Full-text resources of PSJD and other databases are now available in the new Library of Science.
Visit https://bibliotekanauki.pl
Preferences help
Polish version English version Language
enabled [disable] Abstract
Number of results

Results found: 15

Number of results on page
first rewind previous Page / 1 next fast forward last

Search results

help Sort By:

help Limit search:
first rewind previous Page / 1 next fast forward last
1

APC gene mutations causing familial adenomatous polyposis in Polish patients

100%
Plawski A., Slomski R.
Journal of Applied Genetics
|
2008
|
vol. 49
|
issue 4
407-414
EN
Familial adenomatous polyposis (FAP) is a well-known hereditary condition characterised by alimentary system tumours. Tens to thousands of polyps occur in the colon and rectum of the patients. There is a high heterogeneity with regard to the number and time of the occurrence of polyps. The occurrence of FAP is associated with mutations in the APC tumour suppressor gene, which was described in 1991. Since then, many studies have been done to analyse the distribution of mutations in individual populations and to determine the function of the gene and a diagnostic approach to FAP. Here the APC gene was studied with respect to the occurrence of small mutations and large rearrangements in 300 unrelated Polish FAP families. Ninety-seven mutations were identified in 164 families. Out of these mutations, 80 were small mutations, including 58 small mutations that were first identified in the Polish population (42 novel and 16 described previously). An increased frequency of mutation c.3927_3931delAAAGA was observed in 10% of the Polish group. Seventeen large rearrangements were found in 29 families. Out of those rearrangements, 8 repeat rearrangements occurred in 20 families. A problem in fast molecular diagnostics of FAP is a high heterogeneity of mutations in the APC gene. It seems that a multiplex ligation-dependent probe amplification test and searching for small mutations by the use of screening methods at the 5' end of exon 15 and exons 14, 9, 11, 13, 5, and 3, help to improve the molecular diagnostics of FAP in Polish patients.
2

DNA libraries ? a way to understand genome structure

100%
Wolko L., Slomski R.
Biotechnologia
|
2003
|
issue 3
159-179
EN
Wide genome physical mapping is becoming a main goal of current genomic research on many plant and animal species. It provides essential basis for large-scale genome sequencing, but requires well-saturated large-insert DNA genomic libraries. This review presents a progress in the construction and application of genomic libraries. New trends towards the improvement of cloning vectors and adjustment to new tasks of molecular genetics are also presented.
3

Molecular basis of malignant hyperthermia

100%
Gronek P., Slomski R.
|
|
vol. 38
|
issue 3
309-317
EN
Malignant hyperthermia (MH) is a clinical syndrome in which genetically susceptible individuals respond to the administration of potent inhalation anaesthetics and depolarization skeletal muscle relaxants with skeletal rigidity, unstable blood pressure, tachycardia, arrhythmias, hyperventilation, hypoxia, lactic and respiratory acidosis and high fever. In studies of the genetic basis of MH, a mutation was identified in the porcine (C1843T) and human (C1840T) skeletal muscle ryanodine receptor (RYR1) gene. This gene is mapped on human chromosome 19q13.1. The RYR1 gene contains 106 exons, of which two are alternatively spliced.
4

Structure and function of cyclophilins

100%
Nuc K., Slomski R.
|
EN
Cyclophilins (CyPs) constitute a large class of highly conserved, ubiquitous PPIases (EC 5.2.1.8), which together with FK560 binding proteins (FKBP) and parvulins belong to a superfamily of immunophilins. These three classes of proteins are easily distinguishable by their selective interactions with immunosuppressive drugs. Cyclophilins are targets for cyclosporin A (CsA), parvulins bind juglone (5-hydroxy-1.4-naphthoquinone) and FKBP are inhibited either by FK560 drug or by rapamycin. Despite the lack of structural similarity all these proteins have been shown to act as peptidylprolyl cis-trans isomerases. In all cases binding of the drug inhibits their PPIase activity. Distinct isoforms of cyclophilins have been localized in the cytoplasm, nucleus, mitochondria, chloroplasts and endoplasmic reticulum.
5

Application of some molecular biology techniques in diagnosis of human genetic diseases

