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Study of a1298c MTHFR Gene polymorphism as a Risk Factor for Neural Tube Defects in the Eastern Algerian Population

Open Journal of Genetics 2021年第3期11卷 32-41页

作者： Amel Abbas Karima Sifi Karima Benembarek Nourredine Abadi Medicine faculty Ouargla University Ouargla Algeria Laboratory of Biology and Molecular Genetics CHU Benbadis Constantine Algeria Laboratory of Biochemistry CHU Benbadis Constantine Algeria

Background: As c677T mutation, a1298c mutation in methylene tetrahydrofolate reductase (MTHFR) gene results in a decreased MTHFR activity but to a less extent, it is known as a risk factor of predisposition to human n... 详细信息

Background: As C677T mutation, A1298C mutation in methylene tetrahydrofolate reductase (MTHFR) gene results in a decreased MTHFR activity but to a less extent, it is known as a risk factor of predisposition to human neural tube defects (NTDs), in some populations. Our objective was therefore to study, for the first time in Algerian population, if A1298C polymorphism confers risk for the occurrence of this abnormality. We have examined the distribution of the genotype and the allele frequencies of A1298C mutation, and also their influence on plasma homocysteine (Hcy) concentration. Patients and Methods: We studied this polymorphism in 38 mothers of NTD cases and 67 control individuals of an eastern Algerian population. The mutation was determined by polymerase chain reaction-restriction fragment length polymorphism analysis (PCR/RFLP). Plasma homocysteine concentration was analyzed using an automated chemiluminescence method. Results: No signi?cant association could be observed between allele and genotypes frequencies of A1298C MTHFR gene polymorphism and NTDs risk. However, we could observe that A1298C polymorphism affects homocysteine metabolism in mothers of NTD cases leading to homocysteine concentration values higher in AA genotype and lower in AC/CC genotypes (15.29 ± 11.8 μmol/l vs. 8.63 ±

关键词： Methylenetetrahydrofolate Reductase a1298c polymorphism Homocyste-ine Neural Tube Defects

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