Wyniki wyszukiwania

1

Faster and cheaper PCR on a standard thermocycler

100%

Sobczak K., Kozlowski P., Krzyzosiak W. J.

Acta Biochimica Polonica

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1995

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tom 42

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nr 3

The PCR conditions have been optimized to make the process faster and more economical. When short DNA fragments are to be amplified, the time of denaturation, annealing and extension steps can be as short as 1 s each, and the yield of PCR product is still high, sufficient for many types of analysis. The PCR can be done even in a reaction volume as low as 1 jxl. The recommended volume, 2.5 jil or 5 jil, allows significant savings in the laboratory budget especially for laboratories which use PCR frequently and on a large scale.

2

Simultaneous SSCP genotyping of coding and regulatory fragments of bovine beta-lactoglobulin gene

80%

Kaminski S.

Natural Sciences

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2000

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tom 04

3

Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia

70%

Kobielak K., Kobielak A., Limon J., Trzeciak W. H.

Acta Biochimica Polonica

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1998

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tom 45

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nr 1

We have investigated a fragment of the regulatory region of the EDA gene in a patient with clinical symptoms of anhidrotic ectodermal dysplasia (EDA), whose DNA sequence of exon 1 was normal. The single-strand conformation polymorphism (SSCP) analysis of PCR-amplified fragments of the regulatory region of the EDA gene suggested a mutation localized within the fragment extending from nucleotide -571 to -182 upstream of the 5' end of the cDNA. Sequence analysis of this fragment documented an additional adenine in position -452, located 32 nucleotides upstream from the response element HK-1, a target for transcription factor LEF-1, involved in the differentiation of tissues of ectodermal and mesodermal origin. We postulate that this mutation might interfere with the transcription process of the EDA gene and might be responsible, at least in part, for the clinical symptoms of anhidrotic ectodermal dysplasia.

4

Three novel single nucleotide polymorphisms of the 3-hydroxy-3-methylglutaryl coenzyme A reductase gene associated with egg-production in chicken

61%

Han C., An G., Du X.

Folia Biologica

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2014

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tom 62

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nr 3

5

Novel SNP of the goat prolactin gene [PRL] associated with cashmere traits

51%

Lan X.-Y., Pan C.-Y., Chen H., Lei C.-Z., Li F.-Y., Zhang H.-Y., Ni Y.-S.

Journal of Applied Genetics

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2009

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tom 50

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nr 1

51-54

Concentrations of the single-chain polypeptide hormone prolactin (PRL) are associated with wool or cashmere traits, and its seasonal changes may determine patterns of enzymatic activity and may affect cashmere fibre growth and moult. So, the PRL gene is a potential candidate gene for cashmere traits in marker-assisted selection (MAS). In this paper, we report a novel missense single-nucleotide polymorphism (SNP) within the goat PRL gene in 1367 individuals by PCR-SSCP (polymerase chain reaction with single-strand conformation polymorphism) analysis and DNA sequencing. The novel X76049:g.576C>A mutation is confirmed by Eco241 PCR-RFLP (restriction fragment length polymorphism) analysis and causes a missense codon (Pro176Thr). The frequencies of allele C varied from 0.79 to 0.93 in 9 analysed goat populations. C allele was correlated with higher fibre length (P = 0.014).

6

Native nucleic acid electrophoresis as an efficient alternative for genotyping method of influenza virus

51%

Pajak B., Lepek K.

Acta Biochimica Polonica

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2014

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tom 61

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nr 3

7

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Genotyping of bovine beta-lactoglobulin [LGB] by PCR-SSCP technique

51%

Kaminski S., Zabolewicz T.

Journal of Applied Genetics

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1997

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tom 38

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nr 4

A new method facilitating the identification of the two most common alleles (A and B) of the bovine beta-lacoglobulin (LGB) gene is described. The method is based on two steps: PCR amplification of 240 bp fragment of LGB gene followed by the single stranded conformation polymorphism (SSCP) detection. AA, AB and BB genotypes of LGB were identified with this technique. The PCR-SSCP is simple, accurate and relatively inexpensive. Additionally, this method has a potential to detect new variants within the amplified gene fragment.

