Parra-Ortega I, Martínez-Arias M, López-Valladares K, Sánchez-Huerta JL, Barrera-Dávila L, Juárez-Barreto V, López-Martínez B

Language: Spanish
References: 32
Page: 115-120
PDF size: 415.21 Kb.

ABSTRACT

Background: Some studies describe the coexistence in heterozygous form of C677T and A1298C mutations in the gene encoding the MTHFR enzyme, that plays an important role in pathogenesis of some diseases such as predisposition to thrombosis.
Objective: To investigate the frequency of mutations in a group of Mexican mestizos.
Material and method: A descriptive cross-sectional study including 207 apparently healthy volunteers (blood disponentes), in which, by polymerase chain reaction in real time, it was researched C677T and A1298C mutations in the gene encoding the enzyme MTHFR for frequency included allelic variations and comparing the serum homocysteine.
Results: Of the 207 healthy individuals studied, we identified only 28 (13.5%) with a normal genotype and 179 (86.5%) with a mutated genotype; combinations identified were: 14 (7%) with 677 normal/1298 heterozygotes, 74 (36%) heterozygous 677/1298 normal, 67 (32%) mutated homozygous 677/1298 normal, 23 (11%) heterozygous 677/1298 heterozygous, one (0.5%) mutated homozygous 677/1298 heterozygotes. The differences between the means of homocysteine for all groups of mutations were considered significant, p ‹0.05.
Conclusions: The frequency of coexistence compound heterozygote state of polymorphisms C677T and A1298C 5,10 methylenetetrahydrofolate reductase in Mexican mestizos is not uncommon, as it was presented in 11% of those studied. The experience gained in this group of patients confirms the association of allelic variations in MTHFR and increased homocysteine.

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