Full-text resources of PSJD and other databases are now available in the new Library of Science.
Visit https://bibliotekanauki.pl

Refine search results

Journals help

  1. 20 Journal of Applied Genetics

  2. 7 Biotechnologia

  3. 3 Archivum Immunologiae et Therapiae Experimentalis

Years help

  1. 3 2009

  2. 2 2008

  3. 1 2006

  4. 2 2005

  5. 5 2004

More...
Authors help

  1. 2 Zwierzchowski L.

  2. 1 Ambrasiene D.

  3. 1 Arciuliene J.

  4. 1 Babicz M.

  5. 1 Bal J.

More...
Preferences help
Polish version English version Language
enabled [disable] Abstract
Number of results

Results found: 30

Number of results on page
first rewind previous Page / 2 next fast forward last

Search results

Search:
in the keywords:  GENE
help Sort By:

help Limit search:
first rewind previous Page / 2 next fast forward last
1

Bovine leukocyte adhesion deficiency (BLAD)_ and its worldwide prevalance

100%
Pareek C. S., Kaminski S.
Journal of Applied Genetics
|
1996
|
vol. 37
|
issue 3
299-311
EN
Bovine leukocyte adhesion deficiency (BLAD) is a well characterized lethal autosomal recessive disease that occurs in Holstein cattle.The discovery of this genetic disorder in 1990 by Kehreli et al. was serendipitous and occured in conjunction with studies of the new methods to prevent mastitis in periparturient dairy cows.In this review article we are attempting to summarise the last 6-year research (1990-1995) covering major aspects of BLAD syndrome, its worldwide prevalence with emphasize on current and future development on BLAD research.
2

The influence of OLA-DRB1 (MHC class II) gene polymorphism on lamb body weight and weight gain in Polish Heath Sheep

80%
Gruszczynska J., Charon K. M., Kitlinska J., Szydlowski M.
Journal of Applied Genetics
|
2000
|
vol. 41
|
issue 2
101-112
EN
The study aimed at analysing the OLA-DRB1 (exon2/microsatellite sequence in intron2) gene polymorphism in Polish Heath Sheep and the influence of particular alleles on lamb body weight and weight gain. A total of 45 ewes, 7 rams and 100 lambs of Polish Heath Sheep were examined. In the parental generation 36 alleles of the OLA-DRB1 were found and the most frequent were 466bp, 500bp and 566bp (0.058, 0.125 and 0.067, respectively). In the investigated lambs there were 30 alleles with the highest frequency of 498bp, 500bp, 560bp and 566bp alleles (0.105, 0.210, 0.075 and 0.085, respectively).The presence of certain OLA-DRB1 alleles in ewe and lamb genotypes was found to be associated with significant differences in lamb rearing results. The significant or highly significant influence on body weight at birth and weight gain during the first month of lamb's life were observed in the case of the following alleles: 464bp, 466bp, 470bp, 488bp, 494bp, 538bp and 576bp in lambs; 468bp, 470bp, 474bp, 514bp, 536bp and 548bp in ewes.
3

Recent advances in understanding of the molecular basis of anhidrotic ectodermal dysplasia: discovery of a ligand, ectodysplasin A and its two receptors

80%
Wisniewski S. A., Kobielak A., Trzeciak W. H., Kobielak K.
Journal of Applied Genetics
|
2002
|
vol. 43
|
issue 1
97-107
EN
Recent developments of the investigations on the molecular basis of anhidrotic ectodermal dysplasia are reviewed. Identification of the major product of the EDA gene (ectodysplasin A), a protein belonging to a group of TNF ligands, and molecular cloning of the cDNA, encoding its receptor (EDAR), a member of the TNF receptor family, are presented. The role of an alternative EDA receptor, localised on the X chromosome (XEDAR) in the developmental control of the differentiation of skin appendages, is discussed. Recent findings have elucidated the cause of the autosomal forms of EDA, both dominant and recessive, and indicated an important role of a signal transduction pathway involving a protein product of the NEMO gene and the transcription factor NFkB in the differentiation of skin appendages.
4

