Mutation Analysis of Exon 3 of the LDL Receptor Gene in Patients with Severe Hypercholesterolemia
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Jürgen Geisel
Abstract
Single-strand conformation polymorphism analysis was used to screen for mutations in exon 3 of the low density lipoprotein receptor gene in a group of 218 unrelated patients with severe hypercholesterolemia (low density lipoprotein cholesterol > 6.7 mmol/l) living in the Cologne area of Germany. Including the complementary primers the fragment studied had a length of 176 bp. An abnormal single-strand conformation polymorphism pattern was observed in eight patients, four of whom had an identical abnormal fragment pattern indicating that five different mutations were present. By direct DNA sequencing, the underlying mutations could be confirmed (Cys54→Tyr, Trp66→Gly, Glu80→Lys, 2 bp insertion (AT between codon 44 and 45, 9 bp deletion (codons 65 to 67)). The analysis of the pathogenicity indicates that all mutations were causative for the low density lipoprotein cholesterol elevation. The Trp66→Gly and Glu80→Lys mutations were previously described in a French-Canadian population and in an English population, respectively. The 2 bp insertion was detected in four unrelated patients and is one of the most frequent mutations detected up to now in the German population.
Copyright © 1999 by Walter de Gruyter GmbH & Co. KG
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Articles in the same Issue
- Developments in Quantitative PCR
- Endemic Nephropathy in Croatia
- Mutation Analysis of Exon 3 of the LDL Receptor Gene in Patients with Severe Hypercholesterolemia
- Recombinant Human Heart-Type Fatty Acid-Binding Protein as Standard in Immunochemical Assays
- Sialic Acid, Transketolase and Na+, K+, ATPase in Patients with Rheumatoid Arthritis
- Quantitation and Enzymatic Activity of the Alkaline Protease from Pseudomonas aeruginosa in Culture Supernatants from Clinical Strains
- Preparation of a Candidate Primary Reference Material for the International Standardisation of HbA1c Determinations
- Urinary α1-Microglobulin Detects Uropathy. A Prospective Study in 483 Urological Patients
- Long-Term Variability of Serum Lipoprotein(a) Concentrations in Healthy Fertile Women
- Short-Term Variability in the Concentration of Serum Interleukin-6 and Its Soluble Receptor in Subjectively Healthy Persons
- Pediatric Reference Intervals for 34 Biochemical Analytes in Urban School Children and Adolescents