81%
Slomski R., Kwiatkowska J., Chlebowska H.
Biotechnologia
|
1993
|
issue 4
125-131
EN
Following the initial reports of the cloning of a DNA fragment, modern molecular genetics found immediate practical application in molecular analysis and diagnosis of human diseases.Genomic DNA, RNA, nucleic acids from archival specimen or cloned DNA may be starting materials for gene analysis.In extrame cases complete analysis can be performed on the DNA from a single cell or a few microdissected chromosome fragments, or on RNA from only few cells. Many variations of the basic analytical procedures have nov been described and applied to a range of medical disciplines. These include, the polymerase chain reaction (PCR), which rapid detection of fast or slow growing microorganisms and viruses, such as mycobacteria and HIV, the detection of minimal residual diseases in leukaemia and in HLA typing. The analysis of archival and forensic material has applications in forensic pathology and evolutionary biology. PCR technique has also established a central role in the human genome project.
6

Loop formation by the transgene WAP:6xHishGH in transgenic rabbit fibroblasts, revealed by fluorescence in situ hybridization to nuclear halos

81%
Michalak E., Lipinski D., Slomski R.
Journal of Applied Genetics
|
2006
|
vol. 47
|
issue 3
247-249
EN
Using fluorescence in situ hybridization (FISH) to somatic nuclear halos from transgenic rabbits WAP:6xHishGH, we present evidence for stability of transgenesis at the chromatin level. FISH performed on fibroblasts from a homozygous individual showed 2 independent loops from both chromosomes of pair 7. On a heterozygous individual, FISH detected a single loop. According to the concept of chromatin loops and their influence on gene expression, this shows that the human growth hormone transgene, which was actively expressed in mammary gland under the influence of the tissue-specific promoter, was inactive in examined skin fibroblasts.
7

The organ transplantation ? a challenge for biotechnology

81%
Jasinski A., Slomski R., Szalata M., Lipinski D.
Biotechnologia
|
2006
|
issue 1
7-28
EN
The use of animals as a source of organs and tissues for xenotransplantation can overcome the growing shortage of human organ donors. However, xenoreactive antibodies present in humans directed against swine Gal antigen on the surface of xenograft donor cells leads to the complement activation and immediate xenograft rejection as a consequence of hyperacute immunological reaction. The graft of genetically modified organ of a swine would be tolerated with simultaneous administration of medicines decreasing other less severe immunological reactions. This review summarizes the clinical history and rationale for xenotransplantation, recent progress in understanding the physiologic, immunologic, and infectious obstacles to xenotransplantation and some of the strategies being pursued to overcome these dificulties.
8

Self-incompatibility alleles in Polish wild pear (Pyrus pyraster (L.) Burgsd.): a preliminary analysis

81%
Wolko L., Antkowiak W., Sips M., Slomski R.
|
|
vol. 51
|
issue 1
33-35
EN
Wild pear (Pyrus pyraster, syn. P. communis var. pyraster) is thought to be one of the species that gave rise to all other members of the genus Pyrus, although intraspecific hybridizations with cultivated varieties could cause the disappearance of original species characteristics. S-RNase alleles from 7 different wild pear individuals, collected from various regions of Poland, were cloned on the basis of the PCR method and nucleotide sequence analyses. The hypervariable (HV) region is responsible for allele-specific S-RNase activity in the self-incompatibility mechanism. The high level of polymorphism of its sequences may constitute a source of valuable phylogenetic information. From all individuals, 14 sequences were obtained successfully, and 9 of them were novel alleles. Phylogenetic analysis of these alleles was based on the amino acid sequence interpretation of coding regions and intron nucleotide sequences. The research conducted on a limited pool of available P. pyraster alleles gives only an initial insight into possible S-RNase allele polymorphisms in wild populations. At this stage, the results do not confirm a strong influence of cultivated pear species on the wild pear.
9

DNA polymorphism in locus D1S80 in Poland. DNA profiling and detection of new alleles by heteroduplex formation between alleles of the same size