Citrate synthase - key enzyme of every cell

80%
Robak M.
Biotechnologia
|
2000
|
issue 2
111-119
EN
This article reviews the current knowledge on the key cellular enzyme: citrate synthase [E.C.4.1.3.7]. The paper includes the description of genes, protein and active side structures, multienzyme complex formation, cellular functions and kinetic parameters. Some possible biotechnological application are presented.
5

Ornithine transcarbamylase gene mutations and genotype-phenotype correlation in Polish patients with hyperammonemia type 2

80%
Popowska E., Ciara E., Rokicki D., Pronicka E.
|
1999
|
vol. 40
|
issue 1
43-52
EN
Ornithine (OTC) deficiency is an X-linked disorder of the urea cycle inherited by a partially dominant trait. We studied one boy with a positive family history of sudden infant death syndrome (SIDS) and four girls with suspected OTC deficiency basing on pedigree analysis, spontaneous episodes of hyperammonemia and orotic aciduria, and on results of the allopurinol loading test. Four different point mutations, N198K in exon 6, A209V and E326K in exon 9, and IVS nt-2 aRg in splice acceptor site in intron 7 were identified in the OTC gene. In addition, one common polymorphism in exon 8 (Q270R) with normal OTC activity was observed. All the mutations were detected in heterozygous girls and, except one, in the patients' asymptomatic mothers. In the latter single case the mutation had occurred de novo. All of the affected patients developed a positive allopurinol test. Four affected but asymptomatic women (mothers and a sister of the patients) revealed normal or only slightly increased orotic aciduria following allopurinol ingestion. Our observation supports the probability of undefined or false negative allopurinol test results reported previously for heterozygous females.
6

The analysis of 14-3-3 gene family

80%
Szopa J., Czuj T., Lukaszewicz M.
|
2003
|
issue 3
95-106
EN
The 14-3-3s constitute a family of highly homologous proteins, first discovered in brain tissue and now thought to be present in all eukaryotic cells. Recently, thirteen cDNAs in Arabidopsis, seven in human cells and six in potato plant were found, all encoding highly homologous 14-3-3 protein isoforms. While there is substantial progress in the identification of diverse partners of 14-3-3 in recent years, at least two important questions need to be answered. Is there any specificity within 14-3-3 isoforms in the binding of diverse partners? Does this binding affects plant metabolism or physiology in vivo? The significance of 14-3-3 protein in potato metabolism has been shown by the use of transgenic plants in which 14-3-3 protein has been either increased by the expression of a Cucurbita pepo cDNA or decreased by an antisense RNA method. It was thus proposed that 14-3-3 protein affect the carbohydrate metabolism in potato via the regulation of catecholamine synthesis. To answer the question on isoform specificity, the isoforms gene promoters were first analysed for specific domains content by the comparison with the known sequences accumulated in database. Then, the promoter characteristic was studied in transgenic plants transformed with reporter GUS gene under the control of the 14-3-3 promoter. The data obtained strongly suggest that the function of particular isoform at least partially derives from promoter specificity.
7

Genes and enzymes taking part in biotransformation of steroid ring structure

80%
Brzostek A., Poplawski T., Murooka Y., Dziadek J.
Biotechnologia
|
1998
|
issue 2
67-85
EN
Biotransformation of steroid compounds involves two major steps: side chain degradation, which is poorly understood at the genetic level, and the degradation of steroid ring structure, which is better known. This article describes well known molecular mechanisms of ring structure multistep biodegradation. Particular stress is put on the role of cholesterol oxidase, ketosteroid dehydrogenase, ketosteroid isomerase as the best analysed enzymes involved in steroid biotransformation.
8

Three novel mutations in exon 21 encoding b-cardiac myosin heavy chain

80%
Moric E., Mazurek U., Polonska J., Domal-Kwiatkowska D., Smolik S., Kozakiewicz K., Tendera M., Wilczok T.
|
EN
Familial hypertrophic cardiomyopathy has a complex multigenic background. Previous work allowed to determine one of the gene loci responsible for this disease on chromosome 14 band q11-q12, and linked it to the a and b-cardiac myosin heavy chains. In this study we demonstrate changes in exon 21, coding for b-myosin heavy chain. We described 4 patients from different families with an unequivocal diagnosis of hypetrophic cardiomyopathy based on the clinical picture. Direct sequencing of exon 21 revealed the presence of 5 novel mutations. Two of the mutations in codons 771 and 781 revealed in our study did not result in any changes in amino acid sequence. The next three were as follows: in codon 782 (AGC > GAC) transition responsible for Ser?Asp substitution; in codon 779 (GAG > TAG) mutation that results in replacement of Glu?Stop; in codon 774 (GAG > GTG) which is expressed as substitution of Glu?Val. These mutations are located close to mutations identified and described in the literature, so they are likely to cause similar sumptoms.
9

