20.500.12556/DKUM-65321 MTHFR C677T and A1298C genotypes and haplotypes in Slovenian couples with unexplained infertility problems and in embryonic tissues from spontaneous abortions The objective of this study was to analyze the methylenetetrahydrofolate reductases (MTHFRs) C677T and A1298C genotype distributions in couples with unexplained fertility problems (UFP) and healthy controls, and to analyze the genotype and haplotype distribution in spontaneously aborted embryonic tissues (SAET) using allele specific polymerase chain reaction (PCR) in 200 probands with UFP, 353 samples of SAET and 222 healthy controls. The analysis revealed a significant overall representation of the 677T allele in male probands from couples with UFP (p = 0.036). The combined genotype distribution for both MTHFR polymorphisms was also significantly altered (χ2 21.73, p <0.001) although female probands made no contribution (c2 1.33, p = 0.72). The overall representation of the 677T allele was more pronounced in SAET (0.5 vs. 0.351 in controls, p <0.001) regardless of the karyotype status (aneuploidy vs. normal karyotype). In addition, the frequencies of the CA and CC haplotypes were significantly lower than in the control group (p = 0.021 and p = 0.001, respectively), whereas the frequency of the TC haplotype was significantly higher than in controls (p <0.0001). The presented findings indicate that only male probands contribute to the association of MTHFR mutations with fertility problems in grown adults and demonstrate a high prevalence of mutated MTHFR genotypes in SAET. methylenetetrahydrofolate reductase (MTHFR) genotype haplotype infertility miscarriage metilentetrahidrofolat reduktaza genski polimorfizem genotip haplotip neplodnost spontani splav zarodek true false true Angleški jezik Slovenski jezik Znanstveno delo 2017-03-30 15:28:24 2017-03-30 15:29:33 2022-07-07 03:09:19 2019-07-11 15:14:31 2013 0 0 str. 31-39 št. 1 Letn. 16 2013 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 1311-0160 618.39-021.3 21017133 4757823 1311-0160 URN:SI:UM:DK:KRBXHYTS Balkan_Journal_of_Medical_Genetics_2013_Stangler_Herodez_et_al._MTHFR_C677T_and_A1298C_Genotypes_and_Haplotypes_in_Slovenian_Couples_wit.pdf Balkan_Journal_of_Medical_Genetics_2013_Stangler_Herodez_et_al._MTHFR_C677T_and_A1298C_Genotypes_and_Haplotypes_in_Slovenian_Couples_wit.pdf 1 51BFC4EC0D8593C961B5321D03FF018B 766f73e7c03551986101968dbb63018433c29401ed9ab21b9e010daee2a43386 0a67f635-7c0e-11eb-bb7a-00155d0001ca https://dk.um.si/Dokument.php?lang=slv&id=110366 http://www.degruyter.com/view/j/bjmg.2013.16.issue-1/bjmg-2013-0015/bjmg-2013-0015.xml 1 https://dk.um.si/Dokument.php?lang=slv&id=110365 Medicinska fakulteta 0 0 0