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Utilisation of molecular cytogenetic techniques in productive genetics
Paulasová, Petra ; Macek, Milan (advisor) ; Korabečná, Marie (referee) ; Vodička, Radek (referee)
Title.: Utilisation of molecular cytogenetic techniques in reproductive genetics Chromosomal abnormalities constitute one of the most important causes of birth defects, fertilization failure and/or human infertility. Approximately, 40-50% of human conceptuses are chromosomally abnormal, 6% of the abortions during the first trimester of gestation are directly linked to chromosomal abnormality, while at term 0.6% of livebirths present with such features. Most of these abnormalities originate from the gametogenesis and arise through disturbed meiotic processes. Each gamete is a final and original product of the meiosis carrying a unique chromosomal set. Therefore, cytogenetic examination of individual gametes represents an important scientific challenge for our undrstandidng of the formation, incidence and etiology of aforementioned chromosomal abnormalities. Nonetheless, it is very technically demanding to perform efficient chromosomal investigation on gametes, hence single cells. My Ph.D. thesis is focused on the development of new techniques for the detection of chromosomal abnormalities in gametes and embryos. We developed a PNA-based technique as an alternative to conventional FISH and PRINS-based methods for fast, efficient and robust in situ detection of chromosomal abnormalities in human...
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Utilisation of molecular cytogenetic techniques in productive genetics
Paulasová, Petra
Title.: Utilisation of molecular cytogenetic techniques in reproductive genetics Chromosomal abnormalities constitute one of the most important causes of birth defects, fertilization failure and/or human infertility. Approximately, 40-50% of human conceptuses are chromosomally abnormal, 6% of the abortions during the first trimester of gestation are directly linked to chromosomal abnormality, while at term 0.6% of livebirths present with such features. Most of these abnormalities originate from the gametogenesis and arise through disturbed meiotic processes. Each gamete is a final and original product of the meiosis carrying a unique chromosomal set. Therefore, cytogenetic examination of individual gametes represents an important scientific challenge for our undrstandidng of the formation, incidence and etiology of aforementioned chromosomal abnormalities. Nonetheless, it is very technically demanding to perform efficient chromosomal investigation on gametes, hence single cells. My Ph.D. thesis is focused on the development of new techniques for the detection of chromosomal abnormalities in gametes and embryos. We developed a PNA-based technique as an alternative to conventional FISH and PRINS-based methods for fast, efficient and robust in situ detection of chromosomal abnormalities in human...
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Utilisation of molecular cytogenetic techniques in productive genetics
Paulasová, Petra ; Macek, Milan (advisor) ; Korabečná, Marie (referee) ; Vodička, Radek (referee)
Title.: Utilisation of molecular cytogenetic techniques in reproductive genetics Chromosomal abnormalities constitute one of the most important causes of birth defects, fertilization failure and/or human infertility. Approximately, 40-50% of human conceptuses are chromosomally abnormal, 6% of the abortions during the first trimester of gestation are directly linked to chromosomal abnormality, while at term 0.6% of livebirths present with such features. Most of these abnormalities originate from the gametogenesis and arise through disturbed meiotic processes. Each gamete is a final and original product of the meiosis carrying a unique chromosomal set. Therefore, cytogenetic examination of individual gametes represents an important scientific challenge for our undrstandidng of the formation, incidence and etiology of aforementioned chromosomal abnormalities. Nonetheless, it is very technically demanding to perform efficient chromosomal investigation on gametes, hence single cells. My Ph.D. thesis is focused on the development of new techniques for the detection of chromosomal abnormalities in gametes and embryos. We developed a PNA-based technique as an alternative to conventional FISH and PRINS-based methods for fast, efficient and robust in situ detection of chromosomal abnormalities in human...
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Utilisation of molecular cytogenetic techniques in productive genetics
Paulasová, Petra
Title.: Utilisation of molecular cytogenetic techniques in reproductive genetics Chromosomal abnormalities constitute one of the most important causes of birth defects, fertilization failure and/or human infertility. Approximately, 40-50% of human conceptuses are chromosomally abnormal, 6% of the abortions during the first trimester of gestation are directly linked to chromosomal abnormality, while at term 0.6% of livebirths present with such features. Most of these abnormalities originate from the gametogenesis and arise through disturbed meiotic processes. Each gamete is a final and original product of the meiosis carrying a unique chromosomal set. Therefore, cytogenetic examination of individual gametes represents an important scientific challenge for our undrstandidng of the formation, incidence and etiology of aforementioned chromosomal abnormalities. Nonetheless, it is very technically demanding to perform efficient chromosomal investigation on gametes, hence single cells. My Ph.D. thesis is focused on the development of new techniques for the detection of chromosomal abnormalities in gametes and embryos. We developed a PNA-based technique as an alternative to conventional FISH and PRINS-based methods for fast, efficient and robust in situ detection of chromosomal abnormalities in human...
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