Genetic and biochemical background of chronic granulomatous disease

80%
Jurkowska M., Bernatowska E., Bal J.
Archivum Immunologiae et Therapiae Experimentalis
|
2004
|
vol. 52
|
issue 2
113-120
EN
Chronic granulomatous disease (CGD) is a rare inherited immunodeficency syndrome caused by a profound defect in the oxygen metabolic burst machinery. Activity of NADPH oxidase is absent or profoundly diminished, as at least one of its components (gp91phox, p22phox, p47phox and p67phox) is lacking or non-functional. This review explains the molecular basis of NADPH oxidase dysfunction by the effects of mutations in genes coding for particular oxidase components. Among the four types of CGD, the most common is X- -linked CGD (approximately 65%), with defects in the CYBB gene encoding gp91phox. A wide spectrum of mutations has been described in the CYBB gene with no predominant genotype. The second most common subtype of CGD caused by NCF1 mutation accounts for 30% of CGD patients and is inherited in an autosomal recessive manner, with predominance of a homozygotous .GT deletion in the genotype. The other two CGD subtypes having an autosomal recessive pattern together account for no more than 10% of CGD cases. A strategy for the molecular diagnostics in CGD patients is proposed and principles of genetic counseling are discussed here.
10

APC gene mutations causing familial adenomatous polyposis in Polish patients

80%
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.
11

The multigene family of fatty acid-binding proteins (FABPs): Function, structure and polymorphism

80%
Chmurzynska A.
Journal of Applied Genetics
|
2006
|
vol. 47
|
issue 1
39?48
EN
Fatty acid-binding proteins (FABPs) are members of the superfamily of lipid-binding proteins (LBP). So far 9 different FABPs, with tissue-specific distribution, have been identified: L (liver), I (intestinal), H (muscle and heart), A (adipocyte), E (epidermal), Il (ileal), B (brain), M (myelin) and T (testis). The primary role of all the FABP family members is regulation of fatty acid uptake and intracellular transport. The structure of all FABPs is similar ? the basic motif characterizing these proteins is ?-barrel, and a single ligand (e.g. a fatty acid, cholesterol, or retinoid) is bound in its internal water-filled cavity. Despite the wide variance in the protein sequence, the gene structure is identical. The FABP genes consist of 4 exons and 3 introns and a few of them are located in the same chromosomal region. For example, A-FABP, E-FABP and M-FABP create a gene cluster. Because of their physiological properties some FABP genes were tested in order to identify mutations altering lipid metabolism. Furthermore, the porcine A-FABP and H-FABP were studied as candidate genes with major effect on fatness traits.
12

Evaluation of the genetic profile of the Pulawska breed

80%
Babicz M., Kuryl J., WalkiewiczA.
Journal of Applied Genetics
|
2003
|
vol. 44
|
issue 4
497-508
EN
An assessment was made of the genetic variation of the Pulawska pig through the determination of polymorphism of 6 genes and 14 microsatellite sequences. The examinations covered 52 gilts included in a preservation breeding project. The identification of the alleles at microsatellite loci was performed in an ABI PRISM 310 GENETIC ANALYZER. Gene polymorphism was established by the PCR-RLFP method. On the basis of the variation of 6 genes and 14 microsatellites the mean value of the heterozygosity coefficient was estimated at 0.61, while the value of the corresponding PIC coefficient (polymorphism information content) amounted to 0.55. The probability that the genotypes of two randomly chosen individuals in a population are identical was: 6.95 ? 10?3 (based on gene allele frequency) and 1.23 ? 10?14 (based on microsatellite allele frequency).
13

