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New Aneuploidy Ultrasound Markers in First Trimester of Pregnancy
Břešťák, Miroslav ; Calda, Pavel (advisor) ; Kacerovský, Marian (referee) ; Baxová, Alice (referee)
Prenatal diagnostics is headed in several directions - towards visualization of fetuses and biochemical, cytogenetic and molecular genetic diagnostics in laboratories. Whereas visualization of fetuses does not a priori represent any direct risk for pregnancy and does not increase the number of potential pregnancy complications, this is not always the case with the laboratory testing. There are known risks connected with invasive methods of prenatal diagnostics. The number of potential unintentional pregnancy complications and losses as well as the technical and economic aspects of invasive prenatal diagnostics lead to attempts of identifying ways of detecting any potentially affected individuals by screening methods, thus minimizing the undesirable impact of invasive diagnostics on the pregnant population. The more precise the selective criteria, the lesser the number of pregnant women exposed to invasive exams. Another way of decreasing the number of unintentional complications in relation to invasive diagnostics is to simplify and improve the fetal samples harvesting methods during pregnancy. The work primarily focused on two areas: Determination of the relation between fraction shortening of the left and right ventricles and a fetal chromosomal complement, and verification of reliability of a new method...
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New Aneuploidy Ultrasound Markers in First Trimester of Pregnancy
Břešťák, Miroslav ; Calda, Pavel (advisor) ; Kacerovský, Marian (referee) ; Baxová, Alice (referee)
Prenatal diagnostics is headed in several directions - towards visualization of fetuses and biochemical, cytogenetic and molecular genetic diagnostics in laboratories. Whereas visualization of fetuses does not a priori represent any direct risk for pregnancy and does not increase the number of potential pregnancy complications, this is not always the case with the laboratory testing. There are known risks connected with invasive methods of prenatal diagnostics. The number of potential unintentional pregnancy complications and losses as well as the technical and economic aspects of invasive prenatal diagnostics lead to attempts of identifying ways of detecting any potentially affected individuals by screening methods, thus minimizing the undesirable impact of invasive diagnostics on the pregnant population. The more precise the selective criteria, the lesser the number of pregnant women exposed to invasive exams. Another way of decreasing the number of unintentional complications in relation to invasive diagnostics is to simplify and improve the fetal samples harvesting methods during pregnancy. The work primarily focused on two areas: Determination of the relation between fraction shortening of the left and right ventricles and a fetal chromosomal complement, and verification of reliability of a new method...
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The increased diagnostic efficiency of QF-PCR for aneuploidy of amniotic fluid
Sedláková, Zdeňka ; Macek, Milan (advisor) ; Daňková, Pavlína (referee)
Quantitative fluorescence polymerase chain reaction (QF-PCR) is a molecular genetic method based on the amplification of microsatellites (Short tandem repeats, STR) and measurement of the peak heights of amplicons in the electropherogram. Currently, the QF-PCR deemed reliable, fast, and inexpensive method that is gradually replacing conventional cytogenetic analysis of aneuploidy (examination of long-term cultures of amniotic fluid). However, in certain cases it is impossible to determine the parental origin and meiotic aneuploidy by QF-PCR. The aim of this work was to verify the new dinucleotide STR markers on chromozomes 13, 16, 18, 21, and 22 and further increase the diagnostic efficiency of QF-PCR retaining other STR markers on chromozome 15, 16, 22 and to determine the population and the analytical characteristics of these markers. For all dinucleotide STR markers stutter occurred in high frequency and therefore there were found not to be suitable for routine diagnostics. STR markers for chromozomes 15, 16 and 22 were tested on 100 patients. We selected four informative markers for both chromozome 16 and 22, and three markers for chromozome 15. Thus, I expanded set of diagnostic STR markers in this thesis.
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Molecular genetic characterization of the rare tumours of the urogenital tract.
Šteiner, Petr ; Vaněček, Tomáš (advisor) ; Španielová, Hana (referee)
The aim of this study was molecular characterization of four types of renal tumours (papillary renal cell carcinoma [PRCC], tubulocystic renal carcinoma [TCRC], pseudorossette forming renal carcinoma [PRRC] and unclassified renal carcinomas [URC]) and two types of rare tumours of the testes (Adult type of granulosa cell tumours [ATGCTs] and Incompletely differentiated sex cord stromal tumours [ISCSTs]). In case of TCRC the activity of signalling pathways involved in angiogenesis was studied. The aim was to determine the suitability of antiangiogenic agents for treatment of TCRC. Next, the methylation profile of 24 tumor suppressor genes was studied in TCRC and PRCC in order to analyze their similarity. Eventual differences could be helpful tool in differential diagnostics. Also, spectrum of chromosomal aberrations was analyzed by array-CGH in one case of PRRC and two cases of URC. Any unique aberration found would be useful in differential diagnostics of these tumors. Last, but not least, the specificity of mutation c.402C>G of FOXL2 gene for ovarian ATGCTs was verified by studying its occurrence in testicular ATGCTs and ISCSTs. Analysis of mRNA levels did not reveal any enhanced activity of the studied signalling pathways. Cluster analysis of methylation profiles showed close relationship between PRCC a...
