Apo AI/CIII genomic polymorphisms predictive of atherosclerosis
AssigneeBiotechnology Research Partners, Ltd.
InventorPhilippe M. Frossard
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AssigneeBiotechnology Research Partners, Ltd.
InventorPhilippe M. Frossard
Estimating the term…
The invention offers an early detection method for atherosclerosis using genetic analysis to detect a polymorphisms shown to be correlated with this disease which are proximal to the apolipoprotein AI (apoAI) and aplipoprotein CIII (apoCIII) gene complex. All individuals with a 300 bp deletion 4 kb upstream of the apoAI gene are destined to experience severe atherosclerotic symptomologies. Individuals with a polymorphism 5.4 kb 5' of the apoAI gene or a PvuII polymorphism in the first intron of the apoCIII gene also seem to be at greater risk. A haplotype with MspI and XmnI/7.2 polymorphisms in this general region seem to be protected. Additional polymorphic sites in the DNA sequence associated with the apoAI/CIII gene complex provide a means for genetically fingerprinting individuals, and for identifying persons at risk with respect to disorders relating to lipid metabolism and transport.
A method for predicting the development of atherosclerosis in an individual human subject, which method comprises detecting the presence or absence of the "XmnI/8.2" polymorphism, which is a deletion of a 300 bp segment of DNA at 4 kb 5' of the apoAI gene.
A method for predicting the development of atherosclerosis in an individual human, which method comprises detecting the presence or absence of the "ApaI" polymorphism which is 5.4 kb 5' of the apoAI gene.
A method for predicting the development of atherosclerosis in an individual human, which method comprises detecting the presence of absence of the "PvuII" polymorphism which is in the first intron of the apoCIII gene.
The method of claim 15 which comprises detecting the presence or absence of a 0.87 kb DNA fragment of human genome which has been digested with PvuII, said fragment hybridizing with apoCIII probe or a substantially equivalent probe.
A method for predicting decreased susceptibility to atherosclerosis in an individual human which method comprises detecting the presence or absence of the "XmnI/7.2" polymorphism which is 3.7 kb 5' of the apoAI gene and the "MspI" polymorphism which is in the third intron of the apoAI gene.
A method for ascertaining individual human subjects having a propensity for disorders relating to lipid transport and metabolism, which method comprises detecting the presence or absence of one or more polymorphisms selected from the group consisting of:
A method of genetically identifying an individual, which method comprises assessing the presence or absence of at least one polymorphism by
A method of genetically identifying an individual, which method comprises assessing the presence or absence of at least one polymorphism by
A method of genetically identifying an individual which method comprises assessing the presence or absence of at least one polymorphism by
A method of genetically identifying an individual, which method comprises detecting the presence or absence of one or more polymorphisms selected from the group consisting of:
A method to detect the SstI/BanII polymorphism in the 4th exon of the gene which comprises digesting the genome with BanII and detecting a 1.0 and 0.8 kb fragment using apoCIII probe or a substantial equivalent.
A reagent kit useful in ascertaining individual human subjects having a propensity for disorders related to lipid transport and metabolism, which kit includes at least one probe selected from the group consisting of apoAI probe, p5'AI probe, and apoCIII probe, or their substantial equivalents, and at least one restriction enzyme selected from the group consisting of ApaI, XmnI, HgiAI, MspI, BanII, PvuII, BglI, BstEII, RsaI, StuI, and TaqI.
Dependencies are inferred from the claim text.