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Genetic analysis mental retardation by FISH method
KRŮČKOVÁ, Adéla
The bachelor thesis entitled Analysis of genetic causes of mental retardation by FISH method deals with different types of mental retardation. The first part of the thesis deals with mental retardations as a whole. It focuses on the classification of mental retardations and the causes of mental retardation. The next part focuses on specific types of mental retardation. These are mainly mental retardations that are caused by microdeletions on human chromosome 22. Examples of these are, for example, Wiliams-Beuren syndrome or Angelman syndrome. In addition, one syndrome is mentioned which is not a microdeletion, but instead involves the multiplication of part of a chromosome. This is the cat's eye syndrome. In the theoretical part, the focus is mainly on the 22q11.2 deletion syndrome or DiGeorge syndrome and the Phelan McDermid syndrome or 22q13.3 deletion syndrome. In the last part of the research of this bachelor thesis, attention is drawn to the method by which mental retardation can be investigated. This is the method of FISH or fluorescence in situ hybridisation. The practical part of the bachelor thesis, as mentioned above, focuses on the detection of the 22q11.2 deletion syndrome and the 22q13.3 deletion syndrome. The material for these samples was provided by twenty anonymous probands suffering from some intellectual disability. However, the exact diagnosis is not known to us. The samples were analysed by FISH and then observed under a fluorescence microscope. The most common microdeletion syndrome, deletion 22q11.2, was found in one proband. In contrast, the very rare microdeletion syndrome 22q13.3 was not detected in any proband.
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The significance of the parental origin of the affected chromosome in the development of microdeletion syndromes
Rašpličková, Tereza ; Šolc, Roman (advisor) ; Novotná, Drahuše (referee)
Microdeletion syndromes are complex diseases caused by loss of genetic information resulting from cryptic deletions which are smaller than 5 Mb. They are cause a large number of phenotypic features. Most common are developmental and mental retardations, various physical defects and abnormalities or behavior problems. It has been shown, that in some cases plays a role parental origin of affected chromosome in microdeletion syndrome. In Angelman, Prader-Willi and Beckwith-Wiedemann syndromes is unequal disability of chromosomes caused by genomic imprinting. The reasons for dominance disability of one parental chromosome in Cri du chat syndrome, monosomy 1p36 and Phelan-McDermid syndrome are different and the effect of genomic imprinting has not been confirmed. Key words: microdeletion, microdeletion syndromes, methylation, genomic imprinting
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Detection of submicroscopics aberrations using arrayCGH
HORÁKOVÁ, Pavla
This thesis addresses array CGH method (Comparative Genomic Hybridization on microarrays) and its use inprenatal and postnatal genetic diagnosis. The method used was to determine the chromosomal areas in which the number of copies of DNA sequences had changed. Localizations of the aberrations sites are not known in advance; the issue is that of all genomic screening. The method is used in suspected cases of microdeletion and microduplication syndromes. It may also be used in cases of patients with pathological phenotypic changes, but other methods have shown no change in genetic makeup. This thesis focuses on diagnosis in the prenatal period and investigates the causes of pathological symptoms in the postnatal diagnosis. Firstly, this thesis describes procedures in clinical cytogenetics and then it discusses submicroscopic changes. Secondly, the thesis looks into the array CGH method, explains its procedure and use, and evaluates and interpretates its results. Finally, the work statistically evaluates the array CGH data procured in the OLG department in Thomayrova hospital from 8/ 8 to 3/19. The array CGH method may be used to supplement routinely administered cytogenetic tests. It enables specialists to obtain more detailed information about the genetic material of an individual and examine the frequency of microdeletion and microduplication syndromes. The diagnosis and prognosis of patients may be determined based on the results.
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The significance of the parental origin of the affected chromosome in the development of microdeletion syndromes
Rašpličková, Tereza ; Šolc, Roman (advisor) ; Novotná, Drahuše (referee)
Microdeletion syndromes are complex diseases caused by loss of genetic information resulting from cryptic deletions which are smaller than 5 Mb. They are cause a large number of phenotypic features. Most common are developmental and mental retardations, various physical defects and abnormalities or behavior problems. It has been shown, that in some cases plays a role parental origin of affected chromosome in microdeletion syndrome. In Angelman, Prader-Willi and Beckwith-Wiedemann syndromes is unequal disability of chromosomes caused by genomic imprinting. The reasons for dominance disability of one parental chromosome in Cri du chat syndrome, monosomy 1p36 and Phelan-McDermid syndrome are different and the effect of genomic imprinting has not been confirmed. Key words: microdeletion, microdeletion syndromes, methylation, genomic imprinting
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Using MLPA method for determining unbalanced changes in genome
KŘÍHOVÁ, Miroslava
Unbalanced chromosomal structural changes are connected with the presence of supernumerary particular part of chromosome, or the chromosome is absenting. MLPA is a method based on PCR principal, which amplifies MLPA probes, not the target sequences. MLPA probes hybridize to target sequences and then ligate them. Only one pair of primers is used. In the theoretical part the MLPA method is presented. Additionally, other diagnostics method of clinical genetic are mentioned (for example PCR, FISH, Array CGH). Diseases caused by unbalanced chromosomal structural changes are disscused too. Mental retardation and BRCA 1, 2 mutation were the main topic. The experimental part took place in Molecular Biology and Genetics Laboratory in the hospital in České Budějovice. I did my experiments under professional care of Mgr. Ondřej Scheinost and his colleagues. The aim of using MLPA method was to diagnose BRCA 1, 2 gene, microdeletion syndroms or subtelomeric deletions. All procedures were done according to standards. The final part of my thesis is concerned on the results interpretation and their comparation with other methods. I also thought over different approach of statistical analysis in MLPA.
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