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Wyświetlanie 1-2 z 2
Tytuł:
Evaluation of the activity of thermostable DNA polymerases in the presence of heme, as a key inhibitor in the real time PCR method in diagnostics of sepsis
Autorzy:
Gosiewski, Tomasz
Brzychczy-Włoch, Monika
Pietrzyk, Agata
Sroka, Agnieszka
Bulanda, Małgorzata
Powiązania:
https://bibliotekanauki.pl/articles/1039451.pdf
Data publikacji:
2013
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
polymerase inhibitor
heme
real time PCR
sepsis
Opis:
The study aim was evaluation of the usefulness of several thermostable DNA polymerases in real time PCR conducted in the presence of the heme. Our study had the advantage of testing several different polymerases, one of which proved to be the least sensitive to heme activity. We also found that there is no need of supplementing the reaction mixture with protective substances like BSA. Selection of the appropriate polymerase can increase the efficiency of the PCR reaction which is very important for diagnosis of sepsis and for other analyses performed on DNA template isolated from the blood.
Źródło:
Acta Biochimica Polonica; 2013, 60, 4; 603-606
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness
Autorzy:
Bik-Multanowski, Miroslaw
Kaluzny, Lukasz
Mozrzymas, Renata
Oltarzewski, Mariusz
Starostecka, Ewa
Lange, Agata
Didycz, Bozena
Gizewska, Maria
Ulewicz-Filipowicz, Jolanta
Chrobot, Agnieszka
Mikoluc, Bozena
Szymczakiewicz-Multanowska, Agnieszka
Cichy, Wojciech
Pietrzyk, Jacek
Powiązania:
https://bibliotekanauki.pl/articles/1039453.pdf
Data publikacji:
2013
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
PKU
hyperphenylalaninemia
inborn error of metabolism
dietary treatment
genetic epidemiology
Opis:
Tetrahydrobiopterin (BH4) has been recently approved as a treatment of patients with phenylketonuria. However, as a confirmation of BH4-responsiveness, it might require a very expensive trial treatment with BH4 or prolonged BH4-loading procedures. The selection of patients eligible for BH4-therapy by means of genotyping of the PAH gene mutations may be recommended as a complementary approach. A population-wide genotyping study was carried out in 1286 Polish phenyloketonuria-patients. The aim was to estimate the BH4 demand and to cover prospectively the treatment by a National Health Fund. A total of 95 types of mutations were identified. Genetic variants corresponding with probable BH4-responsiveness were found in 28.2% of cases. However, patients with mild or classical phenylketonuria who require continuous treatment accounted for 11.4% of the studied population only. Analysis of the published data shows similar percentage of the "BH4-responsive" variants of a PAH gene in patients from other countries of Eastern Europe. Therefore, it can be concluded, that the proportion of phenylketonuria-patients who could benefit from the use of BH4 reaches approximately 10% in the entire region.
Źródło:
Acta Biochimica Polonica; 2013, 60, 4; 613-616
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
    Wyświetlanie 1-2 z 2

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