Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin.
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Rubinsztein DC, Jialal I, Leitersdorf E, Coetzee GA, van der Westhuyzen DR
Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin.
Biochim Biophys Acta. 1993 Aug 4;1182(1):75-82.
- PubMed ID
- 8347689 [ View in PubMed]
- Abstract
South Africans of Indian origin have a high frequency of Familial Hypercholesterolemia (FH). Fibroblasts from a South African Indian FH homozygote, D, expressed about 30% of the normal number of LDL receptors. These receptors showed defective LDL binding. Sequence and haplotype analysis revealed that D had two different mutant LDL receptor alleles: FH Durban-1 is a point mutation [asp69(GAT) to tyr(TAT)] in ligand-binding repeat 2 and FH Durban-2 is a point mutation [glu119(GAG) to lys(AAG)] in ligand-binding repeat three of the LDL receptor. Single-strand conformational polymorphism analysis, which was used in the initial detection of these mutations, was also employed for subsequent population screening assays. These mutations were not detected in any of the South African Indian FH or hypercholesterolemic patients that were screened.