81%
Kwiatkowska J., Dziechciowska K., Lisiecka D., Slomski R.
|
|
vol. 38
|
issue 3
335-341
EN
We have analysed allele distribution at the highly polymorphic variable number of tandem repeats (VNTR) locus D1S80 (pMCT118) in the Polish population using the polymerase chain reaction (PCR) technique. Characteristics of the D1S80 locus makes it a very useful marker for population genetic research, genetic linkage studies and forensic identification of individuals. During our routine application of the D1S80 marker to paternity testing in several cases of homozygosity detected by polyacrylamide gel electrophoresis, heteroduplex formation for alleles 18 and 24 was also observed. Direct sequencing of PCR products revealed that alleles 18 and 24 of locus D1S80 actually represent a mixture composed of different sequences. Our observations indicate that identification of some 18 and 24 VNTR alleles based only on size estimated in electrophoretic analyses could lead to errors in paternity testing and DNA profiling.
10

Polymorphism of nine canine-derived microsatellites in farm silver foxes (Vulpes fulvus)

81%
Zajac M., Klukowska J., Slomski R., Switonski M.
Journal of Applied Genetics
|
2000
|
vol. 41
|
issue 1
43-50
EN
Polymorphism of nine canine-derived microsatellites (CPH1, CPH3, CPH6, CPH11, 2004, 2010, 2140,2168 and 2319) was studied in a group of 91 unrelated silver foxes kept on a commercial farm. Among the studied microsatellites two appeared to be dimorphic (CPH1 and 2140) and another two (2010 and 2319) were highly polymorphic, with PIC (Polymorphic Information Content) values of 0.775 and 0.692, respectively. Other five microsatellites demonstrated medium polymorphism and the PIC values ranged from 0.548 to 0.616. It was calculated that if all the studied markers were applied for paternity testing, then combined exclusion probability would be 0.989. Microsatellite polymorphisms in the silver fox, blue fox and dog were compared and tendency toward longer alleles in the dog was revealed. It was confirmed that canine-derived microsatellites can be successfully applied for parentage control and genome mapping in silver foxes.
11

Production of therapeutic proteins in the semen of transgenic animals

81%
Lipinski D., Juzwa W., Zeyland J., Slomski R.
Biotechnologia
|
2006
|
issue 1
44-52
EN
The expression of the recombinant proteins by transgenic animals represents an opportunity to achieve cost-effective, large-scale production of a wide variety of therapeutics. Among transgenic animal production systems, the transgenic mammary gland is the most advanced. However, the production of proteins in milk is limited by a relatively long interval from birth to first lactation encountered with domestic livestock, the discontinuous nature of the lactation cycle and the substantial time and material investments required to produce transgenic dairy animals. The semen of transgenic boar represents an alternative platform for the production of therapeutic proteins. The expression of such proteins in the male accessory glands, particularly in the seminal vesicle epithelium can be controlled by gene regulatory sequences specific to these tissues. In this review, we consider the possibility of using such regulatory sequences to drive the production of foreign proteins into the seminal fluids of transgenic animals. Application of this technology to pigs which can be ejaculated 2-3 times per week (200-300 ml per ejaculate), could lead to the annual production of several grams of recombinant protein.
12

Homology of DNA sequences encompassing the malignant hyperthermia mutation site in the human, porcine, and zebrine ryr1 gene

62%
Gronek P., Slomski R., Lisiecka D., Plawski A., Nuc K., Banasiewicz T.
Journal of Applied Genetics
|
1998
|
vol. 39
|
issue 3
275-279
EN
The RYR1 gene encoding the Ca2+ channel of sarcoplasmic reticulum of human skeletal muscle has been cloned and its nucleotide sequence has been determined earlier. We have used the polymerase chain reaction single strand conformation polymorphism (PCR-SSCP), and sequencing analysis for human, porcine (Sus scrofa), and zebrine (Equus grevyi) ryanodine receptor (ryr1) gene. The fragment of exon 17 of the ryr1 gene was characterized by a high homology between all the analysed species (substitution of a nucleotide is underlined): porcine ryr1 1834GTG GCC GTG CGC TCC AAC CAA GAT CT1859 human RYR1 1831GTG GCC GTG CGC TCC AAC CAA GAT CT1856 zebrine ryr1 GTG GCC GTG CGC TCC AAC CAA GAC CT.
13

