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Abbas A.,Laboratoire Of Biologie Et Genetique Moleculaire | Abbas A.,University of Mentouri Constantine | Abadi N.,Laboratoire Of Biologie Et Genetique Moleculaire | Abadi N.,Laboratoire Of Biochimie | And 6 more authors.
Immuno-Analyse et Biologie Specialisee | Year: 2012

The common single nucleotide polymorphism (SNP) C677. T in the MTHFR gene is the first genetic risk factor of neural tube defects (NTD). It has been shown to be present, in increased frequency, in some studies in patients having neural tube defects and their mothers. This study objective is to research the C677. T mutation in mothers of children having NTDs in Constantine population, and to evaluate its impact on folate and homocysteine concentrations. The study included 27 mothers of NTD patients and a control group of 46 mothers. The mutation was determined by polymerase chain reaction - restriction fragment length polymorphism analysis. Plasma homocysteine, serum folate and erythrocyte folate concentrations were analyzed using an automated chemiluminescence method. Results have shown that C677. T genotype frequencies in NTD mothers were not significantly different from those of controls. However, they showed that plasma Hcy levels were significantly higher in mothers of children with NTDs compared to controls; 13,75 ± 10,7 μmol/l in mothers versus 7,67 ± 3,83. μmol/l in controls (p < 0,01). This elevation was associated, principally, to the mutation. Through their effect on homocysteine, MTHFR mutation can be implicated as a risk factor for NTDs in our population. © 2012 Elsevier Masson SAS.

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