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A POSTULATED PHYLOGENETIC TREE FOR THE HUMAN APOLIPOPROTEIN-B GENE - UNPREDICTED HAPLOTYPES ARE ASSOCIATED WITH ELEVATED APO-B LEVELS

DUNNING, AM; RENGES, HH; HAMSTEN, A; TALMUD, P; HUMPHRIES, S; (1993) A POSTULATED PHYLOGENETIC TREE FOR THE HUMAN APOLIPOPROTEIN-B GENE - UNPREDICTED HAPLOTYPES ARE ASSOCIATED WITH ELEVATED APO-B LEVELS. BIOCHIM BIOPHYS ACTA , 1165 (3) 271 - 278.

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Abstract

Using published data on seven polymorphic sites in the human apolipoprotein B (apo B) gene, it is possible to postulate a model phylogenetic tree for this gene, covering the time since the divergence of human beings from other primates. This simple model assumes no obligatory recombination events or multiple occurrences of the same mutation. This model was tested in two samples of Swedish individuals consisting of 143 young, myocardial infarction patients and 90 healthy, age-matched, control individuals. All the haplotypes postulated in the simple model were observed unequivocally. However, in addition, three unpredicted haplotypes were unambiguously observed and a further nine, much rarer haplotypes were deduced to occur in these samples. The frequencies of the haplotypes postulated in the model do not differ between the patient and control samples, however most of the unpredicted haplotypes occur more frequently in the patient group than in the controls. Two of these unpredicted haplotypes, defined by the combination of the Antigen group (a) epitope and the presence of the XbaI cutting site, were associated with raised serum apo B levels in the control group and significantly elevated levels in the patient group. We propose that these observations explain in part the consistent association reported between the XbaI polymorphic site in the apo B gene and levels of plasma lipids.

Type:Article
Title:A POSTULATED PHYLOGENETIC TREE FOR THE HUMAN APOLIPOPROTEIN-B GENE - UNPREDICTED HAPLOTYPES ARE ASSOCIATED WITH ELEVATED APO-B LEVELS
Keywords:XBAI RFLP, ANTIGEN GROUP POLYMORPHISM, HAPLOTYPE, LOW-DENSITY LIPOPROTEIN, INSERTION DELETION POLYMORPHISM, LOW-DENSITY-LIPOPROTEIN, CORONARY HEART-DISEASE, YOUNG MALE SURVIVORS, MYOCARDIAL-INFARCTION, SERUM-CHOLESTEROL, RESTRICTION SITE, AG EPITOPES, LOCUS, DNA
UCL classification:UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science

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