title: A polymorphism in the human apolipoprotein AI promoter region: a study in hypertriglyceridaemic patients.
abstract: We examined the impact of a G-->A mutation at position -75 of the apolipoprotein AI gene promoter in subjects with hypertriglyceridaemia from two racial groups, Caucasians (n = 52) and Japanese (n = 19) compared to their controls (n = 56 and n = 21 respectively). The mutation was genotyped by the polymerase chain reaction and subsequent digestion using HpaII, and BstNI. We found no significant differences in allele frequency in either control-control or case-control comparisons in European and Japanese populations. Linkage disequilibrium was observed between the mutation and the common alleles of two restriction fragment length polymorphisms, MspI and SstI located in the APOA1 and APOC3 genes, respectively, in the Japanese population. On the basis of these results, the G-75-->A mutation is unlikely to be aetiological in predisposing to hypertriglyceridaemia.
authors.affiliation: Department of Human Metabolism and Genetics, St. Bartholomew's Hospital, London, UK.
authors.forename: E W
authors.initials: EW
authors.lastname: Needham
authors.forename: R K
authors.initials: RK
authors.lastname: Mattu
authors.forename: A
authors.initials: A
authors.lastname: Rees
authors.forename: J
authors.initials: J
authors.lastname: Stocks
authors.forename: D J
authors.initials: DJ
authors.lastname: Galton
mesh_terms: D000483:Alleles; D016632:Apolipoprotein A-I / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015228:Hypertriglyceridemia / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011401:Promoter Regions, Genetic; D044465:White People / Q000235:genetics
chemical_list: D016632:Apolipoprotein A-I; D017931:DNA Primers