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1

Noninvasive fluorescent screening of microinjected bovine embryos to predict transgene integration

100%
Rosochacki S. J., Kozikova L., Korwin-Kossakowski M., Matejczyk M., Poloszynowicz J., Duszewska A. M.
Folia Biologica
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2003
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vol. 51
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issue 1-2
97-104
EN
Most transgenic domestic animals are generated by direct microinjection of DNA fragments into zygote pronuclei. It has generally been assumed that the majority of integration events should occur prior to the first round of chromosomal DNA replication. The aim of this study was to investigate the expression of GFP in bovine preimplantation embryos by using a gfp reporter gene consisting of chicken beta-actin promoter, the CMV-IE enhancer, gfp cDNA (EGFP) (732 bp) and rabbit beta-globin polyadenylation sequences. In five experiments 302 bovine zygotes were injected while 75 served as a control. The fluorescence intensity was detected at 72 and 168 h following fertilization in bovine embryos injected with 3 ng/mu l in experiments 1-3, and injected with 5 ng/mu l in experiments 4-5. Eight embryos were considered as expressing green fluorescence protein; 2 of them were 100% fluorescent after microinjection of a higher dose of the DNA; one was 75%, two - 50%, and three 25% transgenic. The mosaicism was assumed to be at 75%. The results indicated that the fluorescence could be analyzed at any time of bovine embryo development. It was therefore concluded, that chicken -actin promoter together with the CMV-IE enhancer would confer a strong expression of the gfp reporter gene in preimplantation bovine embryos. Therefore, using GFP that could be simply detected in live bovine (transgenic) embryos would be very promising in establishing transgenic lines of domestic animals producing in their fluids human therapeutic proteins.
2

Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3)

100%
Nucaro A. L., Melis P., Casini M. R., Rossino R., Cau M., Melis M. A., Loche S.
Journal of Applied Genetics
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2008
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vol. 49
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issue 3
301-303
EN
X/X translocations are quite rare in humans. The effect of this anomaly on the phenotype is variable and depends on the amount of deleted material and whether the chromosomes are joined by their long or short arms. We report an unusual case of Turner syndrome mosaicism in a 16-year-old girl, who was referred to our Institute for primary amenorrhoea associated with short stature. Endocrine evaluation revealed hypergonadotropic hypogonadism, which required a study of the karyotype. Cytogenetic analysis, performed on peripheral blood leucocytes, showed a mos 45,X/46,X,ter rea (X;X)(p22.3;p22.3) de novo karyotype. The prevalent cell line was 45,X (90% cells). A second cell line (10% cells) showed a very large marker chromosome, similar to a large metacentric chromosome. FISH (fluorescent in situ hybridisation) and molecular analysis revealed that the marker chromosome was dicentric and totally derived from the paternal X chromosome.
3

Chromosomal mosaicism on amniotic interphase nuclei detected by multiprobe FISH

100%
Constantinou M., Zajac E., Kaluzewski B.
Journal of Applied Genetics
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2003
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vol. 44
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issue 4
557-559
EN
So far classical prenatal detection of chromosome aberrations has been limited to the evaluation of metaphase by means of time-consuming cytogenetic techniques. The MultiVision PGT test enables a simultaneous detection of aneuploidies of chromosomes 13 ,18, 21, X, and Y, even 24 h after amniocentesis. In the presented case, this test detected prenatally a chromosomal mosaicism 69,XYY[35]/46,XY[65]. This result was not confirmed after birth, by the same test on blood smear. The discrepancy is difficult to explain.
4

A low-level X chromosome mosaicism in mares, detected by chromosome painting

88%
Wieczorek M., Switonski M., Yang F.
Journal of Applied Genetics
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2001
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vol. 42
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issue 2
205-209
EN
Fluorescence in situ hybridization with the use of the equine X whole chromosome painting probe was carried out on chromosome spreads originating from three mares with poor reproductive performance (infertility, miscarriage or stillbirth). The numbers of analysed spreads were high (105, 300 and 480) and in all three mares a low frequency of mosaicism was identified. The mares had the following karyotypes: 64,XX/63,X/65,XXX (93.6%/5.7%/0.7%), 64,XX/63,X (98.9%/1.1%) and 64,XX/63,X (94.3%/5.7%). The incidence and importance of the low percentage X chromosome mosaicism are discussed.
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