title: The Bcl I polymorphism of the human uncoupling protein (ucp) gene is due to a point mutation in the 5'-flanking region.
abstract: The polymorphic Bcl I site in the human ucp gene associated to percentage fat gain over time in the Québec Family Study cohort (Oppert et al. Int J Obesity 1994; 18: 526-531) has been positioned to the 5'-flanking region. This polymorphism results from a unique A/G mutation. Oligonucleotides used to amplify the polymorphic region, and allowing future studies of any cohort of patients, are described.
authors.affiliation: Centre de Recherche sur l'Endocrinologie Moléculaire et le Développement, Centre National de la Recherche Scientifique, Meudon, France.
authors.forename: A M
authors.initials: AM
authors.lastname: Cassard-Doulcier
authors.forename: F
authors.initials: F
authors.lastname: Bouillaud
authors.forename: M
authors.initials: M
authors.lastname: Chagnon
authors.forename: C
authors.initials: C
authors.lastname: Gelly
authors.forename: F T
authors.initials: FT
authors.lastname: Dionne
authors.forename: J M
authors.initials: JM
authors.lastname: Oppert
authors.forename: C
authors.initials: C
authors.lastname: Bouchard
authors.forename: Y
authors.initials: Y
authors.lastname: Chagnon
authors.forename: D
authors.initials: D
authors.lastname: Ricquier
mesh_terms: D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D004247:DNA / Q000737:chemistry*; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism*; D006801:Humans; D007473:Ion Channels; D008565:Membrane Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins; D008969:Molecular Sequence Data; D009765:Obesity / Q000235:genetics; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D000071256:Uncoupling Protein 1
chemical_list: D002352:Carrier Proteins; D007473:Ion Channels; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D000071256:Uncoupling Protein 1; D004247:DNA; C041666:endodeoxyribonuclease BclI; D015252:Deoxyribonucleases, Type II Site-Specific