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Molecular genetic approaches used in preimplantation genetic analysis of human embryos in assisted reproduction
Limbergová, Jana ; Machoň, Ondřej (advisor) ; Šimoník, Ondřej (referee)
Preimplantation genetic testing is one of the main clinical procedures that take place in assisted reproduction centres around the world. It is sought after by couples for many different reasons. The causes of problems may relate to hereditary diseases that potential parents do not wish to pass on to their offspring, or may include the risk of transmission of chromosomal alterations. In addition, infertility may be caused by an increased risk of embryo aneuploidy, which correlates with mother's increased age and other factors that this bachelor thesis discusses. The bachelor thesis also focuses on up-to-date approaches to cytogenetic examinations for reproductive genetics and discusses recent clinical molecular methods that are used to improve the diagnosis and therapy of infertile couples. These are, for example, microarray methods, quantitative real-time PCR or next-generation sequencing and methods of whole-genome amplification. This work also summarizes methods that are gradually being abandoned, e.g. fluorescent in situ hybridization, and compares their advantages and disadvantages. Key words: preimplantation genetic testing, aneuploidy, structural rearrangements, monogenic diseases, biopsy, fluorescent in situ hybridization, microarray methods, comparative genomic hybridization, quantitative...
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Development of new molecular genetic aproaches in assisted reproductive technology
Limbergová, Jana ; Machoň, Ondřej (advisor) ; Šimoník, Ondřej (referee)
Preimplantation genetic testing is one of the major clinical procedures that takes place in centres of assisted reproduction all around the world. It is sought out by couples for many reasons discussed in this paper. The causes of couples' arrival to the centres might vary from inherited diseases that future parents do not wish to transfer to their offspring to the risk of transfer of chromosomal structural rearrangements. What's more, infertility might be caused by the greater risk of aneuploidy in embryos which correlates with higher maternal age and other factors. This paper also focuses on new approaches in cytogenetic examinations for reproductive medicine. Furthermore, it discusses clinical methods used to improve diagnosis and treatment of infertile couples and experimental methods that could become the base of new diagnostic tools. These are for example single nucleotide polymorphism methods, array-based methods, new generation sequencing and whole genome amplifications. It also looks back at methods that became old-fashioned, just like for example fluorescent in situ hybridisation, and states its pros and cons. Key words: preimplantation genetic testing, aneuploidy, structural rearrangements, monogenic diseases, biopsy
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