Petra Musilova

Publications (10)30.39 Total impact

• Source

  Available from: Petra Prinosilova

  Article: Sperm and embryo analysis of similar t(7;10) translocations transmitted in two families.

  Miluse Vozdova, Eva Oracova, Petra Musilova, Katerina Kasikova, Petra Prinosilova, Renata Gaillyova, Jiri Rubes
  [show abstract] [hide abstract]
  ABSTRACT: To compare the sperm meiotic segregation profiles in two men from families with similar t(7;10) translocations and determine the frequency of unbalanced sperm and preimplantation embryos in one couple. Analysis of sperm nuclei and blastomeres by fluorescence in situ hybridization (FISH). Research institute. Carriers of balanced translocations t(7;10)(q34;q24) and t(7;10)(q36;q24.3). Multicolor FISH using probes for chromosomes 7, 10, 8, 18, 21, X, and Y on sperm and preimplantation genetic diagnosis (PGD) of blastomeres. Frequencies of meiotic segregation products in sperm and blastomeres and sperm aneuploidy of chromosomes 8, 18, 21, X, and Y. Similar meiotic segregation patterns, with preferential alternate segregation (50.6% in patient P1, 48.1% in P2) followed by adjacent 1, adjacent 2 and 3:1 segregations, were observed in the sperm of the two carriers. An interchromosomal effect on the sex chromosomes was found when compared with disomy frequencies reported in control donors. The results of preimplantation genetic diagnosis in the first couple are roughly consistent with the sperm analysis results. Carriers of similar translocations show similar segregation profiles. The in vitro fertilization method accompanied by preimplantation genetic diagnosis increases the chance of translocation carriers fathering a healthy child.
  Fertility and sterility 05/2011; 96(1):e66-70. · 3.97 Impact Factor
• Source

  Available from: Michal Jeseta

  Article: Frequency of aneuploidy related to age in porcine oocytes.

  Miroslav Hornak, Michal Jeseta, Petra Musilova, Antonin Pavlok, Michal Kubelka, Jan Motlik, Jiri Rubes, Martin Anger
  [show abstract] [hide abstract]
  ABSTRACT: It is generally accepted that mammalian oocytes are frequently suffering from chromosome segregation errors during meiosis I, which have severe consequences, including pregnancy loss, developmental disorders and mental retardation. In a search for physiologically more relevant model than rodent oocytes to study this phenomenon, we have employed comparative genomic hybridization (CGH), combined with whole genome amplification (WGA), to study the frequency of aneuploidy in porcine oocytes, including rare cells obtained from aged animals. Using this method, we were able to analyze segregation pattern of each individual chromosome during meiosis I. In contrast to the previous reports where conventional methods, such as chromosome spreads or FISH, were used to estimate frequency of aneuploidy, our results presented here show, that the frequency of this phenomenon was overestimated in porcine oocytes. Surprisingly, despite the results from human and mouse showing an increase in the frequency of aneuploidy with advanced maternal age, our results obtained by the most accurate method currently available for scoring the aneuploidy in oocytes indicated no increase in the frequency of aneuploidy even in oocytes from animals, whose age was close to the life expectancy of the breed.
  PLoS ONE 01/2011; 6(4):e18892. · 4.09 Impact Factor
• Source

  Available from: PubMed Central

  Article: Ingraft chimerism in lung transplantation--a study in a porcine model of obliterative bronchiolitis.

