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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:ID Stangler Herodež, Špela (Author)
ID Zagradišnik, Boris (Author)
ID Erjavec Škerget, Alenka (Author)
ID Zagorac, Andreja (Author)
ID Takač, Iztok (Author)
ID Vlaisavljević, Veljko (Author)
ID Lokar, Lidija (Author)
ID 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)
MD5: 51BFC4EC0D8593C961B5321D03FF018B
 
URL http://www.degruyter.com/view/j/bjmg.2013.16.issue-1/bjmg-2013-0015/bjmg-2013-0015.xml
 
Language:English
Work type:Scientific work
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
Publication status:Published
Publication version:Version of Record
Year of publishing:2013
Number of pages:str. 31-39
Numbering:Letn. 16, št. 1
PID:20.500.12556/DKUM-65321 New window
ISSN:1311-0160
UDC:618.39-021.3
ISSN on article:1311-0160
COBISS.SI-ID:4757823 New window
NUK URN:URN:SI:UM:DK:KRBXHYTS
Publication date in DKUM:30.03.2017
Views:1469
Downloads:318
Metadata:XML DC-XML DC-RDF
Categories:Misc.
:
STANGLER HERODEŽ, Špela, ZAGRADIŠNIK, Boris, ERJAVEC ŠKERGET, Alenka, ZAGORAC, Andreja, TAKAČ, Iztok, VLAISAVLJEVIĆ, Veljko, LOKAR, Lidija and KOKALJ-VOKAČ, Nadja, 2013, MTHFR C677T and A1298C genotypes and haplotypes in Slovenian couples with unexplained infertility problems and in embryonic tissues from spontaneous abortions. Balkan Journal of Medical Genetics [online]. 2013. Vol. 16, no. 1, p. 31–39. [Accessed 3 April 2025]. Retrieved from: https://dk.um.si/IzpisGradiva.php?lang=eng&id=65321
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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
ISSN:1311-0160
COBISS.SI-ID:21017133 New window

Licences

License:CC BY-NC-ND 4.0, Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
Link:http://creativecommons.org/licenses/by-nc-nd/4.0/
Description:The most restrictive Creative Commons license. This only allows people to download and share the work for no commercial gain and for no other purposes.
Licensing start date:30.03.2017

Secondary language

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


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