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Title: The analysis of chromosomal mikraberration in patients with mental retardation and/or devoplemtal delays by hr-CGH procedure. The asessment of corelation the phenotype the genotype. Preliminarny investigations
Abstract:
High resolution Comparative Genomic Hybridization is one of the cytomolecular methods which can be used in detection of the small chromosomal aberrations such as microduplications or microdeletions, which can’t be analyzed by standard GTG banding procedure. The aim of this project was verification of the following hypothesis:“There are no chromosomal aberrations in patients with mental retardation and developmental delays which can be detected by high resolution Comparative Genomic Hybridization method (hr – CGH).” The practical aim of this project was introduction of the hr – CGH method in routine diagnostics of menthal retardation and developmental delay in The Cytogenetics Laboratory in the Department of Medical Genetics on Jagiellonian University During the project 95 DNA samples from 95 patients with mental retardation or developmental delays were analysed. In 93 cases standard GTG kariotype was correct – any chromosomal changes wasn’t detected. In 2 patients GTG kariotype showed an extra chromosomal material on chromosome 18th pair and one chromosomal marker. All results from hr – CGH analysis were verified by QF - PCR procedure (in this dissertation called sQF – PCR – semiQuantitative Fluorescent Polymerase Chain Reaction) with Sybr®Green, every time for two different-random genes located in regions of potential changes. In 17 cases positive results including t ; wo patients with an extra chromosomal material and chromosomal marker were detected. In these two cases the identification place of chromosomes fragments origin was executed. The results confirmed the possibility of the high resolution Comparative Genomic Hybridization method (hr - the CGH) in utilization diagnostics of cytogenetics basis of mental retardation and developmental delays. It was also showed the usefulness of the hr – CGH method in diagnostics such changes as: presence of mosaicism, presence of chromosomal aberrations in the telomers regions and also additional fragments of chromosomes or chromosomal markers identification. Owing that the investigative hypothesis had been rejected. In support of cytomolecular and moleculaa results it can be suppose that received diagnostic algorithm leaning on sQF - PCR method can be the alternative to the cytomolecular FISH procedure, especially in case when isolated DNA in the only available research material.
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Last modified:
Mar 14, 2023
In our library since:
Jun 27, 2022
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http://dl.cm-uj.krakow.pl:8080/publication/4764
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| Edition name | Date |
|---|---|
| ZB-114725 | Mar 14, 2023 |
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