Analysis of two mutations in the MTHFR gene associated with mild hyperhomocysteinaemia - heterogeneous distribution in the South African population
Date
2002-06
Authors
Scholtz, Charlotte L.
Odendaal, Hein J.
Thiart, Rochelle
Loubser, Lynzie
Hillermann, Renate
Delport, Rhena
Hayward Vermaak, W. J.
Kotze, Maritha J.
Journal Title
Journal ISSN
Volume Title
Publisher
Health and Medical Publishing Group (HMPG)
Abstract
Objective. The frequencies of mutations 677C→T and
1298A→C in the methylenetetrahydrofolate reductase
(MTHFR) gene, previously shown to be associated with
decreased enzyme activity that may lead to
hyperhomocysteinaemia and consequently increased risk of
cardiovascular disease (CVD), were determined in the
South African population.
Methods. HinfI (677C→T) and MboII (1298A→C) restriction
enzyme analyses were performed on amplified DNA
samples of 76 white, 73 coloured and 60 black subjects.
Results. The mutant alleles of mutations 677C→T and
1298A→C were more common in the white (allele
frequencies 0.36 and 0.37, respectively) than in the black
population (0.04 and 0.09), while intermediate frequencies
were detected ill the coloured population (0.18 and 0.30).
Homozygosity for mutation 677C →T was not detected in
the black cohort, while this genotype was detected in 1
coloured (1.4%) and 8white (10.5%) subjects. In the black
population, 5% of the 60 subjects analysed were
homozygous for mutation 1298A → C, compared with
approximately 12% -in both the white and coloured
populations.
Description
The original publication is available at http://www.samj.org.za
Keywords
Hyperhomocysteinaemia, Cardiovascular disease (CVD) -- South Africa -- Cross-cultural studies, Cardiovascular disease -- Environmental aspects -- South Africa, Cardiovascular disease -- Genetic aspects -- South Africa, Polymorphisms
Citation
Scholtz, C. L. et al. 2002. Analysis of two mutations in the MTHFR gene associated with mild hyperhomocysteinaemia - heterogeneous distribution in the South African population. South African Medical Journal, 92(6):464-467.