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5, 10-Methylenetetrahydrofolate Reductase (MTHFR) 677 C->T Genetic Polymorphism in 228 Croatian Volunteers

Ivo Lovričević
Björn Dario Franjić
Maja Tomičić
Nada Vrkić
Drago De Syo
Narcis Hudorović
Zdenko Sonicki
Robert Lončar

Puni tekst: engleski, pdf (98 KB) str. 647-654 preuzimanja: 853* citiraj
APA 6th Edition
Lovričević, I., Franjić, B.D., Tomičić, M., Vrkić, N., De Syo, D., Hudorović, N., ... Lončar, R. (2004). 5, 10-Methylenetetrahydrofolate Reductase (MTHFR) 677 C->T Genetic Polymorphism in 228 Croatian Volunteers. Collegium antropologicum, 28 (2), 647-654. Preuzeto s https://hrcak.srce.hr/5589
MLA 8th Edition
Lovričević, Ivo, et al. "5, 10-Methylenetetrahydrofolate Reductase (MTHFR) 677 C->T Genetic Polymorphism in 228 Croatian Volunteers." Collegium antropologicum, vol. 28, br. 2, 2004, str. 647-654. https://hrcak.srce.hr/5589. Citirano 03.08.2020.
Chicago 17th Edition
Lovričević, Ivo, Björn Dario Franjić, Maja Tomičić, Nada Vrkić, Drago De Syo, Narcis Hudorović, Zdenko Sonicki i Robert Lončar. "5, 10-Methylenetetrahydrofolate Reductase (MTHFR) 677 C->T Genetic Polymorphism in 228 Croatian Volunteers." Collegium antropologicum 28, br. 2 (2004): 647-654. https://hrcak.srce.hr/5589
Harvard
Lovričević, I., et al. (2004). '5, 10-Methylenetetrahydrofolate Reductase (MTHFR) 677 C->T Genetic Polymorphism in 228 Croatian Volunteers', Collegium antropologicum, 28(2), str. 647-654. Preuzeto s: https://hrcak.srce.hr/5589 (Datum pristupa: 03.08.2020.)
Vancouver
Lovričević I, Franjić BD, Tomičić M, Vrkić N, De Syo D, Hudorović N i sur. 5, 10-Methylenetetrahydrofolate Reductase (MTHFR) 677 C->T Genetic Polymorphism in 228 Croatian Volunteers. Collegium antropologicum [Internet]. 2004 [pristupljeno 03.08.2020.];28(2):647-654. Dostupno na: https://hrcak.srce.hr/5589
IEEE
I. Lovričević, et al., "5, 10-Methylenetetrahydrofolate Reductase (MTHFR) 677 C->T Genetic Polymorphism in 228 Croatian Volunteers", Collegium antropologicum, vol.28, br. 2, str. 647-654, 2004. [Online]. Dostupno na: https://hrcak.srce.hr/5589. [Citirano: 03.08.2020.]

Sažetak
5, 10-Methylenetetrahydrofolate Reductase (MTHFR) is one of the key enzymes in the metabolism of homocysteine, where it catalyses its remethylation. The autosomal recessive bp 677 C->T mutation in the MTHFR gene leads to the substitution of valine for alanine. Individuals who are homozygous for this C677T mutation exhibit a decreased specific activity and increased thermolability of this enzyme. This leads to increased plasma levels of homocysteine, which is a known risk factor for atherosclerosis and various manifestations of the atherosclerotic disease. The aim of this study was to find out the distribution and frequency of this mutation in the general Croatian population. A group of 228 volunteers (175 males and 53 females) has been analyzed for the MTHFR polymorphism, which revealed the following distribution: 105 (46.05%) individuals were without mutation (C/C), 102 (44.74%) were heterozygous (C/T) and 21 (9.21%) homozygous (T/T). These findings are within the results of studies on other European populations.

Ključne riječi
MTHFR; 5; 10-Methylentetrahydropholate reductase; homocistein; C677T; atherosclerosis; Croatia

Hrčak ID: 5589

URI
https://hrcak.srce.hr/5589

Posjeta: 1.142 *