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

摘要: We performed denaturing gradient gel electrophoresis (DGGE) of exons 4, 5, 6 and their exon-intron boundaries the LPL-gene in 169 unrelated male patients suffering from familial combined hyperlipidemia (FCH). Twenty were found to carry a nucleotide substitution exon 6. Sequence PCR/digestion analysis revealed one common mutation (Asn291Ser) all these cases. This was talso present 215 controls, albeit at lower frequency than FCH (10/215 = 4.6% vs. 20/169 11.8%; p < 0.02). Analysis lipid, lipoprotein apolipoprotein levels demonstrated an association between presence this Asn291Ser decreased HDL-cholesterol (0.94 +/- 0.31 1.12 0.26 mmol/l; 0.04) our controls. carrying showed (0.75 0.16 0.95 0.36 0.05) increased triglyceride (5.96 4.12 3.48 1.78 0.005) compared non-carriers. The high low phenotype carriers most obvious when BMI exceeded 27 kg/m2. Our study that is associated with abnormalities, indicating defective LPL least factors contributing FCH-phenotype.