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Naslov:MTHFR C677T and A1298C genotypes and haplotypes in Slovenian couples with unexplained infertility problems and in embryonic tissues from spontaneous abortions
Avtorji:Stangler Herodež, Špela (Avtor)
Zagradišnik, Boris (Avtor)
Erjavec Škerget, Alenka (Avtor)
Zagorac, Andreja (Avtor)
Takač, Iztok (Avtor)
Vlaisavljević, Veljko (Avtor)
Lokar, Lidija (Avtor)
Kokalj-Vokač, Nadja (Avtor)
Datoteke:.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
 
Jezik:Angleški jezik
Vrsta gradiva:Znanstveno delo (r2)
Tipologija:1.01 - Izvirni znanstveni članek
Organizacija:MF - Medicinska fakulteta
Opis: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.
Ključne besede:methylenetetrahydrofolate reductase (MTHFR), genotype, haplotype, infertility, miscarriage
Leto izida:2013
Št. strani:str. 31-39
Številčenje:št. 1, Letn. 16
ISSN:1311-0160
UDK:618.39-021.3
COBISS_ID:4757823 Povezava se odpre v novem oknu
ISSN pri članku:1311-0160
NUK URN:URN:SI:UM:DK:KRBXHYTS
Licenca:CC BY-NC-ND 4.0
To delo je dosegljivo pod licenco Creative Commons Priznanje avtorstva-Nekomercialno-Brez predelav 4.0 Mednarodna
Število ogledov:366
Število prenosov:125
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Gradivo je del revije

Naslov:Balkan Journal of Medical Genetics
Skrajšan naslov:Balk. J. Med. Genet.
Založnik:De Gruyter Open
ISSN:1311-0160
COBISS.SI-ID:21017133 Novo okno

Sekundarni jezik

Jezik:Slovenski jezik
Ključne besede:metilentetrahidrofolat reduktaza, genski polimorfizem, genotip, haplotip, neplodnost, spontani splav, zarodek


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