title: [The C677T polymorphism in the methylene tetrahydrofolate reductase gene among Tunisian population].
abstract: The 5,10 methylene tetrahydrofolate reductase (MTHFR) is an enzyme that catalyzes the irreversible reduction of 5,10 methylene tetrahydrofolate into 5 methyl tetrahydrofolate. It is coded by a gene where several polymorphisms have been identified. The most common is the C677T polymorphism described as presenting an heterogeneous worldwide distribution and associated with different disorders such as cardiovascular and cancerous diseases. The aim of this work was to determine the allelic and genotypic frequencies of the C677T polymorphism among a Tunisian healthy population. The study concerned 185 subjects apparently healthy. It was carried out by the PCR/RFLP method, using the restriction enzyme Hinf I. The results has showed an allelic frequency of 17.8% with a genotype frequency of 5.4%. These values are intermediate between those observed in Africa and those observed in Western countries. They must be considered in the evaluation of the clinic significance of a predisposition to diseases.
authors.affiliation: Service de biologie clinique, Institut Salah Azaeiz, Bab Saadoun, Tunis, Tunisie.
authors.forename: Z
authors.initials: Z
authors.lastname: Jerbi
authors.forename: M
authors.initials: M
authors.lastname: Abdennebi
authors.forename: H
authors.initials: H
authors.lastname: Douik
authors.forename: H
authors.initials: H
authors.lastname: Ben Romdhane
authors.forename: L
authors.initials: L
authors.lastname: Harzallah
authors.forename: F
authors.initials: F
authors.lastname: Guemira
authors.forename: A
authors.initials: A
authors.lastname: Ghanem
mesh_terms: D000328:Adult; D000368:Aged; D003596:Cytosine; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012016:Reference Values; D015183:Restriction Mapping; D013941:Thymine; D014416:Tunisia
chemical_list: D003596:Cytosine; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013941:Thymine