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master's thesis
VARIJANTE SEKVENCE U MTHFR GENU I DNA METILACIJA U IDIOPATSKIM SPONTANIM PRIJEVREMENIM PORODIMA
Rijeka: University of Rijeka, Faculty of Medicine, 2020. urn:nbn:hr:184:210952
Šverko, Roberta
University of Rijeka
Faculty of Medicine
Department of Biology and Medical Genetics

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

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Šverko, R. (2020). VARIJANTE SEKVENCE U MTHFR GENU I DNA METILACIJA U IDIOPATSKIM SPONTANIM PRIJEVREMENIM PORODIMA (Master's thesis). Rijeka: University of Rijeka, Faculty of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:210952

Šverko, Roberta. "VARIJANTE SEKVENCE U MTHFR GENU I DNA METILACIJA U IDIOPATSKIM SPONTANIM PRIJEVREMENIM PORODIMA." Master's thesis, University of Rijeka, Faculty of Medicine, 2020. https://urn.nsk.hr/urn:nbn:hr:184:210952

Šverko, Roberta. "VARIJANTE SEKVENCE U MTHFR GENU I DNA METILACIJA U IDIOPATSKIM SPONTANIM PRIJEVREMENIM PORODIMA." Master's thesis, University of Rijeka, Faculty of Medicine, 2020. https://urn.nsk.hr/urn:nbn:hr:184:210952

Šverko, R. (2020). 'VARIJANTE SEKVENCE U MTHFR GENU I DNA METILACIJA U IDIOPATSKIM SPONTANIM PRIJEVREMENIM PORODIMA', Master's thesis, University of Rijeka, Faculty of Medicine, accessed 30 April 2024, https://urn.nsk.hr/urn:nbn:hr:184:210952

Šverko R. VARIJANTE SEKVENCE U MTHFR GENU I DNA METILACIJA U IDIOPATSKIM SPONTANIM PRIJEVREMENIM PORODIMA [Master's thesis]. Rijeka: University of Rijeka, Faculty of Medicine; 2020 [cited 2024 April 30] Available at: https://urn.nsk.hr/urn:nbn:hr:184:210952

R. Šverko, "VARIJANTE SEKVENCE U MTHFR GENU I DNA METILACIJA U IDIOPATSKIM SPONTANIM PRIJEVREMENIM PORODIMA", Master's thesis, University of Rijeka, Faculty of Medicine, Rijeka, 2020. Available at: https://urn.nsk.hr/urn:nbn:hr:184:210952

Metadata
TitleVARIJANTE SEKVENCE U MTHFR GENU I DNA METILACIJA U IDIOPATSKIM SPONTANIM PRIJEVREMENIM PORODIMA
Title (english)SEQUENCE VARIANTS IN MTHFR GENE AND DNA METHYLATION IN IDIOPATHIC SPONTANEOUS PRETERM BIRTH
AuthorRoberta Šverko
MentorNina Pereza (mentor)
Committee memberSaša Ostojić (predsjednik povjerenstva)
Committee memberSmiljana Ristić (član povjerenstva)
Committee memberJadranka Vraneković (član povjerenstva)
GranterUniversity of Rijeka
Faculty of Medicine
(Department of Biology and Medical Genetics)
Rijeka
Defense date and country2020-07-17, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Abstract
Cilj: Metilentetrahidrofolat reduktaza (MTHFR) je enzim koji remetilira i odstranjuje homocistein iz organizma, aminokiselinu koja u visokim razinama može dovesti do oštećenja krvnih žila. DNA metilacija je epigenetički mehanizam čija razina ima bitnu ulogu u raznim bolestima. Radi se o promjenama u (epi)genetičkom materijalu koje su međusobno povezane i mogle bi imati utjecaj na tijek trudnoće. Cilj ovog završnog rada bio je istražiti povezanost između MTHFR C677T SNP-a jednog nukleotida i prijevremenog poroda (PP) u žena hrvatske i slovenske populacije te provesti sustavni pregled literature o povezanosti između razine DNA metilacije i PP-a. Ispitanici i metode: U naše istraživanje bilo je uključeno 50 žena s PP-om i 50 žena kontrola. Genotipizacija MTHFR C677T provedena je kombinacijom polimerazne lančane reakcije (engl. polymerase chain reaction, PCR) i polimorfizma dužine restrikcijskih fragmenata (engl. restriction fragment-lenght polymorphism, RFLP). Sustavni pregled literature izvršen je pomoću baza podataka PubMed i Scopus, a odabrani su izvorni znanstveni članci na engleskom jeziku. Rezultati: Nisu utvrđene statistički značajne razlike u frekvenciji genotipa i alela MTHFR C677T između žena s PP-om i žena kontrolne skupine, po nijednom genetičkom modelu. Pretraživanjem literature pronađeno je četiri članka koja su istraživala povezanost DNA metilacije s PP-om, ali s oprečnim rezultatima. Zaključak: MTHFR C677T ne povećava predispoziciju za PP u žena europske populacije. Na temelju provedenog sustavnog pregleda literature i oprečnih rezultata ne mogu se donijeti konačni zaključci o ulozi MTHFR C677T polimorfizma jednog nukleotida i DNA metilacije kao čimbenika podložnosti za PP. Potrebna su dodatna istraživanja
Abstract (english)
Aim: Methylenetetrahydrofolate reductase (MTHFR) is an enzyme important for remethylation of homocysteine, a toxic amino acid that can lead to the damage of blood wessels. DNA methylation is an epigenetic mechanism with a significant role in many diseases. Both are associated with various pathological conditions and could also have an essential role during pregnancy. We tried to determine the connection between MTHFR C677T polymorphism and preterm birth (PTB) in Croatian and Slovenian women and conducted a systematic review on the role of DNA methylation as a predisposing factor for PTB. Patients and methods: In our case-control study we included 50 women with PB and 50 control women. The MTHFR C677T polymorphism was identified using the combination of polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). We used PubMed and Scopus to search for original scientific articles in English. Results: We found no statistically significant difference in the frequency of MTHFR C677T polymorphism between the women with PTB and the control women. Also, no association was detected under all genetic models. We identified four articles that studied the association between DNA methylation and PTB in the literature search, with different results. Conclusion: The MTHFR C677T polymorphism is not a predisposing factor for PTB in Croatian and Slovenian women. Based on our systematic review, there is no conclusive connection between DNA methylation and PTB. Additional studies are needed.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:184:210952
Study programmeTitle: Medicine
Study programme type: university
Study level: integrated undergraduate and graduate
Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2020-11-30 13:19:40