20.500.12556/DKUM-65319 Detection of mutations in the CYP21A2 gene genotype-phenotype correlation in Slovenian couples with conceiving problems The objective of this study was to compare the CYP 21A2 genetic profiles of couples with unexplained fertility problems (UFP) with genetic profiles of healthy controls (HCs). Furthermore, we analyzed associations between mutations in the CYP21A2 gene and various clinical and laboratory parameters. Allele-specific polymerase chain reaction (PCR) was used in 638 probands with UFP and 200 HCs. Statistic analysis with χ2 was used to study the association of mutations with infertility. The effect of mutations on particular clinical and laboratory parameters was assessed with the analysis of variance (ANOVA) test. With regard to the CYP21A2 gene, 0.6% of probands with UFP and 0.5% of HCs were positive for the c.290-13A/C>G mutation; 0.6% of probands with UFP and 1.5% of HCs were positive for the p.I172N mutation; there were no probands with UFP positive for the p.P30L mutation, whereas 0.5% of HCs were; and 0.2% of probands with UFP and 0.5% of HCs were found to have the p.V281L mutation. We found a significant association between c.290-13A/C>G mutation and the frequency of significant hormone deviations (χ2 = 6.997, p = 0.008). Similar association was also observed between the c.29013A/C>G mutation and the frequency of polycystic ovary syndrome (PCOS) (χ2 = 16.775, p = 0.000). Our findings indicate that no significant difference in the prevalence of CYP 21A2 mutations can be found in probands with UFP when compared with HCs without infertility history. The results also imply the significant association of the c.290-13A/ C>G mutation in the CYP21A2 gene, not only with the frequency of PCOS, but also with the frequency of significant hormone deviations. CYP21A2 gene genetics infertility mutations unexplained infertility problems (UFP) healthy controls (HCs) gen CYP21A2 geni genetika genske mutacije neplodnost polimerazna verižna reakcija nepojasnjena neplodnost true false true Angleški jezik Slovenski jezik Znanstveno delo 2017-03-30 15:14:04 2017-03-30 15:20:09 2022-07-07 03:09:18 2019-07-11 15:14:27 2015 0 0 str. 25-32 št. 2 Letn. 18 2015 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 1311-0160 616.697 21017133 5703743 10.1515/bjmg-2015-0082 1311-0160 URN:SI:UM:DK:QV3JDGTS Balkan_Journal_of_Medical_Genetics_2015_Stangler_Herodez_et_al._Detection_of_mutations_in_the_CYP21A2_gene_genotype-phenotype_correlatio.pdf Balkan_Journal_of_Medical_Genetics_2015_Stangler_Herodez_et_al._Detection_of_mutations_in_the_CYP21A2_gene_genotype-phenotype_correlatio.pdf 1 A04670E3827E8F61DB2360A7AC504B36 eacad5d9d3b6a40cd98af7bee14af05b586c5de524c78ae42156fb8472769125 0a48c621-7c0e-11eb-bb7a-00155d0001ca https://dk.um.si/Dokument.php?lang=slv&id=110362 http://www.degruyter.com/view/j/bjmg.2015.18.issue-2/bjmg-2015-0082/bjmg-2015-0082.xml 1 https://dk.um.si/Dokument.php?lang=slv&id=110361 Medicinska fakulteta 0 0 0