  Outi E Päiväniemi, Petra Musilova, Peter M Raivio, Paula K Maasilta, Hanni S Alho, Jiri Rubes, Kristiina Aittomäki, Ulla-Stina Salminen
  [show abstract] [hide abstract]
  ABSTRACT: Bronchial epithelium is a target of the alloimmune response in lung transplantation, and intact epithelium may protect allografts from rejection and obliterative bronchiolitis (OB). Herein we study the influence of chimerism on bronchial epithelium and OB development in pigs. A total of 54 immunosuppressed and unimmunosuppressed bronchial allografts were serially obtained 2-90 days after transplantation. Histology (H&E) was assessed and the fluorescence in situ hybridization (FISH) method for Y chromosomes using pig-specific DNA-label was used to detect recipient derived cells in graft epithelium and bronchial wall, and donor cell migration to recipient organs. Ingraft chimerism was studied by using male recipients with female donors, whereas donor cell migration to recipient organs was studied using female recipients with male donors. Early appearance of recipient-derived cells in the airway epithelium appeared predictive of epithelial destruction (R=0.610-0.671 and p<0.05) and of obliteration of the bronchial lumen (R=0.698 and p<0.01). All allografts with preserved epithelium showed epithelial chimerism throughout the follow-up. Antirejection medication did not prevent, but delayed the appearance of Y chromosome positive cells in the epithelium (p<0.05), or bronchial wall (p<0.05). In this study we demonstrate that early appearance of Y chromosomes in the airway epithelium predicts features characteristic of OB. Chimerism occurred in all allografts, including those without features of OB. Therefore we suggest that ingraft chimerism may be a mechanism involved in the repair of alloimmune-mediated tissue injury after transplantation.
  Respiratory research 01/2011; 12:56. · 3.36 Impact Factor
• Article: Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report.

  Gabriela Tauwinklova, Renata Gaillyova, Pavel Travnik, Eva Oracova, Katerina Vesela, Lenka Hromadova, Jan Vesely, Petra Musilova, Jiri Rubes, Jitka Kadlecova, Iva Slamova, Eva Makaturova, Vladimira Vranova
  [show abstract] [hide abstract]
  ABSTRACT: to report a case of monozygotic monochorial diamniotic twins with discordant karyotypes. the pregnancy was achieved following a treatment cycle with intracytoplasmic sperm injection (ICSI) and preimplantation genetic screening (PGS) for chromosomes X, Y, 13, 16, 18, 21, 22. One embryo euploid for studied chromosomes was transferred. Prenatal ultrasonography revealed monozygotic twins. One fetus had growth retardation, multiple organ abnormalities and polyhydramnion. The other twin had normal ultrasound appearance. Delivery on week 29 of gestation resulted in the birth of two females, a stillborn twin with karyotype 45,XX,-13[12]/46,XX,r(13)[3] and a healthy twin with normal karyotype. the discordance in the twins' karyotypes originated from a mosaic embryo. Structural chromosomal abnormality of the affected twin could not be revealed using standard PGS investigation. Embryo splitting occurred probably due to apoptotic process in an early stage of embryo development. Apoptosis represents one of the possible mechanisms which can explain the embryo twinning process globally.
  Journal of Assisted Reproduction and Genetics 11/2010; 27(11):649-55. · 1.84 Impact Factor
• Article: Karyotypic relationships in Asiatic asses (kulan and kiang) as defined using horse chromosome arm-specific and region-specific probes.

  Petra Musilova, Svatava Kubickova, Petr Horin, Roman Vodicka, Jiri Rubes
  [show abstract] [hide abstract]
  ABSTRACT: Cross-species chromosome painting has been applied to most of the species making up the numerically small family Equidae. However, comparative mapping data were still lacking in Asiatic asses kulan (Equus hemionus kulan) and kiang (E. kiang). The set of horse arm-specific probes generated by laser microdissection was hybridized onto kulan (E. hemionus kulan) and kiang (E. kiang) chromosomes in order to establish a genome-wide chromosomal correspondence between these Asiatic asses and the horse. Moreover, region-specific probes were generated to determine fusion configuration and orientation of conserved syntenic blocks. The kulan karyotype (2n = 54) was ascertained to be almost identical to the previously investigated karyotype of onager E. h. onager (2n = 56). The only difference is in fusion/fission of chromosomes homologous to horse 2q/3q, which are involved in chromosome number polymorphism in many Equidae species. E. kiang karyotype differs from the karyotype of E. hemionus by two additional fusions 8q/15 and 7/25. Chromosomes equivalent to 2q and 3q are not fused in kiang individuals with 2n = 52. Several discrepancies in centromere positions among kulan, kiang and horse chromosomes have been described. Most of the chromosome fusions in Asiatic asses are of centromere-centromere type. Comparative chromosome painting in kiang completed the efforts to establish chromosomal homologies in all representatives of the family Equidae. Application of region-specific probes allows refinement comparative maps of Asiatic asses.
  Chromosome Research 10/2009; 17(6):783-90. · 3.09 Impact Factor
• Article: Sperm and embryo analysis in a carrier of supernumerary inv dup(15) marker chromosome.

