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 KałużewskiMed Sci Monit 2001; 7(3): MT464-470 :: ID: 510222
Abstract
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
Keywords: supernumerary marker chromosomes, fish, Q-PCR
552 0
Editorial
01 November 2023 : Editorial
Editorial: Factors Driving New Variants of SARS-CoV-2, Immune Escape, and Resistance to Antiviral Treatments as the End of the COVID-19 Pandemic is DeclaredDOI: 10.12659/MSM.942960
Med Sci Monit 2023; 29:e942960
In Press
30 Nov 2023 : Review article
Decoding the Neurological Sequelae of General Anesthesia: A ReviewMed Sci Monit In Press; DOI:
30 Nov 2023 : Clinical Research
Enhanced Pain Relief and Muscle Growth in Individuals with Low Back Instability: The Impact of Blood Flow R...Med Sci Monit In Press; DOI:
29 Nov 2023 : Clinical Research
Comparative Analysis of Intramedullary Nail versus Plate Fixation for Fibula Fracture in Supination Externa...Med Sci Monit In Press; DOI:
29 Nov 2023 : Clinical Research
Impact of COVID-19 on Academic Burnout among Medical College Students in China: Findings from a Web-Based S...Med Sci Monit In Press; DOI:
Most Viewed Current Articles
13 Nov 2021 : Clinical Research
Acceptance of COVID-19 Vaccination and Its Associated Factors Among Cancer Patients Attending the Oncology ...DOI :10.12659/MSM.932788
Med Sci Monit 2021; 27:e932788
30 Dec 2021 : Clinical Research
Retrospective Study of Outcomes and Hospitalization Rates of Patients in Italy with a Confirmed Diagnosis o...DOI :10.12659/MSM.935379
Med Sci Monit 2021; 27:e935379
14 Dec 2022 : Clinical Research
Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase LevelsDOI :10.12659/MSM.937990
Med Sci Monit 2022; 28:e937990
08 Mar 2022 : Review article
A Review of the Potential Roles of Antioxidant and Anti-Inflammatory Pharmacological Approaches for the Man...DOI :10.12659/MSM.936292
Med Sci Monit 2022; 28:e936292