Analysis of two mutations in the MTHFR gene associated with mild hyperhomocysteinaemia - heterogeneous distribution in the South African population

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dc.contributor.authorScholtz, C. L.en_ZA
dc.contributor.authorOdendaal, H. J.en_ZA
dc.contributor.authorThiart, R.en_ZA
dc.contributor.authorLoubser, L.en_ZA
dc.contributor.authorHillermann, R.en_ZA
dc.contributor.authorDelport, R.en_ZA
dc.contributor.authorHayward Vermaak, W. J.en_ZA
dc.contributor.authorKotze, M. J.en_ZA
dc.date.accessioned2011-03-18T14:57:03Z
dc.date.available2011-03-18T14:57:03Z
dc.date.issued2002-6
dc.descriptionCITATION: 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. S Afr Med J, 92(10):464-467.en_ZA
dc.descriptionThe original publication is available at http://www.samj.org.zaen_ZA
dc.description.abstractObjective. 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 in 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 8 white (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. Conclusions. Since hyperhomocysteinaemia is a risk factor for premature CVD, the heterogeneous distribution of the 677C→T and 1298A→C mutations across ethnic groups may partly explain ethnic differences in heart disease risk through decreased enzyme activity and hence increased homocysteine levels.en_ZA
dc.description.versionPublisher’s version
dc.format.extent4 pagesen_ZA
dc.identifier.citationScholtz, C.L. et al. 2002. Analysis of two mutations in the MTHFR gene associated with mild hyperhomocysteinaemia - heterogeneous distribution in the South African population. S Afr Med J, 92(10):464-467.en_ZA
dc.identifier.issn2078-5135 (online)
dc.identifier.issn0256-9574 (print)
dc.identifier.urihttp://hdl.handle.net/10019.1/7160
dc.language.isoenen_ZA
dc.publisherHealth & Medical Publishing Groupen_ZA
dc.rights.holderSouth African Medical Journalen_ZA
dc.subjectGenetic heterogeneityen_ZA
dc.subjectMethylenetetrahydrofolate reductaseen_ZA
dc.subjectHyperhomocysteinaemiaen_ZA
dc.subjectHomocysteineen_ZA
dc.subjectMTHFR gene -- South Africaen_ZA
dc.subjectCardiovascular system -- Diseasesen_ZA
dc.subjectGenetics, Populationen_ZA
dc.titleAnalysis of two mutations in the MTHFR gene associated with mild hyperhomocysteinaemia - heterogeneous distribution in the South African populationen_ZA
dc.typeArticleen_ZA
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