A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia

Abstract

We performed denaturing gradient gel electrophor-esis (DGGE) of exons 4, 5, 6 and their exon-intron boundaries of the LPL-gene in 169 unrelated male patients suffering from familial combined hyperlipide-mia (FCH). Twenty patients were found to carry a nucleotide substitution in exon 6. Sequence and PCR/ digestion analysis revealed one common mutation (Asn291Ser) in all these cases. This mutation was also present in 215 male controls, albeit at a lower frequency than in FCH patients (10/215 = 4. 6% vs. 20/ 169 = 11. 8% p 2. Our study of male FCH patients revealed the presence of a common mutation in the LPL-gene that is associated with lipoprotein abnormalities, indicating that defective LPL is at least one of the factors contributing to the FCH-phenotype.