Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene
| Autor: | Armand V. Peeters, Rochelle Thiart, Maritha J. Kotze, María Rita Santos, J. N. P. De Villiers, Marco A. Vargas, Odell Loubser |
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| Rok vydání: | 1996 |
| Předmět: |
Male
DNA Mutational Analysis Molecular Sequence Data Gene mutation Biology Polymerase Chain Reaction Frameshift mutation Hyperlipoproteinemia Type II Exon Mutant protein Gene duplication Genetics Humans Amino Acid Sequence Insertion Codon Frameshift Mutation Triglycerides Genetics (clinical) DNA Primers Terminator Regions Genetic Base Sequence Epidermal Growth Factor Cholesterol HDL nutritional and metabolic diseases Exons Middle Aged Molecular biology Stop codon Cholesterol Receptors LDL LDL receptor DNA Transposable Elements Female lipids (amino acids peptides and proteins) |
| Zdroj: | Human Genetics. 98:476-478 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/s004390050242 |
| Popis: | Mutation analysis of the low density lipoprotein receptor (LDLR) gene revealed a novel 8-bp duplication after nucleotide 681 in a Costa Rican patient with familial hypercholesterolaemia. The frameshift caused by this mutation results in a premature termination codon in the EGF precursor homology domain of the mature LDLR, whereby a truncated protein of the first 206 residues with an additional 39 abnormal residues would be created. The insertion overlaps with previously described duplications of 18 bp and 21 bp, thus revealing an insertional hotspot in exon 4 of the LDLR gene. We propose that the structural features of this region of the LDLR gene contribute significantly to genetic instability and the subsequent DNA duplication via an endogenous sequence-directed mechanism of mutagenesis. |
| Databáze: | OpenAIRE |
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