Production of pigs used in xenotransplantation

52%
Jura J., Slomski R., Smorag Z., Gajda B., Wieczorek J., Lipinski D., Kalak R., Juzwa W., Zbyland J.
Biotechnologia
|
2006
|
issue 1
151-158
EN
There are four main trends in the use of transgenic animals. One of the most interesting is the use of transgenic animals as the donors of tissue or organs suitable for transplantation in human ? xenotransplantation. This field of research has been undergoing intensive and increasing study during the past few years, and some encouraging progress is being made. A pig has been identified as the most suitable donor animal. The aim of the presented experiment was to produce transgenic pigs which tissues and organs could be used for the xenotransplantation needs. To target the goal, a competitive gene construct coding the same substrate as the endogenous enzyme of organ donor was introduced. In effect, transgenic boar was produced with confirmed integration of human a1,2 fucosyltransferase gene. Also, F1 generation of transgenic pigs was generated to preserve ongoing needs of preliminary research of xenotransplantation project.
14

Transgenic rabbit producing human growth hormone in milk

42%
Lipinski D., Jura J., Kalak R., Plawski A., Kala M., Szalata M., Jarmuz M., Korcz A., Slomska K., Gronek P., Smorag Z., Pienkowski M., Slomski R.
Journal of Applied Genetics
|
2003
|
vol. 44
|
issue 2
165-174
EN
The gene construct WAP(6xHisThr):hGH containing the entire human growth hormone gene (hGH) under the rat whey acidic protein (WAP) promoter regulating the expression in mammary glands of mammals was prepared. The 5? end of the gene was modified by the addition of a sequence encoding six histidine residues and a sequence recognized by thrombin. The gene construct was introduced by microinjection into the male pronucleus of a fertilized oocyte. The founder male rabbit was obtained with the transgene mapping to chromosome 7. The presence of the growth hormone was confirmed in samples of milk collected during the lactation of F1 generation females. The growth hormone can be easily purified by affinity chromatography and cleavage by thrombin to an active form.
15

Expressive gene structures of proper and modified genes

42%
Lipinski D., Szalata M., Kalak R., Plawski A., Nuc K., Kala M., Juzwa W., Slomska K., Gronek P., Jura J., Smorag Z., Pienkowski M., Slomski R.
Biotechnologia
|
2003
|
issue 1
48-73
EN
The genetic construct WAP 6xHisHGH containing the gene encoding human growth hormone (hGH) and WAP promoter expressed in mammary gland of animals was prepared. The 5? end of the gene was modified by the addition of sequence encoding six histidine residues and the sequence recognized by thrombin. In this way, the growth hormone can be easily purified by affinity chromatography and cleaved with thrombin to an active form. In the next step, the genetic construct was introduced by microinjection into male pronuclei of fertilized oocytes. Transgene was detected in male rabbit of F0 generation (number 61). Twelve offspring of founder rabbit of generation F1 indicated transgene sequences. The presence of growth hormone was revealed in the samples of milk accumulated during the lactation of females of F1 generation. The genetic constructs containing chain 1 and chain 2 of Feld1, and the major allergen produced by cat (Fedlis domesticus) were prepared. Both genes were inactivated by introduction into the sequences a positive selectable marker aminoglycoside phosphotransferase (resistant to neomycin). Outside the region of homology to Feld1 chain 1 and chain 2 genes, the negative selectable marker ? thymidine kinase gene was introduced. The genetic constructs pNTKFd1 and pNTKFd2 can be used in further experiments involving the inactivation of Feld1 genes in cat cells. Both genes were modified by site-directed mutagenesis using megastarter with Stop codon for premature termination of translation. The presence of mutation was confirmed by sequencing. The genetic constructs with human hGH gene and cat Feld1 gene were introduced into the bovine and cat fetal fibroblasts respectively in co-transfection with plasmid pGT-N29 containing positive selectable marker by lipofection, precipitation and electroinjection methods. After the selection, surviving cells were subjected to further molecular analysis. The stabile incorporation of the genetic constructs WAP 6xHisHGH and WAPHGH into the genome were observed.
first rewind previous Page / 1 next fast forward last
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.