Article
Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)).
Clinical genetics - 1 Feb 2000
Bertolini S, Simone M L, Pes G M, Ghisellini M, Rolleri M, Bellocchio A, Elicio N, Masturzo P, Calandra S
Abstract excerpt
We analyzed the molecular defect in the lipoprotein lipase (LPL) gene of a young boy from Sardinia who had primary hyperchylomicronemia, pancreatitis, and a complete LPL deficiency in post-heparin plasma. Analysis of LPL gene was performed by using single strand conformation polymorphism (SSCP) and direct sequencing of SSCP-positive region. The proband was homozygous for a C > A transversion in exon 6, which...
Topics
- Apolipoproteins E
- Child
- DNA Mutational Analysis
- Exons
- Female
- Genes, Dominant
- Genotype
- Humans
- Italy
- Lipids
- Lipoprotein Lipase
- Male
- Mutation
- Pedigree