These results suggest that the V279F mutation of plasma PAF-AH may be a genetic risk factor for atherosclerotic diseases.
Most instances are due to a Ioss of function mutation (Val279Phe, exon 9, position 994; G'T) in the plasma PAF-AH gene (7).
We examined the distribution of the V279F mutation of plasma PAF-AH in 142 control subjects and 164 patients, which is not a large sample.
The genotype and allele frequencies of Val279Phe mutation in the PAF-AH gene Patients (n = 115) PAF genotypes GG, n (%) 112 (97.
All study participants underwent carotid Doppler ultrasonography and laboratory testing, including lipid traits, PAF-AH activity, and DNA isolation.
The hypercholesterolemic patients divided in the two IMT groups had the same percentages of risk factors, which would provide better evidence on the role of PAF-AH gene polymorphisms and activity on the assessment of carotid atherosclerosis.
PAF-AH activity was measured by a spectrophotometric assay, with detection at 405 nm (Auto PAF-AH-AZ-01; kindly provided by R & D Division, Nesco Company, Azwel Inc.
PAF-AH genotypes were determined by PCR amplification and restriction analysis.