Špela Stangler Herodež (Avtor), Boris Zagradišnik (Avtor), Alenka Erjavec Škerget (Avtor), Andreja Zagorac (Avtor), Iztok Takač (Avtor), Veljko Vlaisavljević (Avtor), Lidija Lokar (Avtor), Nadja Kokalj-Vokač (Avtor)

Povzetek

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.

Ključne besede

metilentetrahidrofolat reduktaza;genski polimorfizem;genotip;haplotip;neplodnost;spontani splav;zarodek;

Podatki

Jezik: Angleški jezik
Leto izida:
Tipologija: 1.01 - Izvirni znanstveni članek
Organizacija: UM - Univerza v Mariboru
UDK: 618.39-021.3
COBISS: 4757823 Povezava se bo odprla v novem oknu
ISSN: 1311-0160
Št. ogledov: 957
Št. prenosov: 268
Ocena: 0 (0 glasov)
Metapodatki: JSON JSON-RDF JSON-LD TURTLE N-TRIPLES XML RDFA MICRODATA DC-XML DC-RDF RDF

Ostali podatki

Sekundarni jezik: Slovenski jezik
Sekundarne ključne besede: metilentetrahidrofolat reduktaza;genski polimorfizem;genotip;haplotip;neplodnost;spontani splav;zarodek;
URN: URN:SI:UM:
Vrsta dela (COBISS): Znanstveno delo
Strani: str. 31-39
Letnik: ǂVol. ǂ16
Zvezek: ǂ[no.] ǂ1
Čas izdaje: 2013
ID: 9595678