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  • Analysis of selected polymorphisms in genes of the folate pathway and their association with the risk of congenital heart defects = Analys av valda polymorfier i folatomsättningen och deras associerade risk för medfödda hjärtdefekter : [projektna naloga]
    Andersson, Betty
    Congenital heart defects (CHD) are the most common congenital anomaly among infants with a birth prevalence that varies from 4-10 per 1000 live births worldwide. The epidemiology is complex and ... involves both genetic and environmental risk factors and as such the cause of most CHDs is assumed to be of multifactorial origin. Studies have showed that intake of folate supplements during the pregnancy may reduce the risk of CHD in the fetus. Folate belongs to the group B vitamins and is an important enzymatic cofactor that accepts and donates a single-carbon (1C) unit in several reactions in human body. It plays a central role in the synthesis of thymidylate and purines, which are vital for replication and synthesis of DNA. This case-control study aims to investigate the association of three single-nucleotide polymorphisms in the FPGS (rs1544105), DHFR (rs1677693) and SLC19A1 (rs1051266) genes with the risk for congenital heart defects. The control group consisted of 200 mother-child pairs and the case group consisted of 150 mothers with children diagnosed with CHD as primary syndrome. The polymorphisms were analyzed with TaqMan% SNP Genotyping Assays and LightSNIP Genotyping Assay using real-time polymerase chain reaction. The statistical analyses showed that there were no statistically significant differences (p>0,05) in genotype frequencies for any of the polymorphisms between the control and case group. In order to investigate the association between folate metabolism and CHD more parameters needs to be included in the analysis, such as folate intake during pregnancy, gender of the child, maternal age and other polymorphisms in the folate pathway.
    Vrsta gradiva - diplomsko delo ; neleposlovje za odrasle
    Založništvo in izdelava - Ljubljana : [B. Andersson], 2015
    Jezik - angleški
    COBISS.SI-ID - 4616817

Nobena knjižnica v sistemu COBISS.SI nima izvoda tega gradiva.
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