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Genetics of suspected thrombophilia in Serbian females with infertility, including three cases, homozygous for FII 20210A or FV 1691A mutations
dc.creator | Đurović, Jelena | |
dc.creator | Stojković, Oliver | |
dc.creator | Todorović, Jelena | |
dc.creator | Brajić, Aleksandra | |
dc.creator | Stanković, Sanja | |
dc.creator | Obradović, Svetlana | |
dc.creator | Stamenković, Gorana | |
dc.date.accessioned | 2017-11-23T07:57:29Z | |
dc.date.available | 2017-11-23T07:57:29Z | |
dc.date.issued | 2016 | |
dc.identifier.uri | https://www.tandfonline.com/doi/full/10.1080/14647273.2016.1255785 | |
dc.identifier.uri | https://radar.ibiss.bg.ac.rs/handle/123456789/2595 | |
dc.description.abstract | Reproductive failure (recurrent foetal loss, unexplained infertility and IVF implantation failure) may be, in a number of cases, explained by thrombophilia, either acquired or inherited. Several genes contribute to thrombophilia, some with major effect (Factor V, Factor II), and some with minor effect (MTHFR, PAI-1, ATIII, etc.). The aim of this study was to estimate frequency of thrombophilia-associated genotypes (FII20210G > A, FV1691G > A, MTHFR677C > T and PAI-1 -675 4G/5G) in a group of 1631 Serbian women experiencing reproductive failure, and compare it with a healthy, female control group. Our results showed marginally significant (p = 0.050) differences in allele frequencies between patients and controls for the FV1691 mutations. For the FII20210G > A, although the statistical significance was not achieved (p = 0.076), we found higher frequency of variant allele in patients compared to controls (1.87% vs. 0.38%, respectively) which may point to a possible role of this polymorphism in thrombotic events. For the MTHFR677C > T and PAI-1 -675 4G/5G, we found no difference in distributions of genotype or allele frequencies between these two groups (p > 0.05). For three subjects with very rare genotypes (two patients homozygous for FV1691G > A and one patient homozygous for FII20210G > A) we performed additional biochemical analyses for haemostasis, as well as genotyping of two polymorphisms (MTHFR1298A > C and ATIII786G > A). | en |
dc.rights | restrictedAccess | |
dc.source | Human Fertility | |
dc.subject | ATIII | |
dc.subject | FII 20210 G > A | |
dc.subject | FV leiden | |
dc.subject | Female infertility | |
dc.subject | MTHFR | |
dc.subject | PAI-1 | |
dc.subject | Homozygous mutation | |
dc.subject | Inherited thrombophilia | |
dc.title | Genetics of suspected thrombophilia in Serbian females with infertility, including three cases, homozygous for FII 20210A or FV 1691A mutations | en |
dc.type | preprint | |
dc.rights.license | ARR | |
dcterms.abstract | Стаменковић, Горана; Ђуровић, Јелена; Стојковић, Оливер; Тодоровић, Јелена; Брајић, Александра; Станковић, Сања; Обрадовић, Светлана | |
dc.description.other | Human Fertility (2016) | |
dc.identifier.doi | 10.1080/14647273.2016.1255785 | |
dc.identifier.pmid | 27855570 | |
dc.identifier.scopus | 2-s2.0-84995639970 | |
dc.identifier.wos | 000400368400010 | |
dc.citation.apa | Djurovic, J., Stojkovic, O., Todorovic, J., Brajic, A., Stankovic, S., Obradovic, S., & Stamenkovic, G. (2016). Genetics of suspected thrombophilia in Serbian females with infertility, including three cases, homozygous for FII 20210A or FV 1691A mutations. Human Fertility, "in press". | |
dc.citation.vancouver | Djurovic J, Stojkovic O, Todorovic J, Brajic A, Stankovic S, Obradovic S, Stamenkovic G. Genetics of suspected thrombophilia in Serbian females with infertility, including three cases, homozygous for FII 20210A or FV 1691A mutations. Hum Fertil. 2016;DOI:10.1080/14647273.2016.1255785. | |
dc.citation.spage | 1 | |
dc.citation.epage | 8 | |
dc.type.version | acceptedVersion | |
dc.citation.rank | M23 |
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