Výskyt polymorfizmu C677T genu pro MTHFR v české populaci
Metyhlentetrahydrofolát reduktáza (MTHFR) je klíčový regulační enzym ve folátovém cyklu. Je zodpovědný za redukci 5,10-methylentetrahydrofolátu na 5-methyltetrahydrofolát, který je nezbytný pro remethylaci homocysteinu na methionin. Polymorfizmy genu pro MTHFR mohou způsobit nedostatečnou funkci toh...
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| Typ dokumentu: | VŠ práce nebo rukopis |
| Jazyk: | Čeština |
| Vydáno: |
2011
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| Témata: | |
| On-line přístup: | http://is.muni.cz/th/324329/prif_b/ |
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| 100 | 1 | |a Slezáková, Zuzana |% UČO 324329 |* [absolvent PřírF MU] |4 dis | |
| 242 | 1 | 0 | |a C677T polymorphism of MTHFR gene in Czech population |y eng |
| 245 | 1 | 0 | |a Výskyt polymorfizmu C677T genu pro MTHFR v české populaci |h [rukopis] / |c Zuzana Slezáková |
| 260 | |c 2011 | ||
| 300 | |a 29 l. : |b il. | ||
| 500 | |a Vedoucí práce: Omar Šerý | ||
| 502 | |a Bakalářská práce (Bc.)--Masarykova univerzita, Přírodovědecká fakulta, 2011 | ||
| 520 | 2 | |a Metyhlentetrahydrofolát reduktáza (MTHFR) je klíčový regulační enzym ve folátovém cyklu. Je zodpovědný za redukci 5,10-methylentetrahydrofolátu na 5-methyltetrahydrofolát, který je nezbytný pro remethylaci homocysteinu na methionin. Polymorfizmy genu pro MTHFR mohou způsobit nedostatečnou funkci tohoto enzymu a tím tedy zvýšit celkovou hladinu homocysteinu v plazmě. Nejběžnějšími jednonukleotidovými polymorfizmy genu pro MTHFR jsou C677T a A1298C. Cílem této práce bylo zjistit výskyt těchto dvou polymorfizmů v české populaci. Z celkového počtu 106 testovaných osob byly frekvence genotypů následující: 38,7% (CC), 47,2% (CT) a 14,1% (TT) pro polymorfizmus C677T a 37,7% (AA), 54,7% (AC), 7,6% (CC) pro polymorfizmus A1298C. |% cze | |
| 520 | 2 | 9 | |a Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme in folate cycle. It is responsible for reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate which is essential for homocysteine remethylation to methionin. Polymorphisms of the MTHFR gene may lead to lack of the enzym function and therefore to increase total plasma homocysteine. The most common single nucleotide polymorphisms of MTHFR gene are C677T and A1298C. The aim of this study was to determine incidence of theese polymorphisms in Czech population. 106 subjects were tested and genotype frequencies were as follows: 38,7% (CC), 47,2% (CT) a 14,1% (TT) for the polymorphism C677T and 37,7% (AA), 54,7% (AC), 7,6% (CC) for the polymorphism A1298C. |9 eng |
| 650 | 0 | 7 | |a A1298C |2 CZ-BrMU |
| 650 | 0 | 7 | |a C677T |2 CZ-BrMU |
| 650 | 0 | 7 | |a enzymy |7 ph119969 |2 czenas |
| 650 | 0 | 7 | |a homocystein |7 ph180720 |2 czenas |
| 650 | 0 | 7 | |a hyperhomocysteinémie |7 ph180719 |2 czenas |
| 650 | 0 | 7 | |a MTHFR |2 CZ-BrMU |
| 650 | 0 | 7 | |a polymorfismus |7 ph220680 |2 czenas |
| 650 | 0 | 9 | |a enzymes |2 eczenas |
| 650 | 0 | 9 | |a homocysteine |2 eczenas |
| 650 | 0 | 9 | |a hyperhomocysteinemia |2 eczenas |
| 650 | 0 | 9 | |a polymorphism |2 eczenas |
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| 710 | 2 | |a Masarykova univerzita. |b Ústav biochemie |7 ko2015866760 |4 dgg | |
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