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, Charlotte L.
dc.contributor.authorOdendaal, Hein J.
dc.contributor.authorThiart, Rochelle
dc.contributor.authorLoubser, Lynzie
dc.contributor.authorHillermann, Renate
dc.contributor.authorDelport, Rhena
dc.contributor.authorHayward Vermaak, W. J.
dc.contributor.authorKotze, Maritha J.
dc.date.accessioned2013-01-23T11:51:20Z
dc.date.available2013-01-23T11:51:20Z
dc.date.issued2002-06
dc.descriptionThe original publication is available at http://www.samj.org.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 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.en_ZA
dc.description.versionPublishers’ version
dc.format.extentpp. 464-467
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. South African Medical Journal, 92(6):464-467.en_ZA
dc.identifier.issn2078-5135 (online)
dc.identifier.issn0256-9574 (print)
dc.identifier.urihttp://hdl.handle.net/10019.1/74946
dc.language.isoen_ZAen_ZA
dc.publisherHealth and Medical Publishing Group (HMPG)en_ZA
dc.rights.holderAuthors retain copyright
dc.subjectHyperhomocysteinaemiaen_ZA
dc.subjectCardiovascular disease (CVD) -- South Africa -- Cross-cultural studiesen_ZA
dc.subjectCardiovascular disease -- Environmental aspects -- South Africaen_ZA
dc.subjectCardiovascular disease -- Genetic aspects -- South Africaen_ZA
dc.subjectPolymorphismsen_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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