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Analysis of chromosomal aberrations in sperm by fluorescence in situ hybridization
Bendová, Petra ; Diblík, Jan (advisor) ; Novotná, Drahuše (referee)
The presented bachelor work is focused on the determination of frequency chromosomally abnormal sperm in the semen of healthy men (donors) with normal karyotype (46, XY). The important process, which plays an irreplaceable role in the development of numerical aberrations of chromosomes or structural abnormalities in the segregation of the gametes, is meiosis. Therefore, I devote much attention on meiosis in the theoretical part. The theoretical part is focused on the process of pre mature sperm (spermatogenesis), and the consequences of fertilize the oocyte by aneuploid sperm. In my work I present an overview of numerical abnormalities in autosomes and gonosomes and their frequency and distribution of gametes in healthy men. I also focused on the distribution and a brief description of structural aberrations affecting chromosomes and not least I paid attention on method of multicolor interphase fluorescence in situ hybridization, which in combination with sperm chromatin dekondenzation become irreplaceable and valuable research tool for rapid analysis of chromosomal abnormalities in large sperm samples. The experimental part of bachelor work deals with monitoring the frequency of selected numerical abnormalities in sperm samples of five donors aged 23 to 30 years with the use of I-FISH (fluorescence in situ...
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Giardia intestinalis karyotypes
Hudosová, Lenka ; Nohýnková, Eva (advisor) ; Král, Jiří (referee)
Giardia intestinalis is a parasitic protist that causes one of the most common diarrheal disease of parasite origin. The cell of Giardia contains two nuclei with unknown number of chromosomes until recently. Karyotype was determined five years ago using conventional cytogenetic method by Tůmová and collaborators. In my work, I assessed karyotype of four isolates, six lines and three clonal lines by the same method. It was confirmed, that two nuclei within one cell could differ in chromosome number, the differences found were 1, 2 or 6 chromosomes. Aneuploid number of chromosomes was found too. In case that both nuclei within single cell contained the same number of chromosomes, there were 10 chromosomes indentified in each nucleus. It was also revealed, that karyotype is not specific feature for different genetic groups (in this work assemblages A and E). Karyotype can be different even among lines and clonal populations derived from the same isolate. Changes in karyotype in the course of in vitro cultivation were detected within three populations. Results are discussed in relation to known facts.
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Application for the Data Processing in the Area of Evolutionary Biology
Radakovič, Lukáš ; Burgetová, Ivana (referee) ; Očenášek, Pavel (advisor)
This Bachelor’s thesis describes the design and implementation of the application that has the task to verify the accuracy of the algorithm. Purpose of the algorithm is to analyze mechanisms used in the creation of the phylogenetic tree. The application allows users to specify different parameters of phylogenetic tree, its generation and subsequent analysis using an algorithm. Results of the analysis are written to the output file, giving the user the option of setting file path. Studied algorithm correctly estimates the participation of specific mechanism in the tree formation. Estimates of the absolute and relative share of changes in chromosome number and genome size are less than accurate results.
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Using of aCGH method in preimplantation genetic diagnostics
PITTROVÁ, Monika
Preimplantation genetic analysis allows testing embryos produced by in vitro fertilisation before their transfer into the uterus. Preimplantation genetic analysis can be performed as screening of random aneuploidies (PGS) or targeted diagnosis of familial chromosomal aberrations or monogenic diseases (PGD) or combination of both approaches (PGD/PGS). Preimplantation genetic testing is appropriate for wide spectre of patients undregoing human assisted reproduction treatment. Array comparative genomic hybridization (aCGH) is sensitive and high throughput method for detection of chromosomal copy number changes on whole embryonal genome, therefore allows performing screening of random aneuploidies (PGS) in combination with diagnosis of unbalanced chromosomal familial aberrations (PGD/PGS). The data for this study were obtained from Genetic Laboratory IVF Zentren Prof. Zech in Pilsen during 2014. The results of 469 examined embryonal samples resulting from 98 clients were analysed. All biopsies of trophectoderm cells were performed on blastocyst stage. All embryonal samples underwent whole genome amplification (WGA) and were processed using 24sure microarrays (BlueGnome). PGS was performed for 366 embryos in total and combined analysis including PGS and PGD was performed for 103 embryos. An average maternal age at the time of analysis was 40,5. This study demonstrates that there is significantly higher rate of aneuploidy in patients of higher maternal age. A suitability of PGS for older patients was confirmed. In other groups of patients containing IVF cycles with donated oocytes or patients carrying familial chromosomal aberrations a higher profit of fertility treatment was observed.
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