Identification of deletions in the human low density lipoprotein receptor gene.
Open Access
- 1 March 1987
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 24 (3) , 144-147
- https://doi.org/10.1136/jmg.24.3.144
Abstract
DNA samples from 70 unrelated UK patients with heterozygous familial hypercholesterolaemia were screened by Southern blot hybridisation with a 5' fragment of the human low density lipoprotein (LDL) receptor cDNA. In the majority of cases, the restriction fragment pattern of the LDL receptor gene was indistinguishable from that observed in normal subjects. However, three patients were found to have a deletion of approximately 1 kb in the central portion of the gene. Mapping experiments indicated that in two patients a similar deletion has occurred that includes all or part of exon 5, and in the third patient a deletion has occurred that includes exon 7. Taking into account our previously described patient with a deletion in the 3' part of the gene, this means that in four out of 70 UK patients with familial hypercholesterolaemia (6%), the defect is caused by a detectable deletion of part of the coding portion of the low density lipoprotein receptor gene.Keywords
This publication has 13 references indexed in Scilit:
- Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia.Proceedings of the National Academy of Sciences, 1986
- Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemiaHuman Genetics, 1985
- Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domainCell, 1985
- The LDL Receptor Gene: A Mosaic of Exons Shared with Different ProteinsScience, 1985
- The human LDL receptor: A cysteine-rich protein with multiple Alu sequences in its mRNACell, 1984
- The use of polymorphic DNA and protein markers for the third complement component for determining linkage of familial hypercholesterolaemiaAtherosclerosis, 1984
- A technique for radiolabeling DNA restriction endonuclease fragments to high specific activityAnalytical Biochemistry, 1984
- Expression of the Familial Hypercholesterolemia Gene in Heterozygotes: Mechanism for a Dominant Disorder in ManScience, 1974
- Familial hypercholesterolemia: Defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme a reductase activityProceedings of the National Academy of Sciences, 1974
- Hyperlipidemia in Coronary Heart Disease II. GENETIC ANALYSIS OF LIPID LEVELS IN 176 FAMILIES AND DELINEATION OF A NEW INHERITED DISORDER, COMBINED HYPERLIPIDEMIAJournal of Clinical Investigation, 1973