8

SSCP polymorphism within 5' region of bovine lactoglobulin [LGB] gene

51%

Kaminski S., Zabolewicz T.

Journal of Applied Genetics

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1998

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tom 39

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nr 1

In the paper the detection of the SSCP polymorphism within the 5’ fragment of bovine beta-lactoglobulin (LGB) gene is described. The 5’ fragment of LGB gene (209 bp) was PCR-amplified and then subjected to electrophoresis allowing the detection of SSCP polymorphism. Among 124 animals (50 cows and 74 bulls) six SSCP patterns were identified and named Rl, R2, R3, R4, R5 and R6, which occured with the frequency of 0.32, 0.51, 0.09, 0.06, 0.01 and 0.01, respectively. The PCR-SSCP method is simple, fast, and relatively inexpensive. The SSCP polymorphism reported in the paper may be useful in looking for the associations between different SSCP patterns and LGB gene expression and milk properties.

9

Screening of chromosomal region 21q22.3 for mutations in genes associated with neuronal Ca2plus signalling in bipolar affective disorder

51%

Kostyrko A., Hauser J., Rybakowski J. K., Trzeciak W. H.

Acta Biochimica Polonica

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2006

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tom 53

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nr 2

The therapeutic effect of lithium in bipolar affective disorder may be connected with decreasing intracellular Ca2+ concentrations. Several linkage studies have identified a potential bipolar affective disorder susceptibility locus within chromosomal region 21q22.3. This locus contains two genes expressed in the brain - ADARB1 and TRPM2 - involved in regulating intracellular Ca2+ concentrations. The aim of this study was an identification of mutations in the coding sequences of ADARB1 and TRPM2 and their association with bipolar affective disorder. For that purpose we screened 60 patients with bipolar affective disorder and a control group of 66 subjects using single strand conformation polymorphism and sequence analysis. For rapid screening we performed restriction fragment length polymorphism analysis. Screening of bipolar affective disorder patients for mutations in TRPM2 led to identification of three novel and four known transitions. Two transitions resulted in the substitutions: R755C and A890V. Screening of the coding sequence of ADARB1 did not reveal any mutations except one already known transition. A comparison of the transition frequency in patients and controls does not support association of the detected mutations with bipolar affective disorder. According to our results, bipolar affective disorder may not be caused by mutations in ADARB1. However, this study does not exclude TRPM2 as a candidate gene since we have screened only about 30 per cent of the entire coding sequence of this large gene.

10

Conformation polymorphism in myogenin gene in pigs

51%

Nowak Z., Hermanowicz-Swierczek A., Charon K. M., Kulisiewicz J.

Animal Science Papers and Reports

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2003

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tom 21

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nr 4

Conformation polymorphism (SSCP) in exons 1-3 of myogenin gene was analysed in two groups of fatteners, both out of crossbred sows (Polish Large White × Polish Landrace) sired by Duroc (group I) or Duroc × Pietrain (group II) boars. The total DNA was isolated from a whole blood using phenol/chloroform extraction. Amplifications of exons was carried out using PCR method and primers designed by computer software “Primer 3” (www.genome.wi.mit.edu).Exon 1 showed low polymorphism with two SSCP patterns: A (two bands) in 98% of group I and 94% of group I, and E (three bands) in 2% of group I and 6% of group II fatteners. Exon 2 in all fatteners was found monomorphic. Exon 3 showed high polymorphism with four SSCP patterns:A, B, C and D (one to three bands). Most frequently observed was pattern A (88% in group I and 82% in group II), while the remaining patterns occurred in 2-10% of fatteners. Sequence analysis of conformation patterns did not show any mutation sites.

11

SNPs in the porcine PPARGC1A gene: interbreed differences and their phenotypic effects

51%

Stachowiak M., Szydlowski M., Cieslak J., Switonski M.