Polymorphism within the bovine estrogen receptor-a gene 5?-region

80%
Szreder T., Zwierzchowski L.
Journal of Applied Genetics
|
2004
|
vol. 45
|
issue 2
225-236
EN
Due to the functions that estrogens play in the regulation of reproduction, development of the mammary gland, growth and differentiation of cells, estrogen receptors and their genes are considered candidates for the markers of production and functional traits in farm animals, including cattle. In the present study, on the basis of the sequences of the human, ovine, and porcine ER genes, available in the GenBank database, sets of PCR primers were designed and used to amplify the bovine ERa gene 5?-region. Seven overlapping fragments of the 5? region of the bovine ERa gene were amplified and then sequenced. Altogether, these fragments were composed in the 2853-bp sequence which was deposited in the GenBank database under accession no. AY340597. The sequenced fragment included the noncoding exons A, B, C, their putative promoters, and a part of the coding exon 1. A polymorphism within the 5? region of the bovine ERa gene ? A/G transition, which could be recognized with RFLP-BglI, lying upstream to the exon C, was identified for the first time using this sequence.
14

CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group

80%
Sulek A., Hoffman-Zacharska D., Krysa W., Szirkowiec W., Fidzianska E., Zaremba J.
Journal of Applied Genetics
|
2005
|
vol. 46
|
issue 2
237-239
EN
Spinobulbar muscular atrophy (SBMA) is an X-linked form of motor neuron disease characterized by progressive atrophy of the muscles, dysphagia, dysarthria and mild androgen insensitivity. SBMA is caused by CAG repeat expansion in the androgen receptor gene. CAG repeat polymorphism was analysed in a Polish control group (n = 150) and patients suspected of SBMA (n = 60). Normal and abnormal ranges of CAG repeats were established in the control group and in 21 patients whose clinical diagnosis of SBMA was molecularly confirmed. The ranges are similar to those reported for other populations.
15

Antigenic markers of protein genes and their nomenclature in cattle

71%
Wegrzyn J., Skiba E.
|
|
issue 3
319-327
EN
The results of previous research on antigenic (allotypic) specificities of immunoglobulins, alpha globulins, beta globulins and lipoproteins in cattle are reviewed. The suitability of heteroantibodies and alloantibodies for identification of this type of markers was analysed. New names/symbols of antigenic markers of proteins in cattle, identified at the Department of Immuno and Cytogenetics of the National Research Institute of Animal Production (Balice/Krak?w, Poland), were introduced.
16

Different patterns of genetic structure of relict and isolated populations of endangered peat-bog pine (Pinus uliginosa Neumann)

71%
Wachowiak W., Prus-Glowacki W.
Journal of Applied Genetics
|
2009
|
vol. 50
|
issue 4
329-339
EN
Recent changes in environmental conditions in populations of peat-bog pine (Pinus uliginosa Neumann) caused rapid decline or even extinction of the species in several stands in Central Europe. Conservation strategies for P. uliginosa require information about the evolutionary history and genetic structure of its populations. Using isozymes we assessed the genetic structure of P. uliginosa from four isolated stands in Poland and compared the results to genetic structures of other closely related pine species including eight populations of Pinus mugo, ten of Pinus sylvestris and one of Pinus uncinata. The level of genetic variability of P. uliginosa measured by the mean number of alleles per locus and average heterozygosity was similar to others related to P. uliginosa taxa from the reference group but it differs among populations. High genetic similarity was found between two populations of P. uliginosa from Low Silesian Pinewood. The populations were genetically distinct as compared to other populations including locus classicus of the species from the peat bog at Batorow Reserve. Very low genetic distance (DN = 0.002) and small genetic differentiation (GST = 0.003) were found between P. uliginosa and P. mugo in the sympatric populations of the species from Zieleniec peat bog suggesting the ongoing natural hybridisation and genetic contamination of peat-bog pine from this area. Some evidence for skew in allele frequency distribution potentially due to recent bottleneck was found in population from Low Silesian Pinewood. The analysed open pollinated progeny derived from two P. uliginosa stands from Low Silesian Pinewood showed the excess of homozygotes as compared to the maternal trees indicating high level of inbreeding (F = 0.105, F = 0.081). The results are discussed in the context of evolution of P. uliginosa populations, taxonomic relationships between the analysed species and conservation strategies for active protection of peat-bog pine.
17

Association od the DdeI growth hormone gene polymorphism with some performance traits in Polish Large White and Czech Large White ? Polish Large White pigs

