Povezanost polimorfizama gena nasljedne trombofilije s pojavom spontanog pobačaja u žena

master's thesis

• Title (english): The association of polymorphisms of hereditary trombophilia genes with appearance of spontaneous abortion in women
• Author: Lucija Milićević
• Mentor: Ivanka Mikulić (mentor)
• Mentor: Nada Oršolić (komentor)
• Committee member: Nada Oršolić (predsjednik povjerenstva)
• Committee member: Jasna Lajtner (član povjerenstva)
• Committee member: Renata Šoštarić (član povjerenstva)
• Committee member: Perica Mustafić (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2022-09-26, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Spontani pobačaj je neizazvana smrt embrija ili fetusa ili izbacivanje produkta začeća prije 20.
tjedna trudnoće. Najčešći čimbenici spontanih pobačaja su kromosomske aberacije,
endokrinološke, infektivne i imunološke bolesti, anatomske abnormalnosti maternice ili
hiperkoagulabilna stanja. Postoji povezanost između nasljedne i stečene trombofilije i brojnih
komplikacija u trudnoći, uključujući intrauterini zastoj rasta ploda, spontani pobačaj,
preeklampsiju i abrupciju posteljice. Cilj ovog rada bio je istražiti povezanost genskih
polimorfizama faktora V Leiden FVQ506, faktora II Protrombin G20210A, metilentetrahidrofolatreduktaza (MTHFR) C677T, inhibitora aktivatora plazminogena (PAI-1-) -5675 4G/5G i faktora
FXIII G103T kod žena koje su imale spontani pobačaj te ih usporediti s genima žena koje nisu
imale spontani pobačaj. Također uspoređene su kombinirane alelne varijante ispitivanih genskih
polimorfizama između ispitivane i kontrolne skupine. Prema dobivenim rezultatima nije moguće
tvrditi da prisutnost nekog od haplotipova značajno povećava izglede, odnosno vjerojatnost za
spontani pobačaj.

Abstract (english)

Spontaneous abortion is the unprovoked death of an embryo or fetus or the expulsion of the product
of conception before the 20th week of pregnancy. The most common causes of spontaneous
abortions are chromosomal aberrations, endocrinological, infections and immunological diseases,
anatomical abnormalities of the uterus or hypercoagulable conditions. There is connection between
hereditary and acquired thrombophilia and numerous preeclampsia and placental abruption. The
aim of this work was to investigate the association of gene polymorphisms of factor-V Leiden
FVQ506, factor II Protrombin G20210A, methylentetrahydrofolate reductase (MTHFR) C677T,
plasminogen activator inhibitor (PAI-1-) -5675 4G/5G and factor FXIII G103T in women who had
spontaneous miscarriage and compare them with alleles of the same genes of women who did not
have a miscarriage. The combined allelic variants of the tested gene polymorphisms between the
tested and control groups were compared as well. According to the obtained results, it is not
possible to claim that the presence of any haplotypes significantly increase the probability of
spontaneous abortion.

• Keywords: habitualni pobačaj; nasljedna trombofilija i polimorfizmi
• Keywords (english): habitual abortion; hereditary thrombophilia and polymorphisms
• Language: croatian
• URN:NBN: urn:nbn:hr:217:123414
• Study programme: Title: Experimental Biology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra eksperimentalne biologije (magistar/magistra eksperimentalne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2022-10-21 10:16:15