A novel mutation in Exon 4 of the low density lipoprotein receptor gene resulting in heterozygous familial hypercholesterolemia associated with decreased ligand binding
| Autor: | Meng Hee Tan, Bassam A Nassar, Catherine K.L. Too, Duane L. Guernsey, Barbara Morash |
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| Rok vydání: | 1998 |
| Předmět: |
Adult
Male Heterozygote Restriction Mapping Familial hypercholesterolemia Biology Ligands Hyperlipoproteinemia Type II Exon chemistry.chemical_compound medicine Humans Codon Gene Aged Genetics DNA Exons Sequence Analysis DNA Middle Aged medicine.disease Pedigree Lipoproteins LDL Restriction enzyme Receptors LDL chemistry Low-density lipoprotein Mutation Mutation (genetic algorithm) LDL receptor Female Cardiology and Cardiovascular Medicine Cytosine |
| Zdroj: | Atherosclerosis. 136:9-16 |
| ISSN: | 0021-9150 |
| DOI: | 10.1016/s0021-9150(97)00174-3 |
| Popis: | Familial hypercholesterolemia (FH) is an autosomal dominant disorder caused by mutations in the low density lipoprotein (LDL) receptor gene. Currently, diagnosis of heterozygous FH relies on clinical phenotype; however, the use of clinical criteria for the diagnosis of heterozygous FH does not always permit unequivocable diagnosis of the disease. Molecular diagnosis of FH is clinically valuable especially in regions where founder mutations exist or where polygenic hypercholesterolemia is prevalent. In this paper we report the identification of a novel mutation, a cytosine to guanine substitution, at codon 152 in exon 4 of the LDL receptor gene in a Nova Scotian family clinically diagnosed with heterozygous FH. The mutation creates a recognition sequence for the restriction endonuclease BsrI, and can be readily detected by BsrI restriction analysis of a 160 bp amplicon spanning the mutation. This analysis was used to show that the mutation segregated with the disease in this family and is the probable cause of FH in this kindred. |
| Databáze: | OpenAIRE |
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