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A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.
- Source :
-
Molecular biology reports [Mol Biol Rep] 2012 May; Vol. 39 (5), pp. 5181-6. Date of Electronic Publication: 2011 Dec 13. - Publication Year :
- 2012
-
Abstract
- The purpose of this investigation was to characterize a new mutation in the LDL-receptor (LDLR) gene in three families with clinically diagnosed familial hypercholesterolemia (FH) from the South-Eastern part of Poland. Mutational screening with exon by exon sequencing analysis was performed in all probands. The novel mutation c986G>T (Cys308Phe) in the exon 7 of LDLR gene was found in three apparently unrelated probands with FH. Analysis of the receptor activity of peripheral blood lymphocytes by binding and uptake of DiL-LDL showed a significant reduction (by 24% versus healthy control) of the fluorescent label in the lymphocytes of patients heterozygous for this mutation. Concentrations of serum LDL-C in probands before treatment were between 9.5 and 10.5 mmol/l. All patients had corneal arcus and tendon xanthoma. Clinically, families were characterized by premature coronary artery disease. This mutation occurred relatively frequently in our group of patients with FH, but this could be explained by a founder effect since we demonstrated their common ancestors.
- Subjects :
- Adult
Aged
Amino Acid Sequence
Base Sequence
Chromosome Segregation genetics
DNA Mutational Analysis
Endocytosis
Exons genetics
Family
Female
Heterozygote
Humans
Male
Middle Aged
Molecular Sequence Data
Pedigree
Poland
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length genetics
Protein Binding
Receptors, LDL chemistry
Mutation genetics
Polymorphism, Single Nucleotide genetics
Receptors, LDL genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1573-4978
- Volume :
- 39
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Molecular biology reports
- Publication Type :
- Academic Journal
- Accession number :
- 22160468
- Full Text :
- https://doi.org/10.1007/s11033-011-1314-0