A METILENTETRAHIDROFOLATREDUKTAZ-GEN 677C→T MUTACIOJANAK VIZSGALATA A MAGYAR POPULACIOBAN ES KAPCSOLATA A VELOCSO-ZARODASI RENDELLENESSEGEKKEL

Translated title of the contribution: Neural tube defect and 677C→T mutation of the methylenetetrahydrofolate reductase. Is there a correlation in the Hungarian population?

T. Marton, T. Tóth, B. Nagy, Z. Papp

Research output: Contribution to journalArticle

Abstract

Introduction - Neural tube defect is thought to be a multifactorial disease, influenced by genetic and environmental factors. Recently a mutation, named 677C→T mutation has been detected in the methylenetetrahydrofolate reductase gene which results in an elevated serum homocysteinic acid concentration in affected persons. The first observations suggested correlation between the mutation and the neural tube defect. Several studies have been published since then with different results. Patients and Methods - 61 women bearing neural tube defect affected fetuses, and 41 fetuses with spina bifida or anencephaly were examined. In order to define the frequency of mutation in the control population, 210 healthy persons were also examined. 677C→T mutation has been detected after HINF I digestion, with PCR amplification, using the method of Frosst. Data has been analysed with Fisher's exact test. Results - In respect to 677C→T mutation among controls 32 homozygotic (+/+) and 89 heterozygotic, in the group of mothers 10 homozygotic, and 26 heterozygotic bearing neural tube defect affected fetuses, and among the fetuses 7 homozygotic with 21 heterozygotic were diagnosed. Results are not significant. Conclusion - Our observation does not show an elevated mutation frequency in neural tube defect fetuses or in their mothers versus the Hungarian population.

Original languageHungarian
Pages (from-to)104-107
Number of pages4
JournalLege Artis Medicinae
Volume8
Issue number2
Publication statusPublished - 1998

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Methylenetetrahydrofolate Reductase (NADPH2)
Neural Tube Defects
Fetus
Mutation
Population
Mutation Rate
Mothers
Inborn Genetic Diseases
Digestion
Observation
Polymerase Chain Reaction
Acids
Serum
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

@article{76675f326f864386af902abd50f89a98,
title = "A METILENTETRAHIDROFOLATREDUKTAZ-GEN 677C→T MUTACIOJANAK VIZSGALATA A MAGYAR POPULACIOBAN ES KAPCSOLATA A VELOCSO-ZARODASI RENDELLENESSEGEKKEL",
abstract = "Introduction - Neural tube defect is thought to be a multifactorial disease, influenced by genetic and environmental factors. Recently a mutation, named 677C→T mutation has been detected in the methylenetetrahydrofolate reductase gene which results in an elevated serum homocysteinic acid concentration in affected persons. The first observations suggested correlation between the mutation and the neural tube defect. Several studies have been published since then with different results. Patients and Methods - 61 women bearing neural tube defect affected fetuses, and 41 fetuses with spina bifida or anencephaly were examined. In order to define the frequency of mutation in the control population, 210 healthy persons were also examined. 677C→T mutation has been detected after HINF I digestion, with PCR amplification, using the method of Frosst. Data has been analysed with Fisher's exact test. Results - In respect to 677C→T mutation among controls 32 homozygotic (+/+) and 89 heterozygotic, in the group of mothers 10 homozygotic, and 26 heterozygotic bearing neural tube defect affected fetuses, and among the fetuses 7 homozygotic with 21 heterozygotic were diagnosed. Results are not significant. Conclusion - Our observation does not show an elevated mutation frequency in neural tube defect fetuses or in their mothers versus the Hungarian population.",
keywords = "Methylenetetrahydrofolate reductase, Neural tube defect, PCR",
author = "T. Marton and T. T{\'o}th and B. Nagy and Z. Papp",
year = "1998",
language = "Hungarian",
volume = "8",
pages = "104--107",
journal = "Lege Artis Medicinae",
issn = "0866-4811",
publisher = "Literatura Medica Publishing House",
number = "2",

}

TY - JOUR

T1 - A METILENTETRAHIDROFOLATREDUKTAZ-GEN 677C→T MUTACIOJANAK VIZSGALATA A MAGYAR POPULACIOBAN ES KAPCSOLATA A VELOCSO-ZARODASI RENDELLENESSEGEKKEL

AU - Marton, T.

AU - Tóth, T.

AU - Nagy, B.

AU - Papp, Z.

PY - 1998

Y1 - 1998

N2 - Introduction - Neural tube defect is thought to be a multifactorial disease, influenced by genetic and environmental factors. Recently a mutation, named 677C→T mutation has been detected in the methylenetetrahydrofolate reductase gene which results in an elevated serum homocysteinic acid concentration in affected persons. The first observations suggested correlation between the mutation and the neural tube defect. Several studies have been published since then with different results. Patients and Methods - 61 women bearing neural tube defect affected fetuses, and 41 fetuses with spina bifida or anencephaly were examined. In order to define the frequency of mutation in the control population, 210 healthy persons were also examined. 677C→T mutation has been detected after HINF I digestion, with PCR amplification, using the method of Frosst. Data has been analysed with Fisher's exact test. Results - In respect to 677C→T mutation among controls 32 homozygotic (+/+) and 89 heterozygotic, in the group of mothers 10 homozygotic, and 26 heterozygotic bearing neural tube defect affected fetuses, and among the fetuses 7 homozygotic with 21 heterozygotic were diagnosed. Results are not significant. Conclusion - Our observation does not show an elevated mutation frequency in neural tube defect fetuses or in their mothers versus the Hungarian population.

AB - Introduction - Neural tube defect is thought to be a multifactorial disease, influenced by genetic and environmental factors. Recently a mutation, named 677C→T mutation has been detected in the methylenetetrahydrofolate reductase gene which results in an elevated serum homocysteinic acid concentration in affected persons. The first observations suggested correlation between the mutation and the neural tube defect. Several studies have been published since then with different results. Patients and Methods - 61 women bearing neural tube defect affected fetuses, and 41 fetuses with spina bifida or anencephaly were examined. In order to define the frequency of mutation in the control population, 210 healthy persons were also examined. 677C→T mutation has been detected after HINF I digestion, with PCR amplification, using the method of Frosst. Data has been analysed with Fisher's exact test. Results - In respect to 677C→T mutation among controls 32 homozygotic (+/+) and 89 heterozygotic, in the group of mothers 10 homozygotic, and 26 heterozygotic bearing neural tube defect affected fetuses, and among the fetuses 7 homozygotic with 21 heterozygotic were diagnosed. Results are not significant. Conclusion - Our observation does not show an elevated mutation frequency in neural tube defect fetuses or in their mothers versus the Hungarian population.

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