Recurrent LDL-receptor mutation causes familial hypercholesterolaemia in South African coloureds and Afrikaners

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Growth and weight status in treatment-naïve 12-16 year old adolescents with Alcohol Use Disorders in Cape Town, South Africa

The original publication is available at http://www.nutritionj.com/Publication of this article was funded by the Stellenbosch University Open Access Fund.Abstract: Background Heavy alcohol consumption during adolescence has many known harmful health and social consequences and is strongly associated with numerous health risk behaviours. The consequences of heavy alcohol use during adolescence on nutritional status, specifically growth and weight status are largely unknown at this time. Methods Substance use, anthropometric indices of growth and weight, dietary energy intake and physical activity in heavy drinking adolescents (meeting DSM-IV criteria for alcohol use disorders) and matched light/non-drinking control adolescents were assessed. Results Lifetime alcohol dose, measured in standard drinks of alcohol, was orders of magnitude higher in adolescents with alcohol use disorders (AUDs) compared to controls. The AUDs group was selected to represent relatively 'pure' AUDs, with minimal other drug use and no psychiatric diagnoses. The growth and weight status of adolescents with AUDs were generally comparable to that of controls, and is in line with the growth and weight status of the South African adolescent population. A greater proportion of overweight/obese females was found in both groups, with this percentage tending to be greater, although not significantly so, in the AUDs group. Adolescent females with AUDs had increased odds of being overweight/obese compared to controls, after adjustment for smoking, physical activity and energy intake. Conclusion Anthropometric indices of growth and weight status of participants in the Control and AUD groups were generally comparable. Female adolescents with AUDs may have an increased risk of being overweight/obese compared to adolescent females without AUDs. The presence of an AUD in our adolescent sample was associated with higher energy intake. Longitudinal studies are needed to elucidate the effects of heavy alcohol use on energy balance, growth and weight status in adolescents as they age. Nonetheless, the current study contributes to our understanding of the impacts of heavy alcohol consumption on important aspects of adolescent development.Publishers' versio

Die molekulere karakterisering van genomiese DNS fragmente van die LDL-reseptor geenlokus

Proefskrif (M.Sc. in Geneesk. Wet.) -- Universiteit van Stellenbosch, 1989.Een kopie mikrofiche.Full text to be digitised and attached to bibliographic record

Die molekulere karakterisering van genomiese DNS fragmente van die LDL-reseptor geenlokus

Proefskrif (M.Sc. in Geneesk. Wet.) -- Universiteit van Stellenbosch, 1989.Een kopie mikrofiche.Full text to be digitised and attached to bibliographic record

Failure to thrive and its relationship to serum vitamin A levels and diet

CITATION: Donald, P. R. et al. 1995. Failure to thrive and its relationship to serum vitamin A levels and diet. South African Medical Journal, 85:373-377.The original publication is available at http://www.samj.org.zaSerum vitamin A and retinol-binding protein (REP) levels were determined in a group of 34 children between 1 and 4 years of age with failure to thrive and in 34 age- and sex-matched controls. Both groups of children were also assessed in respect of anthropometry and diet. Vitamin A levels in patients (0-32,2 μg/100 ml; median 16,9 μg/100 ml) did not differ significantly from controls (6,4-47,2 μg/100 ml; median 16,1 μg/100 ml). Fourteen patients (42%) and 4 controls (12%) had vitamin A levels below 10 μg/100 ml. RBP levels in patients (0.45-3,50 mg/100 ml; median 2,17 mg/100 ml) also did not differ significantly from those in controls (1,21-3,66 mg/100 ml; median 2.06 mg/100 ml). No clinical features of vitamin A deficiency were detected. Weight and height for age, weight for height, mid-upper arm circumference and head circumference differed significantly between patients and controls (P < 0.0001 in each instance). Although within the recommendations for intake, patients had a significantly lower intake of the essential fatty acid C 18:2 (N=6) (linoleic acid) and vitamin A. In view of the current proposed relationship between vitamin A status and infectious diseases, the prevalence of biochemical vitamin A deficiency in children in the Cape Town community studied may contribute to the morbidity and mortality associated with infectious diseases in the area to a greater degree than has been suspected.Publisher’s versio

Recurrent LDL-receptor mutation causes familial hypercholesterolaemia in South African coloureds and Afrikaners

CITATION: Kotze, M. J. et al. 1995. Recurrent LDL-receptor mutation causes familial hypercholesterolaemia in South African coloureds and Afrikaners. South African Medical Journal, 85(5):357-361.The original publication is available at http://www.samj.org.zaThree low-density lipoprotein receptor (LDLR) gene mutations were previously shown to cause familial hypercholesterolaemia (FH) in up to 90% of affected Afrikaners. Association of each mutation with a single chromosomal background provided molecular genetic evidence that the proposed 'founder gene effect' was responsible for the high prevalence of FH among white Afrikaners. In this study we report the identification of the FH Afrikaner-2 (FH2) mutation, Val408 to Met, in the so-called coloured population of South Africa, a people of mixed ancestry, with rapid non-radioactive methods for mutation detection. Haplotype analysis with polymorphisms on both sides of the FH2 mutation indicated that the identical LDLR gene mutations found in two different South African population groups were caused by independent events at a potential CpG mutational 'hot spot'. The allelic variation giving rise to the different chromosomal backgrounds of the FH2 mutation does not affect the properties of the abnormal LDLR protein product which causes FH in these subjects. This mutation is thus expected to cause the same severe form of FH in affected coloureds as was previously demonstrated in Afrikaners. Detection of mutant LDLR gene alleles in polymerase chain reaction products, directly after gel electrophoresis, now allows accurate presymptomatic diagnosis of the FH2 mutation in FH patients from two different South African population groups.Publisher’s versio

Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene

DNA sequencing of enzymatically-amplified exons of the low-density lipoprotein receptor gene from several individuals revealed a polymorphism in exon 10 of the gene. The codon for arginine 450 was converted from AGG to AGA in some alleles.Articl