DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias.

作者: S Rabkin , J Frohlich , M R Hayden , J Hewitt , C Clark

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摘要: We have studied the frequency of DNA polymorphisms in and around apolipoprotein A-1 (Apo-A1) CIII (Apo-CIII) gene loci 53 persons Caucasian descent with genetic hyperlipidemias. Three restriction-fragment-length (RFLPs) previously been located 5' 3' to Apo-A1 Apo-CIII were detected after digestion XmnI, PstI, SstI, respectively, hybridization a 2.2-kb fragment gene. These RFLPs are linkage equilibrium. The rare variant sites for XmnI (X2) SstI (S2) more frequent familial combined hyperlipidemia (FCH) than controls other When considered as haplotype, this difference was significant (P less .03). findings study suggest that reported association between S2 hypertriglyceridemia may be accounted for, part, by inclusion numerous patients FCH. Our data provide further evidence these within Apo-A1/Apo-CIII genes do not participate unmasking clinical expression dysbetalipoproteinemia.

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