71%
Putnova l., Krenkova K. L., Krenkova L., Vrtkova V. I., Vrtkova I., Dvorak D. J., Dvorak J., Pietruszka P. A., Pietruszka A., Czarnecki C. R., Czarnecki R.
Journal of Applied Genetics
|
2001
|
vol. 42
|
issue 3
317-324
EN
. The genotypes of growth hormone gene polymorphisms (GH-DdeI, GH-MspI, GH-HaeII, GH-ApaI, GH-CfoI) were determined in 78 pigs [Czech Large White sires (CLWsire line) ? Polish Large White (PLW) sows, Polish Large White sires ? Polish Large White sows], by the PCR-RFLP method. Preliminary studies found only GH DdeI polymorphism to be associated with performance traits. The associations of this polymorphism with growth and carcass traits were investigated. The linear model included the effects of candidate genes, genetic groups, sex and linear covariables of age at slaughter and body weight at weaning. The DdeI polymorphism of the GH gene showed associations with carcass length (P 0.05), average daily gain from birth to weaning (P 0.05) and average daily gain from weaning to slaughter (P 0.05). The association of GH genotypes with feed conversion was near significance. Sex influenced average daily gain from birth to weaning. The genetic groups (Czech or Polish sires) improved fat thickness at sacrum point 3, average daily gain from birth to weaning, lean meat content, weight of chop, weight of shoulder, weight of neck and average daily gain from weaning to slaughter. The regression on age at slaughter and on body weight at weaning influenced the majority of production traits.
18

Interference in ethylene biosynthetic pathway using transformation

71%
Kepczynski J., Kepczynska E.
Biotechnologia
|
2000
|
issue 2
72-82
EN
The biosynthesis of ethylene in plants and its regulation by manipulating the expression of ACC synthase or ACC oxidase genes are discussed. Ethylene synthesis can be reduced by the introduction of antisense ACC synthase or antisense ACC oxidase genes. Expression genes of SAM hydrolase from bacteriofage T3, which catalyze the conversion of SAM to methylothioadenosine, also diminished ACC availability. Another possibility of ethylene biosynthesis control is the expression of gene encoding ACC deaminase from Pseudomonas.
19

Identification of RAPD markers in plants

71%
Marczewski W.
Biotechnologia
|
1999
|
issue 1
106-115
EN
The random amplified polymorphic DNA (RAPD) method is based on random amplification of DNA fragments, via PCR, using short primers of arbitrary sequence. RAPD markers have been applied to construct linkage maps, to assess genetic diversity, to study taxonomic relationships, and to tag disease resistance genes in plants. RAPD markers linked to a resistance gene can be identified using bulked segregant analysis (BSA), recombinant inbred lines (RILs) or near-isogenic lines (NILs). More reliable and specific PCR-based markers known as sequence-characterized amplified region (SCAR) and allele-specific associated primer (ASAP) were developed. There are several examples of the application of these DNA marker systems in marker-assisted plant breeding.
20

A novel sheep gene, MMP7, differentially expressed in muscles from black-boned sheep and local common sheep

71%
Yonggang L., Shizheng G.
Journal of Applied Genetics
|
2009
|
vol. 50
|
issue 3
253-256
EN
Differences in gene expression in muscles from Chinese black-boned sheep and local common sheep were investigated using mRNA differential display. One differentially expressed novel gene was identified through semi-quantitative RT-PCR, and the full-length cDNA sequence was then obtained using the rapid amplification of cDNA ends (RACE). The nucleotide sequence of this gene is not homologous to any of the known sheep genes, but it contains an open reading frame encoding a protein of 416 amino acids, which has high homology with matrix metallopeptidase 7 (matrilysin, uterine) (MMP7) of 10 species: bovine (93%), rhesus monkey (75%), human (74%), pig (73%), chimpanzee (73%), dog (73%), horse (72%), mouse (66%), rat (65%), and chicken (53%). Thus the novel gene can be defined as the sheep MMP7 gene. It was finally assigned to GeneID:100192317. The phylogenetic tree analysis revealed that the sheep MMP7 gene is closely related to the bovine MMP7. Our experiment is the first one to establish the primary foundation for further research on the sheep MMP7 gene.
first rewind previous Page / 2 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.