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Molecular Genetic Analysis in Patients Suspected of Cryptic Rearrangements.
Šolc, Roman ; Hirschfeldová, Kateřina (advisor) ; Vícha, Aleš (referee)
Such chromosomal rearrangements, which cannot be detected by using of cytogenetic banding of metaphase chromosomes, i.e. chromosomes smaller than 3 - 5 Mb, and therefore modern molecular genetic methods are used to detect them, are called "cryptic rearrangements". Their important role in human pathology is more and more significant. By using of the multiplex ligation-probe dependent amplification method (MLPA) we examined a group of 50 probands with idiopathic mental retardation. A cryptic rearrangement was found at 8 probands (16 %), at 6 of them it was demonstrably causal. Then we examined a group of 40 probands suspected of gene SHOX pathology. A cryptic rearrangement was found at 17 probands (42.5 %) and at 8 of them it was demonstrably causal. Presence of small deletion founded isolated at 7 probands was verified in a population set, but without a positive result. An analysis of mutations was made too.
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Methods of molecular cytogenetics: evolution, analysis, comparison
Budková, Kateřina ; Šolc, Roman (advisor) ; Daňková, Pavlína (referee)
Cytogenetics is a branch of genetics that is concerned with the study of the structure and function of chromosomes, especially during the cell division. Chromosomal abnormalities that may occur during this process are often associated with the emergence of various diseases. Cytogenetic methods are primarily used to detect these abnormalities. Traditional methods allow resolution at the level of whole chromosomes, the introduction of new molecular methods led to a significant refinement of these analyzes. Today's methods allow easy analysis of chromosomes to the level of individual sequences. Despite significant differences between classical and modern cytogenetic techniques, classical cytogenetic methods are not evil, but they are still widely used. Combining classical and molecular methods in order to obtain a comprehensive analysis of chromosomal rearrangements is no exception.
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Molecular Genetic Analysis in Patients Suspected of Cryptic Rearrangements.
Šolc, Roman ; Hirschfeldová, Kateřina (advisor) ; Vícha, Aleš (referee)
Such chromosomal rearrangements, which cannot be detected by using of cytogenetic banding of metaphase chromosomes, i.e. chromosomes smaller than 3 - 5 Mb, and therefore modern molecular genetic methods are used to detect them, are called "cryptic rearrangements". Their important role in human pathology is more and more significant. By using of the multiplex ligation-probe dependent amplification method (MLPA) we examined a group of 50 probands with idiopathic mental retardation. A cryptic rearrangement was found at 8 probands (16 %), at 6 of them it was demonstrably causal. Then we examined a group of 40 probands suspected of gene SHOX pathology. A cryptic rearrangement was found at 17 probands (42.5 %) and at 8 of them it was demonstrably causal. Presence of small deletion founded isolated at 7 probands was verified in a population set, but without a positive result. An analysis of mutations was made too.
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