  Eva Oracova, Petra Musilova, Olga Kopecna, Roman Rybar, Miluse Vozdova, Katerina Vesela, Jiri Rubes
  [show abstract] [hide abstract]
  ABSTRACT: We identified a small, paternally inherited, supernumerary marker chromosome, inv dup(15), in a phenotypically normal and normozoospermic male from a couple with reproductive problems. Sperm analysis by fluorescence in situ hybridization (FISH) showed that the marker was present in 26% of sperm nuclei. The disomy 15 was 10 times higher than in normal control donors. FISH analysis for aneuploidies of the other chromosomes showed an increase in nondisjunction of chromosome 21. We also examined 24 embryos by preimplantation genetic diagnosis, and 10 embryos (41.7%) contained the marker. This report provides information about inheritance of inv dup(15) from a male carrier.
  Journal of Andrology 01/2009; 30(3):233-9. · 2.97 Impact Factor
• Article: Hybridization of the 18 alpha-satellite probe to chromosome 1 revealed in PGD.

  Petra Musilova, Roman Rybar, Eva Oracova, Katerina Veselá, Jiri Rubes
  [show abstract] [hide abstract]
  ABSTRACT: Although the chromosome 18 alpha-satellite probe is considered to have a very low polymorphism rate, the routine use of this probe in prenatal diagnosis revealed rare variants in size and copy number of these sequences. A polymorphic signal was detected in preimplantation genetic diagnosis (PGD) for aneuploidy, in a patient with repeated early miscarriages. A third small signal of chromosome 18 alpha-satellite probe was observed in two of four evaluated embryos. Hybridization to the woman's metaphasic lymphocytes revealed that the small signal was localized in the pericentromeric region of chromosome 1. Reanalysis of blastomeres with telomeric probes for chromosome 18q confirmed the presence of only two copies of chromosome 18. Options for verifying PGD analysis results, to prevent misdiagnosis in cases of suspected polymorphism, are discussed. Although some authors speculate about a possible role of heterochromatin polymorphism in infertility, this rare polymorphism of 18 alpha-satellite sequences is in itself probably a normal variant. This is the third report of a cross-hybridization of the chromosome 18 alpha-satellite probe and the first report of the localization of the polymorphic 18 alpha-satellite signal to chromosome 1.
  Reproductive biomedicine online 12/2008; 17(5):695-8. · 2.04 Impact Factor
• Article: Possible genetic damage in the Czech nuclear power plant workers.