Cellular and Molecular Biology Letters

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2007

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tom 12

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nr 2

Due to its function, the peroxisome proliferative activated receptor-γ, coactivator-1α (PPARGC1A) gene is a candidate in the search for genes that may affect production traits in the pig. The purpose of this study was to screen for new SNPs in exon 8 of the porcine PPARGC1A gene and to test their possible association with production traits. Altogether 736 pigs representing five breeds Polish Landrace, n=242; Polish Large White, n=192; Hampshire, n=27; Duroc, 21; Pietrain, n=12) and synthetic line 990 (n=242) were scanned via SSCP assay. Four SNPs were found; two new ones: C/G (His338Gln) and G/A Thr359Thr), and two previously reported ones: C/A (Arg369Arg) and T/A Cys430Ser). The missense T/A and C/G SNPs demonstrated pronounced interbreed variability in terms of allele frequencies, including the exclusive presence of the C/G substitution in the Hampshire breed. The tested SNPs occurred in five putative haplotypes, and their frequency also differed substantially between breeds. The association of the SNPs with production traits was tested for G/A (Thr359Thr), C/A (Arg369Arg) and T/A (Cys430Ser) substitutions in Polish Large White, Polish Landrace and line 990. The analysis revealed only breed-specific associations. The T/A (Cys430Ser) SNP was related to the feed conversion ratio in the Polish Large White (P=0.02), and the silent G/A and C/A substitutions were respectively associated with abdominal fat in line 990 and backfat thickness in Polish Landrace (P=0.04). The combined effects of the substitutions were estimated as haplotype effects. Three significant contrasts between haplotypes were calculated, but the observed associations were again only breed-specific.

12

PCR methods in meat species identification as a tool for the verification of regional and traditional meat products

41%

Spychaj A., Mozdziak P. E., Pospiech E.

Acta Scientiarum Polonorum. Technologia Alimentaria

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2009

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tom 08

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nr 2

5-20

In the times of industrial food production, regional and traditional food articles provide an attractive alternative for people looking for unforgettable sensory impressions. Regional or traditional food, commonly recognized as palatable and healthy, is also, for many consumers, a unique, sentimental journey back to tastes from childhood times. A gradual increase of demand for this type of food articles as well as relatively high prices of these products may generate among unscrupulous food manufacturers a number of improper production practices, e.g. replacement of a more expensive meat by a less expensive alternative. Species composition of meat products can be verified using chromatographic, immunological, electrophoretic, or genetic methods. One of the genetic methods applied in examining the authenticity of food composition, including meat and its products, is the polymerase chain reaction (PCR). This paper presents the most important techniques utilizing this technology to identify the origin of specific meat components constituting part of regional or traditional food articles. It was demonstrated that PCR techniques, in combination with species-specific primers, PCR-RFLP, PCR-SSCP and real-time PCR, allow identification of meat species occurring in-dependently or in mixtures with other meat species as well as meat subjected to thermal treatment or other technological processes in the course of industrial production. The only exception is the PCR-RAPD method that fails to identify meat species in the case of strong DNA degradation or in complex meat mixtures

13

Plasmodium falciparum Pfs25 gene promoter has no polymorphism in natural isolates of Eastern India

41%

Raj D. K., Mishra S., Das B. R., Dash A. P.

Acta Protozoologica

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2005

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tom 44

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nr 4

Ograniczanie wyników

Faster and cheaper PCR on a standard thermocycler

Simultaneous SSCP genotyping of coding and regulatory fragments of bovine beta-lactoglobulin gene

Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia

Three novel single nucleotide polymorphisms of the 3-hydroxy-3-methylglutaryl coenzyme A reductase gene associated with egg-production in chicken

Novel SNP of the goat prolactin gene [PRL] associated with cashmere traits

Native nucleic acid electrophoresis as an efficient alternative for genotyping method of influenza virus

Genotyping of bovine beta-lactoglobulin [LGB] by PCR-SSCP technique

SSCP polymorphism within 5' region of bovine lactoglobulin [LGB] gene

Screening of chromosomal region 21q22.3 for mutations in genes associated with neuronal Ca2plus signalling in bipolar affective disorder

Conformation polymorphism in myogenin gene in pigs

SNPs in the porcine PPARGC1A gene: interbreed differences and their phenotypic effects

PCR methods in meat species identification as a tool for the verification of regional and traditional meat products

Plasmodium falciparum Pfs25 gene promoter has no polymorphism in natural isolates of Eastern India