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Title: Molecular genetics of apolipoprotein AI in relation to hyperlipidaemia
Author: Kessling, Anna Maria
Awarding Body: University of London
Current Institution: Imperial College London
Date of Award: 1986
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Genomic recombinant phage containing the apolipoprotein (apo) AI gene region were identified, subcloned and mapped. They were used to extend the map of the apo AI gene region, and as radioactive probes in hybridisation experiments with restriction enzyme-digested human DNA. The probes were used to search for restriction fragment length polymorphisms (RFLPs) of this gene region. Using a subcloned genomic fragment, containing the entire apo AI gene sequence, as hybridisation probe, a novel RFLP was identified using the restriction enzyme, Pstl. Genotypes and complete haplotypes were studied in normal and hyperlipidaemic individuals using this polymorphism, and RFLPs detected using the restriction enzymes SstI and Xmnl. A significant excess of the rare allele of the SstI RFLP was found in individuals with type V hyperlipidaemia. The rare allele of the Xmnl RFLP was found in significant excess in patients with hyperlipidaemia types lib, III and V, with a trend to increasing frequency of this allele with increasing levels of triglyceride in normo- and hyperlipidaemic individuals. The study was extended to a group of clinically well individuals from Norway, who had been selected for a twin study.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available