The gene for variegate porphyria (VP), an autosomal dominant disease with a high prevalance in So... more The gene for variegate porphyria (VP), an autosomal dominant disease with a high prevalance in South Africa, evidently due to a founder effect, was previously mapped to chromosome 14q32. In the current study this localization was evaluated by linkage and haplotype analyses using microsatellite markers spanning a region of more than 20 cM on chromosome 14q32. In many recent studies linkage disequilibrium between disease and marker loci has been utilized to map genes in founder populations, but we could not find any association between VP and the markers used in this study. Our data suggest that the allocation of VP to chromosome 14q32 may be incorrect.
... al. (2004). In contrast, molecular studies have demonstrated the improved discriminatory powe... more ... al. (2004). In contrast, molecular studies have demonstrated the improved discriminatory power and reliability of molecular markers, in particular SSR primers (Adam-Blondon et al., 2004; Merdinoglu et al., 2005). Two concerns ...
1. S Afr Med J. 2001 Dec;91(12):1006-7. A platform for genomics in South Africa. Hide W, Mizrahi ... more 1. S Afr Med J. 2001 Dec;91(12):1006-7. A platform for genomics in South Africa. Hide W, Mizrahi V, Venkatesh B, Brenner S, Simpson A, Blatch G, Soodyall H, Denby K, Wingfield M, Wingfield B, van Helden P, Ramesar R, Dorrington R, Kelso J, Oppon E, Goyvaerts E, Ramsay M, de Villiers E, van Heerden C, Allsopp B, Seoighe C. PMID: 11845589 [PubMed - indexed for MEDLINE]. Publication Types: Letter. MeSH Terms. Animals; Ecosystem; Genomics/organization & administration*; Genomics/trends; Humans; South Africa.
Variegate porphyria (VP) is due to a partial deficiency of protoporphyrinogen oxidase (PPOX), the... more Variegate porphyria (VP) is due to a partial deficiency of protoporphyrinogen oxidase (PPOX), the seventh enzyme in the haem biosynthetic pathway. Clinically, VP is characterized by photosensitivity and acute neurovisceral attacks that can manifest separately or together in affected individuals. The disease is inherited in an autosomal dominant fashion with incomplete penetrance and PPOX gene mutations associated with VP are usually unique to patients and their families. In South Africa, however, VP is highly prevalent as the result of a founder mutation, designated p.R59W. Previous genealogical and haplotype studies showed a link between South African and Dutch carriers of p.R59W and it was suggested that this mutation was introduced to South Africa by Dutch settlers at the end of the 17th century. To perform extended haplotype analysis in six South African and Dutch VP families with the p.R59W mutation. Haplotyping of 13 microsatellite markers flanking the PPOX gene on chromosome 1q22-23 and five informative single nucleotide polymorphisms within and around the gene. A core haplotype cosegregated in all families studied. Our data deliver further confirmation that the South African and Dutch VP families carrying mutation p.R59W shared a common ancestor.
On t.p. 'n' in (CA)n is superscript.Thesis (M. Sc.) -- University of Stellenbosch, 1996.O... more On t.p. 'n' in (CA)n is superscript.Thesis (M. Sc.) -- University of Stellenbosch, 1996.One copy microfiche.Full text to be digitised and attached to bibliographic record
Powdery and downy mildew have a large negative impact on grape production worldwide. Quantitative... more Powdery and downy mildew have a large negative impact on grape production worldwide. Quantitative trait loci (QTL) mapping projects have identified several loci for the genetic factors responsible for resistance to these pathogens. Several of these studies have focused on the cultivar ‘Regent’, which carries the resistance loci to downy mildew on chromosome 18 (Rpv3), as well powdery mildew on chromosome 15 (Ren3, Ren9). Several other minor resistance loci have also been identified on other chromosomes. Here we report on the re-sequencing of the ‘Regent’ and ‘Red Globe’ (susceptible) genomes using next generation sequencing. While the genome of ‘Regent’ has more SNP variants than ‘Red Globe’, the distribution of these variants across the two genomes is not the same, nor is it uniform. The variation per gene shows that some genes have higher SNP density than others and that the number of SNPs for a given gene is not always the same for the two cultivars. In this study, we investigate...
