A metiléntetrahidrofolát-reduktáz (MTHFR) C677T mutáció kimutatása kvantitatív valós ideju PCR módszer alkalmazásával HELLP szindrómás betegek mintáiban

Nagy Bálint, Hupuczi Petronella, Szabó Gábor, Rigó Barbara, Papp Zoltán

Research output: Article

Abstract

The frequency of methylenetetrahydrofolate reductase C677T polymorphism has not been studied in patients with HELLP syndrome. We decided to determine it in Hungarian severe preeclamptic and HELLP syndrome patients. We determined the distribution of the MTHFR C677T mutation in DNA samples of 73 healthy pregnant, 101 severe preeclamptic and 63 HELLP syndrome effected women using the quantitative real-time PCR method. We found a significantly higher number of TT genotype (25.4%) in the HELLP syndrome group as compared to the healthy (8.2%) and also in the severe preeclamptics (8.9%)(p=0.03). However, we found almost the same genotype distribution in the healthy pregnant and preeclamptic groups. The distribution of the C and T alleles showed the same phenomenon. The frequency of the mutant T allele was 45.2% in HELLP syndrome, while it was 32.2% in the healthy pregnant (p=0.03), and 30.2% (p=0.008) in the severe preeclamptic patients. We detected a higher frequency of MTHFR C677T mutation in HELLP syndrome patients, using the quantitative real-time PCR method. It can explain the premature vascular disease and venous thrombosis observed in these patients. Determination of MTHFR genotype and the measurement of homocystein levels could be a helpful information in the management of patients having preeclampsia and HELLP syndrome.

Translated title of the contributionDetection of methylenetetrahydrofolate reductase (MTHFR) C677T mutation by quantitative real-time PCR method in patients with HELLP syndrome
Original languageHungarian
Pages (from-to)171-175
Number of pages5
JournalMagyar Noorvosok Lapja
Volume70
Issue number3
Publication statusPublished - jún. 14 2007

Keywords

  • Allele frequency
  • HELLP syndrome
  • Methylenetetrahydrofolate reductase
  • Mutation
  • Preeclampsia

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynaecology

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