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Title:MTHFR C677T and A1298C genotypes and haplotypes in Slovenian couples with unexplained infertility problems and in embryonic tissues from spontaneous abortions
Authors:Stangler Herodež, Špela (Author)
Zagradišnik, Boris (Author)
Erjavec Škerget, Alenka (Author)
Zagorac, Andreja (Author)
Takač, Iztok (Author)
Vlaisavljević, Veljko (Author)
Lokar, Lidija (Author)
Kokalj-Vokač, Nadja (Author)
Files:.pdf Balkan_Journal_of_Medical_Genetics_2013_Stangler_Herodez_et_al._MTHFR_C677T_and_A1298C_Genotypes_and_Haplotypes_in_Slovenian_Couples_wit.pdf (266,46 KB)
URL http://www.degruyter.com/view/j/bjmg.2013.16.issue-1/bjmg-2013-0015/bjmg-2013-0015.xml
Work type:Scientific work (r2)
Typology:1.01 - Original Scientific Article
Organization:MF - Faculty of Medicine
Abstract: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.
Keywords:methylenetetrahydrofolate reductase (MTHFR), genotype, haplotype, infertility, miscarriage
Year of publishing:2013
Number of pages:str. 31-39
Numbering:št. 1, Letn. 16
ISSN on article:1311-0160
COBISS_ID:4757823 Link is opened in a new window
License:CC BY-NC-ND 4.0
This work is available under this license: Creative Commons Attribution Non-Commercial No Derivatives 4.0 International
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Record is a part of a journal

Title:Balkan Journal of Medical Genetics
Shortened title:Balk. J. Med. Genet.
Publisher:De Gruyter Open
COBISS.SI-ID:21017133 New window

Secondary language

Keywords:metilentetrahidrofolat reduktaza, genski polimorfizem, genotip, haplotip, neplodnost, spontani splav, zarodek


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