The gene for variegate porphyria (VP), an autosomal dominant disease with a high prevalance in So... more The gene for variegate porphyria (VP), an autosomal dominant disease with a high prevalance in South Africa, evidently due to a founder effect, was previously mapped to chromosome 14q32. In the current study this localization was evaluated by linkage and haplotype analyses using microsatellite markers spanning a region of more than 20 cM on chromosome 14q32. In many recent studies linkage disequilibrium between disease and marker loci has been utilized to map genes in founder populations, but we could not find any association between VP and the markers used in this study. Our data suggest that the allocation of VP to chromosome 14q32 may be incorrect.
... al. (2004). In contrast, molecular studies have demonstrated the improved discriminatory powe... more ... al. (2004). In contrast, molecular studies have demonstrated the improved discriminatory power and reliability of molecular markers, in particular SSR primers (Adam-Blondon et al., 2004; Merdinoglu et al., 2005). Two concerns ...
1. S Afr Med J. 2001 Dec;91(12):1006-7. A platform for genomics in South Africa. Hide W, Mizrahi ... more 1. S Afr Med J. 2001 Dec;91(12):1006-7. A platform for genomics in South Africa. Hide W, Mizrahi V, Venkatesh B, Brenner S, Simpson A, Blatch G, Soodyall H, Denby K, Wingfield M, Wingfield B, van Helden P, Ramesar R, Dorrington R, Kelso J, Oppon E, Goyvaerts E, Ramsay M, de Villiers E, van Heerden C, Allsopp B, Seoighe C. PMID: 11845589 [PubMed - indexed for MEDLINE]. Publication Types: Letter. MeSH Terms. Animals; Ecosystem; Genomics/organization & administration*; Genomics/trends; Humans; South Africa.
Variegate porphyria (VP) is due to a partial deficiency of protoporphyrinogen oxidase (PPOX), the... more Variegate porphyria (VP) is due to a partial deficiency of protoporphyrinogen oxidase (PPOX), the seventh enzyme in the haem biosynthetic pathway. Clinically, VP is characterized by photosensitivity and acute neurovisceral attacks that can manifest separately or together in affected individuals. The disease is inherited in an autosomal dominant fashion with incomplete penetrance and PPOX gene mutations associated with VP are usually unique to patients and their families. In South Africa, however, VP is highly prevalent as the result of a founder mutation, designated p.R59W. Previous genealogical and haplotype studies showed a link between South African and Dutch carriers of p.R59W and it was suggested that this mutation was introduced to South Africa by Dutch settlers at the end of the 17th century. To perform extended haplotype analysis in six South African and Dutch VP families with the p.R59W mutation. Haplotyping of 13 microsatellite markers flanking the PPOX gene on chromosome 1q22-23 and five informative single nucleotide polymorphisms within and around the gene. A core haplotype cosegregated in all families studied. Our data deliver further confirmation that the South African and Dutch VP families carrying mutation p.R59W shared a common ancestor.
On t.p. 'n' in (CA)n is superscript.Thesis (M. Sc.) -- University of Stellenbosch, 1996.O... more On t.p. 'n' in (CA)n is superscript.Thesis (M. Sc.) -- University of Stellenbosch, 1996.One copy microfiche.Full text to be digitised and attached to bibliographic record
Powdery and downy mildew have a large negative impact on grape production worldwide. Quantitative... more Powdery and downy mildew have a large negative impact on grape production worldwide. Quantitative trait loci (QTL) mapping projects have identified several loci for the genetic factors responsible for resistance to these pathogens. Several of these studies have focused on the cultivar ‘Regent’, which carries the resistance loci to downy mildew on chromosome 18 (Rpv3), as well powdery mildew on chromosome 15 (Ren3, Ren9). Several other minor resistance loci have also been identified on other chromosomes. Here we report on the re-sequencing of the ‘Regent’ and ‘Red Globe’ (susceptible) genomes using next generation sequencing. While the genome of ‘Regent’ has more SNP variants than ‘Red Globe’, the distribution of these variants across the two genomes is not the same, nor is it uniform. The variation per gene shows that some genes have higher SNP density than others and that the number of SNPs for a given gene is not always the same for the two cultivars. In this study, we investigate...
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