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MTHFR C677T and A1298C genotypes and haplotypes in Slovenian couples with unexplained infertility problems and in embryonic tissues from spontaneous abortionsStangler Herodež, Špela ...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 (chi2 21.73, p <0.001) although female probands made no contribution (chi2 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.Source: BJMG : Balkan journal of medical genetics. - ISSN 1311-0160 (Vol. 16, [no.] 1, 2013, str. 31-39)Type of material - article, component part ; adult, seriousPublish date - 2013Language - englishCOBISS.SI-ID - 4757823
Author
Stangler Herodež, Špela |
Zagradišnik, Boris |
Erjavec Škerget, Alenka, 1974- |
Zagorac, Andreja |
Takač, Iztok |
Vlaisavljević, Veljko |
Lokar, Lidija |
Kokalj-Vokač, Nadja
Topics
metilentetrahidrofolat reduktaza |
genski polimorfizem |
genotip |
haplotip |
neplodnost |
spontani splav |
zarodek
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source: BJMG : Balkan journal of medical genetics. - ISSN 1311-0160 (Vol. 16, [no.] 1, 2013, str. 31-39)
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DRS, in which the journal is indexed
Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Stangler Herodež, Špela | 20200 |
Zagradišnik, Boris | 18205 |
Erjavec Škerget, Alenka, 1974- | 20135 |
Zagorac, Andreja | 15747 |
Takač, Iztok | 01324 |
Vlaisavljević, Veljko | 08996 |
Lokar, Lidija | 92783 |
Kokalj-Vokač, Nadja | 13343 |
Source: Personal bibliographies
and: SICRIS
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