  Radim J Sram, Pavel Rössner, Jiri Rubes, Olena Beskid, Zdik Dusek, Irena Chvatalova, Jana Schmuczerova, Alena Milcova, Ivo Solansky, Hana Bavorova, Dana Ocadlikova, Olga Kopecna, Petra Musilova
  [show abstract] [hide abstract]
  ABSTRACT: The aim of our study was to identify occupational risk of irradiation exposure in the Czech nuclear power plant workers. We analyzed levels of chromosomal aberrations, a well-known biomarker of early biological effects and a predictor of cancer risk. We applied the conventional method of cytogenetic analysis and fluorescence in situ hybridization (FISH, whole chromosome painting for chromosomes 1 and 4, combined with a pancentromeric probe) to three groups: 123 subjects in the Temelin nuclear power plant (2 years in use), 114 subjects in the Dukovany nuclear power plant (20 years in use), and 53 matched controls from Ceske Budejovice. Nuclear power plant workers were divided into two groups: subjects with admittance into the monitored zone, and others. Following factors were also analyzed: GSTM1, GSTT1, GSTP1, XPD, XRCC1, hOGG1, p53, MTHFR, and MS gene polymorphisms, levels of vitamins A, C, E, and folate in plasma, and level of cotinine in urine. Long-term exposure to ionizing radiation in the monitored zone was 0.47+/-1.50 mSv (miliSievert) in the Temelin nuclear power plant and 5.74+/-9.57 mSv in the Dukovany nuclear power plant. Using the conventional cytogenetic analysis, we observed 1.90+/-0.95 and 1.82+/-1.19% AB.C. (percent of aberrant cells) in the Temelin nuclear power plant, and 2.39+/-1.01 and 2.33+/-1.04% AB.C. in the Dukovany nuclear power plant, for monitored zone workers and others, respectively. In the control group, we found 2.25+/-0.82% AB.C. Genomic frequency of translocations F(G)/100 measured by FISH was 1.89+/-1.40 and 2.01+/-1.68 in the Temelin nuclear power plant, and 2.48+/-1.93 and 2.14+/-1.62 in the Dukovany nuclear power plant for monitored zone workers and others, respectively. In the control group, F(G)/100 was 1.83+/-1.19. Following factors were identified as potential confounders by the conventional cytogenetic analysis: XPD-6, by the FISH: age, GSTP1 and p53Bst genotypes, long-term use of medication, alcohol consumption, and smoking. No association between the dose of irradiation and the level of chromosomal aberrations in any nuclear power plant was detected either by the conventional cytogenetic analysis or by FISH.
  Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 02/2006; 593(1-2):50-63. · 2.85 Impact Factor
• Article: Assignment of chromosome rearrangements between X chromosomes of human and cattle by laser microdissection and Zoo-FISH.

  Jiri Rubes, Svatava Kubickova, Petra Musilova, M Elisabete Amaral, Ronald M Brunner, Tom Goldammer
  [show abstract] [hide abstract]
  ABSTRACT: Cross-species fluorescence in-situ hybridization (Zoo-FISH) was performed on cattle metaphase spreads using Homo sapiens X chromosome (HSAX) painting probes specific for the p- and q-arms to identify the cytogenetic location of a chromosome breakpoint between HSAX and the Bos taurus X chromosome (BTAX). The existence of a breakpoint is strongly suggested by recent radiation hybrid and FISH mapping results. Hybridization probes were generated by microdissection of HSAX p- and q-arms using the contact-free technology of Laser Microdissection and Pressure Catapulting (LMPC), amplification of the isolated chromosome material by DOP-PCR, and labelling of the PCR products with digoxigenin in a secondary PCR. Independent Zoo-FISH of the two painting probes on bovine metaphase chromosomes (detected by antidigoxigenin-fluorescein) resulted in clear hybridization signals on BTAX. A breakpoint was identified between HSAXp and HSAXq on BTAX, and narrowed down between the G-bands BTAXq25 and BTAXq26. The assumed centromere transposition between HSAX and BTAX associated with the rearranged chromosome segments is supported by cytogenetic assignments of the genes BGN and G6PD to BTAX.
  Chromosome Research 02/2005; 13(6):569-74. · 3.09 Impact Factor
• Article: The use of laser microdissection for the preparation of chromosome-specific painting probes in farm animals.

  Svatava Kubickova, Halina Cernohorska, Petra Musilova, Jiri Rubes
  [show abstract] [hide abstract]
  ABSTRACT: Laser microbeam microdissection and laser pressure catapulting procedure were used for the construction of chromosome-specific painting probes, arm-specific probes and probes for chromosomal subfragments. We report on a method for generation of fluorescence in-situ hybridization probes from laser dissected chromosomes of farm animals. So far, using the described method, a set of chromosome-specific painting probes has been obtained for all porcine chromosomes, 17 chromosomes of cattle and selected equine chromosomes. It is concluded that the laser technology appears to be a useful and powerful tool for the construction of chromosome-specifi c painting probes. Its main advantage is the fast non-contact collection of chromosomes.
  Chromosome Research 02/2002; 10(7):571-7. · 3.09 Impact Factor