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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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The Role of Energetic Metabolism in the t-haplotype Transmission ratio distortion
Marvanová, Hana ; Paulasová, Petra (advisor) ; Pěknicová, Jana (referee)
When two alleles carried by a heterozygote are transmitted unequally to the zygote at the time of fertilization, transmission ratio distortion occurs. The best studied example of this phenomenon in mammals is t-haplotype in mice. The mouse t-haplotype is a selfish variant region on chromosome 17, in nature transmitted as a unit. Male mice homozygous for t haplotype are sterile, but heterozygotes transmit the t haplotype up to 99% of their progeny. This is believed to be caused by motility differences between sperm carrying the t haplotype and wild-type sperm from the same heterozygous male. The concrete mechanism of the postulated sperm competition in favour of t haplotype carrying sperm was so far not fully illuminated. During this project, we worked with the hypothesis that the differences in sperm motility putatively responsible for transmission ratio distortion are triggered, at least in part, by metabolic causes. Our results from ATP and mitochondrial membrane potential (MMP) comparison indeed suggest that there are metabolic dissimilarities in sperm from the different genotypes of t (t/t, t/+, +/+). Specifically, our data show that there is significantly less ATP in t/t sperm when compared to the other two genotypes. Likewise, sperm from t/t mice also seem to have lower MMP, suggesting that...
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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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The Role of Energetic Metabolism in the t-haplotype Transmission ratio distortion
Marvanová, Hana ; Paulasová, Petra (advisor) ; Pěknicová, Jana (referee)
When two alleles carried by a heterozygote are transmitted unequally to the zygote at the time of fertilization, transmission ratio distortion occurs. The best studied example of this phenomenon in mammals is t-haplotype in mice. The mouse t-haplotype is a selfish variant region on chromosome 17, in nature transmitted as a unit. Male mice homozygous for t haplotype are sterile, but heterozygotes transmit the t haplotype up to 99% of their progeny. This is believed to be caused by motility differences between sperm carrying the t haplotype and wild-type sperm from the same heterozygous male. The concrete mechanism of the postulated sperm competition in favour of t haplotype carrying sperm was so far not fully illuminated. During this project, we worked with the hypothesis that the differences in sperm motility putatively responsible for transmission ratio distortion are triggered, at least in part, by metabolic causes. Our results from ATP and mitochondrial membrane potential (MMP) comparison indeed suggest that there are metabolic dissimilarities in sperm from the different genotypes of t (t/t, t/+, +/+). Specifically, our data show that there is significantly less ATP in t/t sperm when compared to the other two genotypes. Likewise, sperm from t/t mice also seem to have lower MMP, suggesting that...
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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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