prikaz prve stranice dokumenta Methyltetrahydrofolate-homocysteine methyltransferase reductase gene and congenital heart defects in Down syndrome
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Methyltetrahydrofolate-homocysteine methyltransferase reductase gene and congenital heart defects in Down syndrome
Genetics&Applications, 4 (2020), 1; 12-17. https://doi.org/10.31383/ga.vol4iss1pp12-17
Vraneković, Jadranka; Slivšek, Goran; Majstorović, Dijana

Institucijski repozitorij: Repozitorij Medicinskog fakulteta u Rijeci

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Vraneković, J., Slivšek, G. i Majstorović, D. (2020). Methyltetrahydrofolate-homocysteine methyltransferase reductase gene and congenital heart defects in Down syndrome. Genetics&Applications, 4. (1), 12-17. doi: 10.31383/ga.vol4iss1pp12-17

Vraneković, Jadranka, et al. "Methyltetrahydrofolate-homocysteine methyltransferase reductase gene and congenital heart defects in Down syndrome." Genetics&Applications, vol. 4, br. 1, 2020, str. 12-17. https://doi.org/10.31383/ga.vol4iss1pp12-17

Vraneković, Jadranka, Goran Slivšek i Dijana Majstorović. "Methyltetrahydrofolate-homocysteine methyltransferase reductase gene and congenital heart defects in Down syndrome." Genetics&Applications 4, br. 1 (2020): 12-17. https://doi.org/10.31383/ga.vol4iss1pp12-17

Vraneković, J., Slivšek, G. i Majstorović, D. (2020) 'Methyltetrahydrofolate-homocysteine methyltransferase reductase gene and congenital heart defects in Down syndrome', Genetics&Applications, 4(1), str. 12-17. doi: 10.31383/ga.vol4iss1pp12-17

Vraneković J, Slivšek G, Majstorović D. Methyltetrahydrofolate-homocysteine methyltransferase reductase gene and congenital heart defects in Down syndrome. Genetics&Applications [Internet]. 2020. [pristupljeno 10.05.2024.];4(1):12-17. doi: 10.31383/ga.vol4iss1pp12-17

J. Vraneković, G. Slivšek i D. Majstorović, "Methyltetrahydrofolate-homocysteine methyltransferase reductase gene and congenital heart defects in Down syndrome", Genetics&Applications, vol. 4, br. 1, str. 12-17, 2020. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:538816. [Citirano: 10.05.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:184:538816
Podaci o radu
Naslov (engleski)Methyltetrahydrofolate-homocysteine methyltransferase reductase gene and congenital heart defects in Down syndrome
AutorJadranka Vraneković
AutorGoran Slivšek
AutorDijana Majstorović
Autorova ustanovaSveučilište u Rijeci
Medicinski fakultet
(Katedra za medicinsku biologiju i genetiku)
Znanstveno / umjetničko
područje, polje i grana		PRIRODNE ZNANOSTI
Interdisciplinarne prirodne znanosti
Sažetak (engleski)
Congenital heart defects (CHD) are the most common abnormalities occurring in 40% -60% of Down syndrome (DS) patients. The 5- methyltetrahydrofolate homocysteine methyl transferase reductase (MTRR) is one of the key regulatory enzymes involved in folate pathway. Disrupted folate pathway due to MTRR polymorphism could be a risk factor for CHD in DS. The aim of the study was to determine the association between polymorphism MTRR 66A> G and CHD in DS. Additionally, the impact of maternal endogenous factors on CHD was analyzed, intake of folate through diet, periconceptional folic acid supplementation, smoking and alcohol drinking. A total of 155 children with DS and 148 their mothers have been enrolled in this study. Genotyping was performed by PCR-RFLP. The frequency of alleles and genotypes of MTRR 66A> G polymorphisms was not significantly different between a group with CHD compared to a group without CHD among DS subjects as well as in their mothers. The mothers with mutated homozygous genotypes who have taken folic acid preparations from the fourth week before pregnancy to eight weeks of pregnancy were more likely to have DS-CHD+ child. The study results suggested that maternal MTRR 66A> G polymorphisms associated with their lifestyle habits such as folic acid intake could altered individual risk for CHD in DS child
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaGenetics&Applications
Brojčani podacivol. 4, br. 1, str. 12-17
p-ISSN2566-2937
DOIhttps://doi.org/10.31383/ga.vol4iss1pp12-17
URN:NBNurn:nbn:hr:184:538816
Datum objave publikacije2020
ProjektŠifra: uniri-biomed-18-230
Naziv (hrvatski): Epigenetički i genetički čimbenici u etiologiji prirođenih srčanih grešaka u osoba sa sindromom Down
Kratica: NadSve-Sveučilište u Rijeci-uniri-biomed-18-230
Voditelj: Jadranka Vraneković
Pravna nadležnost: Hrvatska
Financijer: UNIRI
Linija financiranja: Sveučilište u Rijeci - Sveučilište u Rijeci
URL dokumentahttp://bib.irb.hr/1126115
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje-Nekomercijalno 4.0 međunarodna (CC BY-NC 4.0)
Datum i vrijeme pohrane2022-03-16 09:31:13