Recurrent mutation at aa 792 in the LDL receptor gene in a French patient
| Autor: | Claudine Junien, Jean-Pierre Cambou, Pastier D, L. Monnier, Benlian P, Catherine Boileau, C. Percheron, N. Loux |
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| Rok vydání: | 1991 |
| Předmět: |
Silent mutation
Hypercholesterolemia Molecular Sequence Data Nonsense mutation Familial hypercholesterolemia Biology Polymerase Chain Reaction Genetics medicine Humans Genetics (clinical) Base Sequence Point mutation Haplotype Nucleic Acid Hybridization DNA medicine.disease Molecular biology Stop codon Receptors LDL Mutation LDL receptor Mutation (genetic algorithm) lipids (amino acids peptides and proteins) France Polymorphism Restriction Fragment Length |
| Zdroj: | Human Genetics. 87 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf00200923 |
| Popis: | Many mutations in the low density lipoprotein receptor gene (LDLR) have been characterized at the molecular level in individuals with familial hypercholesterolemia. Most of the mutations that have been reported are large deletions or insertions in the gene, it being much more difficult to identify point mutations. In this study, 139 unrelated French familial hypercholesterolemia subjects were screened for the presence of three different previously described LDLR point mutations, employing the polymerase chain reaction and allele-specific oligonucleotide hybridization. Only one subject carried a point mutation at amino acid position 792, which substituted a Trp codon for a Stop codon. The same mutation has previously been described in a subject originating from Saudi Arabia. Haplotype analysis of LDLR associated with each mutation was performed. The haplotypes were totally different, suggesting that this mutation has occurred more than once. |
| Databáze: | OpenAIRE |
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