Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin |
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| Authors: | David C. Rubinsztein Ishwarlal Jialal Eran Leitersdorf Gerhard A. Coetzee Deneys R. van der Westhuyzen |
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| Affiliation: | 1. Medical Research Council/University of Cape Town Research Unit for the Cell Biology of Atherosclerosis, Department of Medical Biochemistry, University of Cape Town Medical School, Observatory 7925, Cape Town South Africa;2. Department of Pathology and Center for Human Nutrition, University of Texas Southwestern Medical Center at Dallas, TX USA;3. Hadassah University Hospital, Jerusalem Israel |
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| 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 [glu119GAG) 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 amy of the South African Indian FH of hypercholesterolemic patients that were screened. |
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| Keywords: | LDL LDL receptor Familial hypercholesterolemia Mutation |
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