them commercially.
I agree