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National Repository of Grey Literature
12
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Clinical significance of cytokine gene polymorphism
Kolesár, Libor
;
Stříž, Ilja
(advisor) ;
Holáň, Vladimír
(referee) ;
Mrázek, František
(referee)
Univerzita Karlova v Praze Přírodovědecká fakulta Studijní program: Doktorský studijní program v biomedicíně Studijní obor: Imunologie Mgr. Libor Kolesár Klinický význam polymorfismu cytokinových genů Clinical significance of cytokine gene polymorphism Disertační práce Vedoucí závěrečné práce/Školitel: Prof. MUDr. Ilja Stříž, CSc Praha 2012 Abstract The human genome is full of different sequence variants. They are different mainly in size but also in their influence on phenotype. The smallest unit of genetic polymorphism is single nucleotide polymorphism (SNP). SNPs represent a single nucleotide change between two alleles and might affect the gene expression. We have studied SNPs in three distinct fields as: (1) marker of risky patients after the organ transplantation, (2) diagnostic marker of patients with interstitial lung diseases (ILD) or (3) with uterine fibroid (UF). We have come to the following results. Ethnicity or even nationality plays a role in the distribution of genetic polymorphism. This must be absolutely taken into account when one would like to transfer findings of a clinical study from a certain nation or ethnic and applied them to his studied group for the comparative purposes. Our first clinical gene-association study has found that even gene polymorphism of the IL-18 gene may...
Detailed record
Study of luteinizing hormone's and its receptor's polymorphisms in relation to development of ovarian hyperstimulation syndrome
Chrudimská, Jana
;
Macek, Milan
(advisor) ;
Schierová, Michaela
(referee)
Ovarian hyperstimulation syndrome (OHSS) is an iatrogenic complication in an assisted reproduction (ART), which can threaten the life of the patient. It is caused by an increased sensitivity of ovarian receptors to exogenous gonadotrophins during controlled ovarian hyperstimulation (COH) that is necessary for induction more than one oocyte. Treatment for this syndrome is symptomatic hence the emphasis is primarily on the prevention. The purpose of current reproduction genetics is to find risk markers, by which it could be possible to assess the sensitiveness of a hormonal receptor for luteinizing hormone (LH-R) and a receptor for follicle stimulating hormone (FSH-R) just before the start of the therapy. Individualization of the COH would decrease the risk of both, the OHSS, and the risk of canceling the COH through a poor ovarian response. Temporary, only FSH-R genotypes are studied in relation to an increased risk of OHSS and its severity. The aim of further studies is an ascertaining the possible impact of LH-R's and the luteinizing hormone's (LH) genotype on the final ovarian response during COH and other types of hormonal treatment. This bachelor's work summarizes the present knowledge of the possible connection of LH's and LH-R's polymorphisms to OHSS in continuum to findings gained about FSH-R.
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