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1

The application of human band specific probe (HSA11p15) to identify a corresponding region in the porcine genome

100%
Rejduch B., Slota E., Kozubska-Sobocinska A.
Journal of Applied Genetics
|
2004
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vol. 45
|
issue 3
341-342
EN
The aim of this study was to analyse homology in the telomeric region of chromosome 11 in humans and a corresponding fragment in the porcine genome using the FISH technique. The human band specific probe (HSA 11p15) was used for hybridization with pig chromosomes. The obtained results showed strong signals on human chromosome 11p15, as well as pig chromosome 2p17. Some aspects of the similarity between the human and pig chromosome segments have been discussed.
2

Optimalization of fluorescence in situ hybridization conditions in mare oocytes and mouse embryos

100%
Bugno M., Jablonska Z., Slota E.
|
2009
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vol. 57
|
issue 1-2
49-55
EN
The aim of the study was to optimize hybridization conditions of molecular probes specific for X sex chromosomes of the domestic horse in mare oocyte chromosomes. Mare oocytes, recovered from slaughterhouse ovaries by scraping the granulosa layer, were cultured in vitro. Metaphase II mature oocytes were treated with hypotonic solution and fixed, followed by hybridization of themolecular probe specific for the X chromosome of the domestic horse. Hybridization of probes specific formouse heterosomes onmouse oocytes and early embryos was performed to verify the FISH technique. Of 438 oocytes analysed, 29% reached metaphase II. Despite many changes in the composition of hypotonic solutions and modification of the FISH protocol, the fluorescence signal was observed in mouse oocytes and embryos but not in mare oocytes.
3

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients

88%
Pietrzak J., Mrasek K., Obersztyn E., Stankiewicz P., Kosyakova N., Weise A., Cheung S. W., Ca W. W., vo_ E. F., Mazurczak T., Bocian E., Liehr T.
Journal of Applied Genetics
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2007
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vol. 48
|
issue 2
167-175
EN
Small supernumerary marker chromosomes (sSMCs) are a morphologically heterogeneous group of additional structurally abnormal chromosomes that cannot be identified unambiguously by conventional banding techniques alone. Molecular cytogenetic methods enable detailed characterization of sSMCs; however, in many cases interpretation of their clinical significance is problematic. The aim of our study was to characterize precisely sSMCs identified in three patients with dysmorphic features, psychomotor retardation and multiple congenital anomalies. We also attempted to correlate the patients' genotypes with phenotypes by inclusion of data from the literature. The sSMCs were initially detected by G-banding analysis in peripheral blood lymphocytes in these patients and were subsequently characterized using multicolor fluorescence in situ hybridization (M-FISH), (sub)centromere-specific multicolor FISH (cenM-FISH, subcenM-FISH), and multicolor banding (MCB) techniques. Additionally, the sSMCs in two patients were also studied by hybridization to whole-genome bacterial artificial chromosome (BAC) arrays (array-CGH) to map the breakpoints on a single BAC clone level. In all three patients, the chromosome origin, structure, and euchromatin content of the sSMCs were determined. In patient RS, only a neocentric r(2)(q35q36) was identified. It is a second neocentric sSMC(2) in the literature and the first marker chromosome derived from the terminal part of 2q. In the other two patients, two sSMCs were found, as M-FISH detected additional sSMCs that could not be characterized in G-banding analysis. In patient MK, each of four cell lines contained der(4)(:p11.1->.q12:) accompanied by a sSMC(18): r(18)(:p11.2->q11.1::p11.2->q11.1:), inv dup(18)(:p11.1->q11.1::q11.1->p11.1:), or der(18) (:p11.2->q11.1::q11.1->p11.1:). In patient NP, with clinical features of trisomy 8p, three sSMCs were characterized: r(8)(:p12->q11.1::q11.1->p21:) der(8) (:p11.22->q11.1::q11.1->p21::p21->p11.22:) and der(21)(:p11.1->q21.3:). The BAC array results confirmed the molecular cytogenetic results and refined the breakpoints to the single BAC clone resolution. However, the complex mosaic structure of the marker chromosomes derived from chromosomes 8 and 18 could only be identified by molecular cytogenetic methods. This study confirms the usefulness of multicolor FISH combined with whole-genome arrays for comprehensive analyses of marker chromosomes.
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