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Clinical Chemistry 35: 256-259, 1989;
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Clinical Chemistry, Vol 35, 256-259, Copyright © 1989 by American Association for Clinical Chemistry

Strong association of a single nucleotide substitution in the 3'- untranslated region of the apolipoprotein-CIII gene with common hypertriglyceridemia in Arabs

S Tas
Department of Pathology, Kuwait University Faculty of Medicine, Safat.

A potential genetic marker for hypertriglyceridemia and coronary disease, an apolipoprotein-CIII gene allele displaying a single nucleotide substitution, was found in 71% of Arabs with primary hypertriglyceridemia. Over 96% of the unrelated adults possessing this allele showed hypertriglyceridemia. The same allele was found rarely among normotriglyceridemic subjects. In further support of involvement in hypertriglyceridemia, this allele was co-inherited with increased serum triglycerides in a three-generation family. Moreover, a gene dosage effect was also found. A mechanism of action for the allele is suggested by the findings that the subjects possessing the allele show markedly increased very-low-density lipoproteins, decreased high- density lipoproteins, and borderline chylomicronemia demonstrable by lipoprotein electrophoresis. Electrophoresis of the selectively amplified-restricted apolipoprotein-CIII DNA on agarose gel provides a rapid diagnostic test that allows identification of the subjects with this allele in less than a day.


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